Category Archives: Symptoms

Autism Awareness Month

Autism spectrum disorders (ASDs) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges.

ASDs are “spectrum disorders” which means ASDs affect each person in different ways, and can range from very mild to severe. People with ASDs share some similar symptoms, such as problems with social interaction. But there are differences in when the symptoms start, how severe they are, and the exact nature of the symptoms.


Types of ASDs
There are three different types of ASDs:

  • Autistic Disorder (also called “classic” autism)
    This is what most people think of when hearing the word “autism.” People with autistic disorder usually have significant language delays, social and communication challenges, and unusual behaviors and interests. Many people with autistic disorder also have intellectual disability.
  • Asperger Syndrome
    People with Asperger syndrome usually have some milder symptoms of autistic disorder. They might have social challenges and unusual behaviors and interests. However, they typically do not have problems with language or intellectual disability.
  • Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS; also called “atypical autism”)
    People who meet some of the criteria for autistic disorder or Asperger syndrome, but not all, may be diagnosed with PDD-NOS. People with PDD-NOS usually have fewer and milder symptoms than those with autistic disorder. The symptoms might cause only social and communication challenges.


Signs and Symptoms
ASDs begin before the age of 3 and last throughout a person’s life, although symptoms may improve over time. Some children with an ASD show hints of future problems within the first few months of life. In others, symptoms might not show up until 24 months or later. Some children with an ASD seem to develop normally until around 18 to 24 months of age and then they stop gaining new skills, or they lose the skills they once had.

A person with an ASD might:

  • Not respond to their name by 12 months
  • Not point at objects to show interest (point at an airplane flying over) by 14 months
  • Not play “pretend” games (pretend to “feed” a doll) by 18 months
  • Avoid eye contact and want to be alone
  • Have trouble understanding other people’s feelings or talking about their own feelings
  • Have delayed speech and language skills
  • Repeat words or phrases over and over (echolalia)
  • Give unrelated answers to questions
  • Get upset by minor changes
  • Have obsessive interests
  • Flap their hands, rock their body, or spin in circles
  • Have unusual reactions to the way things sound, smell, taste, look, or feel


Diagnosis
Diagnosing ASDs can be difficult since there is no medical test, like a blood test, to diagnose the disorders. Doctors look at the child’s behavior and development to make a diagnosis.

ASDs can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable. However, many children do not receive a final diagnosis until much older. This delay means that children with an ASD might not get the help they need.


Treatment
There is currently no cure for ASDs. However, research shows that early intervention treatment services can greatly improve a child’s development. Early intervention services help children from birth to 3 years old (36 months) learn important skills. Services can include therapy to help the child talk, walk, and interact with others. Therefore, it is important to talk to your child’s doctor as soon as possible if you think your child has an ASD or other developmental problem.

Even if your child has not been diagnosed with an ASD, he or she may be eligible for early intervention treatment services. The Individuals with Disabilities Education Act (IDEA) says that children under the age of 3 years (36 months) who are at risk of having developmental delays may be eligible for services. These services are provided through an early intervention system in your state. Through this system, you can ask for an evaluation.

In addition, treatment for particular symptoms, such as speech therapy for language delays, often does not need to wait for a formal ASD diagnosis.

Learn about types of treatments »


Causes and Risk Factors
We do not know all of the causes of ASDs. However, we have learned that there are likely many causes for multiple types of ASDs. There may be many different factors that make a child more likely to have an ASD, including environmental, biologic and genetic factors.

  • Most scientists agree that genes are one of the risk factors that can make a person more likely to develop an ASD.
  • Children who have a sibling or parent with an ASD are at a higher risk of also having an ASD.
  • ASDs tend to occur more often in people who have certain other medical conditions. About 10% of children with an ASD have an identifiable genetic disorder, such as Fragile X syndrome, tuberous sclerosis, Down syndrome and other chromosomal disorders.
  • Some harmful drugs taken during pregnancy have been linked with a higher risk of ASDs, for example, the prescription drugs thalidomide and valproic acid.
  • We know that the once common belief that poor parenting practices cause ASDs is not true.
  • There is some evidence that the critical period for developing ASDs occurs before birth. However, concerns about vaccines and infections have led researchers to consider risk factors before and after birth.

ASDs are an urgent public health concern. Just like the many families affected in some way by ASDs, CDC wants to find out what causes the disorder. Understanding the risk factors that make a person more likely to develop an ASD will help us learn more about the causes. We are currently working on one of the largest U.S. studies to date, called Study to Explore Early Development (SEED). SEED is looking at many possible risk factors for ASDs, including genetic, environmental, pregnancy, and behavioral factors.


Who is Affected
ASDs occur in all racial, ethnic, and socioeconomic groups, but are almost five times more common among boys than among girls. CDC estimates that about 1 in 88 children has been identified with an autism spectrum disorder (ASD).

More people than ever before are being diagnosed with an ASD. It is unclear exactly how much of this increase is due to a broader definition of ASDs and better efforts in diagnosis. However, a true increase in the number of people with an ASD cannot be ruled out. We believe the increase in ASD diagnosis is likely due to a combination of these factors.

Within the past decade, CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network has been estimating the number of people with an ASD in the U.S. We have learned a lot about how many children in the U.S. have an ASD. It will be important to use the same methods to track how the number of people with an ASD is changing over time in order to learn more about the disorders.


If You’re Concerned
If you think your child might have an ASD or you think there could be a problem with the way your child plays, learns, speaks, or acts,contact your child’s doctor, and share your concerns.

If you or the doctor is still concerned, ask the doctor for a referral to a specialist who can do a more in-depth evaluation of your child. Specialists who can do a more in-depth evaluation and make a diagnosis include:

  • Developmental Pediatricians (doctors who have special training in child development and children with special needs)
  • Child Neurologists (doctors who work on the brain, spine, and nerves)
  • Child Psychologists or Psychiatrists (doctors who know about the human mind)

At the same time, call your state’s public early childhood system to request a free evaluation to find out if your child qualifies for intervention services. This is sometimes called a Child Find evaluation. You do not need to wait for a doctor’s referral or a medical diagnosis to make this call.

Where to call for a free evaluation from the state depends on your child’s age:

  • If your child is not yet 3 years old, contact your local early intervention system.You can find the right contact information for your state by calling the National Dissemination Center for Children with Disabilities (NICHCY) at 1-800-695-0285.Or visit the NICHCY website. Once you find your state on this webpage, look for the heading “Programs for Infants and Toddlers with Disabilities: Ages Birth through 3″.
  • If your child is 3 years old or older, contact your local public school system.Even if your child is not yet old enough for kindergarten or enrolled in a public school, call your local elementary school or board of education and ask to speak with someone who can help you have your child evaluated.If you’re not sure who to contact, call the National Dissemination Center for Children with Disabilities at 1.800.695.0285 or visit the NICHCY website. Once you find your state on this webpage, look for the heading “Programs for Children with Disabilities: Ages 3 through 5″.

Research shows that early intervention services can greatly improve a child’s development. In order to make sure your child reaches his or her full potential, it is very important to get help for an ASD as soon as possible.

January Is Glaucoma Awareness Month

Glaucoma is a very misunderstood disease. Often, people don’t realize the severity or who is affected.

Key Facts About Glaucoma

  • Glaucoma is a leading cause of blindness
    Glaucoma can cause blindness if it is left untreated. And unfortunately approximately 10% of people with glaucoma who receive proper treatment still experience loss of vision.
  • There is no cure (yet) for glaucoma
    Glaucoma is not curable, and vision lost cannot be regained. With medication and/or surgery, it is possible to halt further loss of vision. Since open-angle glaucoma is a chronic condition, it must be monitored for life. Diagnosis is the first step to preserving your vision.
  • Everyone is at risk for glaucoma
    Everyone is at risk for glaucoma from babies to senior citizens. Older people are at a higher risk for glaucoma but babies can be born with glaucoma (approximately 1 out of every 10,000 babies born in the United States). Young adults can get glaucoma, too. African Americans in particular are susceptible at a younger age.
  • There may be no symptoms to warn you
    With open-angle glaucoma, the most common form, there are virtually no symptoms. Usually, no pain is associated with increased eye pressure. Vision loss begins with peripheral or side vision. You may compensate for this unconsciously by turning your head to the side, and may not notice anything until significant vision is lost. The best way to protect your sight from glaucoma is to get tested. If you have glaucoma, treatment can begin immediately.

Some Statistics About Glaucoma

  • It is estimated that over 2.2 million Americans have glaucoma but only half of those know they have it.
  • In the U.S., more than 120,000 are blind from glaucoma, accounting for 9% to 12% of all cases of blindness.
  • Glaucoma is the second leading cause of blindness in the world, according to the World Health Organization.
  • After cataracts, glaucoma is the leading cause of blindness among African Americans.
  • Blindness from glaucoma is 6 to 8 times more common in African Americans than Caucasians.
  • African Americans are 15 times more likely to be visually impaired from glaucoma than Caucasians.
  • The most common form, open-angle glaucoma, accounts for 19% of all blindness among African Americans compared to 6% in Caucasians.
  • Other high-risk groups include: people over 60, family members of those already diagnosed, diabetics, and people who are severely nearsighted.
  • Estimates put the total number of suspected cases of glaucoma at over 60 million worldwide.

Lewy Body Dementia

What Is LBD?
LBD is not a rare disease. It affects an estimated 1.3 million individuals and their families in the United States. Because LBD symptoms can closely resemble other more commonly known diseases like Alzheimer’s and Parkinson’s, it is currently widely underdiagnosed. Many doctors or other medical professionals still are not familiar with LBD.LBD is an umbrella term for two related diagnoses. LBD refers to both Parkinson’s disease dementia and dementia with Lewy bodies. The earliest symptoms of these two diseases differ, but reflect the same underlying biological changes in the brain. Over time, people with both diagnoses will develop very similar cognitive, physical, sleep, and behavioral symptoms.While it may take more than a year or two for enough symptoms to develop for a doctor to diagnose LBD, it is critical to pursue a formal diagnosis. Early diagnosis allows for important early treatment that may extend quality of life and independence.LBD is a multisystem disease and typically requires a comprehensive treatment approach. This approach involves a team of physicians from different specialties who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms. Many people with LBD enjoy significant improvement of their symptoms with a comprehensive approach to treatment, and some can have remarkably little change from year to year.Some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Who was Lewy?
In the early 1900s, while researching Parkinson’s disease, the scientist Friederich H. Lewy discovered abnormal protein deposits that disrupt the brain’s normal functioning. These Lewy body proteins are found in an area of the brain stem where they deplete the neurotransmitter dopamine, causing Parkinsonian symptoms. In Lewy body dementia, these abnormal proteins are diffuse throughout other areas of the brain, including the cerebral cortex. The brain chemical acetylcholine is depleted, causing disruption of perception, thinking and behavior. Lewy body dementia exists either in pure form, or in conjunction with other brain changes, including those typically seen in Alzheimer’s disease and Parkinson’s disease.

Early and accurate diagnosis of LBD, while not always easy to do, is of critical importance for two reasons.

  • First, people with LBD may respond more favorably to certain dementia medications than people with Alzheimer’s, allowing for early treatment that may improve or extend the quality of life for both the person with LBD and their caregiver.
  • Secondly, many people with LBD respond more poorly to certain medications for behavior and movement than people with Alzheimer’s or Parkinson’s, sometimes with dangerous or permanent side effects.

By learning about common forms of dementia, you can help your physician most quickly identify what type of dementia has developed.

Common Forms of Dementia

Alzheimer’s disease symptoms include a progressive loss of recent memory; problems with language, calculation, abstract thinking, and judgment; depression or anxiety; personality and behavioral changes; and disorientation to time and place.

Lewy body dementia (LBD) is an umbrella term for a form of dementia that has three common presentations.

  • Some individuals will start out with a memory or cognitive disorder that may resemble Alzheimer’s disease, but over time two or more distinctive features become apparent leading to the diagnosis of ‘dementia with Lewy bodies’ (DLB). Symptoms that differentiate it from Alzheimer’s include unpredictable levels of cognitive ability, attention or alertness, changes in walking or movement, visual hallucinations, a sleep disorder called REM sleep behavior disorder, in which people physically act out their dreams, and severe sensitivity to medications for hallucinations. In some cases, the sleep disorder can precede the dementia and other symptoms of LBD by decades.
  • Others will start out with a movement disorder leading to the diagnosis of Parkinson’s disease and later develop dementia and other symptoms common in DLB.
  • Lastly, a small group will first present with neuropsychiatric symptoms, which can include hallucinations, behavioral problems, and difficulty with complex mental activities, leading to an initial diagnosis of DLB.

Regardless of the initial symptom, over time all three presentations of LBD will develop very similar cognitive, physical, sleep and behavioral features, all caused by the presence of Lewy bodies throughout the brain.

Vascular dementia is caused by a series of small strokes that deprive the brain of vital oxygen. Symptoms, such as disorientation in familiar locations; walking with rapid, shuffling steps; incontinence; laughing or crying inappropriately; difficulty following instructions; and problems handling money may appear suddenly and worsen with additional strokes. High blood pressure, cigarette smoking, and high cholesterol are some of the risk factors for stroke that may be controlled to prevent vascular dementia.

Frontotemporal dementia (FTD) includes several disorders with a variety of symptoms. The most common signs of FTD include changes in personality and behavior, such as inappropriate or compulsive behavior, euphoria, apathy, decline in personal hygiene, and a lack of awareness concerning these changes. Some forms of FTD involve language and speech symptoms or movement changes.

An experienced clinician within the medical community should perform a diagnostic evaluation. If one is not available, the neurology department of the nearest medical university should be able to recommend appropriate resources or may even provide an experienced diagnostic team skilled in Lewy body dementia.

A thorough dementia diagnostic evaluation includes physical and neurological examinations, patient and family interviews (including a detailed lifestyle and medical history), and neuro-psychological and mental status tests. The patient’s functional ability, attention, language, visuospatial skills, memory and executive functioning are assessed. In addition, brain imaging (CT or MRI scans), blood tests and other laboratory studies may be performed. The evaluation will provide a clinical diagnosis. Currently, a conclusive diagnosis of LBD can be obtained only from a postmortem autopsy for which arrangements should be made in advance. Some research studies may offer brain autopsies as part of their protocols. Participating in research studies is a good way to benefit others with Lewy body dementia.

Medications
Medications are one of the most controversial subjects in dealing with LBD. A medication that doesn’t work for one person may work for another person.

Prescribing should only be done by a physician who is thoroughly knowledgeable about LBD. With new medications and even ‘over-the-counter,’ the patient should be closely monitored. At the first sign of an adverse reaction, consult with the patient’s physician. Consider joining an online caregiver support group to see what others have observed with prescription and over-the-counter medicines.

Risk Factors
Advanced age is considered to be the greatest risk factor for Lewy body dementia, with onset typically, but not always, between the ages of 50 and 85. Some cases have been reported much earlier. It appears to affect slightly more men than women. Having a family member with Lewy body dementia may increase a person’s risk. Observational studies suggest that adopting a healthy lifestyle (exercise, mental stimulation, nutrition) might delay age-associated dementias.

Clinical Trials
The recruitment of LBD patients for participation in clinical trials for studies on LBD, other dementias and Parkinsonian studies is now steadily increasing.

Prognosis and Stages
No cure or definitive treatment for Lewy body dementia has been discovered as yet. The disease has an average duration of 5 to 7 years. It is possible, though, for the time span to be anywhere from 2 to 20 years, depending on several factors, including the person’s overall health, age and severity of symptoms.

Defining the stages of disease progression for LBD is difficult. The symptoms, medicine management and duration of LBD vary greatly from person to person. To further complicate the stages assessment, LBD has a progressive but vacillating clinical course, and one of its defining symptoms is fluctuating levels of cognitive abilities, alertness and attention. Sudden decline is often caused by medications, infections or other compromises to the immune system and usually the person with LBD returns to their baseline upon resolution of the problem.  But for some individuals, it may also be due to the natural course of the disease.

Symptoms

Lewy body dementia symptoms and diagnostic criteria
Every person with LBD is different and will manifest different degrees of the following symptoms. Some will show no signs of certain features, especially in the early stages of the disease. Symptoms may fluctuate as often as moment-to-moment, hour-to-hour or day-to-day. NOTE: Some patients meet the criteria for LBD yet score in the normal range of some cognitive assessment tools. The Mini-Mental State Examination (MMSE), for example, cannot be relied upon to distinguish LBD from other common syndromes.

LBD is a an umbrella term for two related clinical diagnoses, dementia with Lewy bodies and Parkinson’s disease dementia.

The latest clinical diagnostic criteria for dementia with Lewy bodies (DLB) categorizes symptoms into three types, listed below.  A diagnosis of Parkinsons’ disease dementia (PDD) requires a well established diagnosis of Parkinson’s disease that later progresses into dementia, along with very similar features to DLB.  A rather arbirary time cutoff was established to differentiate between DLB and PDD.  People whose dementia occurs before or within 1 year of Parkinson’s symptoms are diagnosed with DLB.  People who have an existing diagnosis of Parkinson’s for more than a year and later develop dementia are diagnosed with PDD.

Central feature

  • Progressive dementia – deficits in attention and executive function are typical. Prominent memory impairment may not be evident in the early stages.

Core features

  • Fluctuating cognition with pronounced variations in attention and alertness.
  • Recurrent complex visual hallucinations, typically well formed and detailed.
  • Spontaneous features of parkinsonism.

Suggestive features

  • REM sleep behavior disorder (RBD), which can appear years before the onset of dementia and parkinsonism.
  • Severe sensitivity to neuroleptics occurs in up to 50% of LBD patients who take them.
  • Low dopamine transporter uptake in the brain’s basal ganglia as seen on SPECT and PET imaging scans. (These scans are not yet available outside of research settings.)

Supportive features

  • Repeated falls and syncope (fainting).
  • Transient, unexplained loss of consciousness.
  • Autonomic dysfunction.
  • Hallucinations of other senses, like touch or hearing.
  • Visuospatial abnormalities.
  • Other psychiatric disturbances.

A clinical diagnosis of LBD can be probable or possible based on different symptom combinations.

A probable LBD diagnosis requires either:

  • Dementia plus two or more core features, or
  • Dementia plus one core feature and one or more suggestive features.

A possible LBD diagnosis requires:

  • Dementia plus one core feature, or
  • Dementia plus one or more suggestive features.

Symptoms Explained
In this section we’ll discuss each of the symptoms, starting with the key word: dementia. Dementia is a process whereby the person becomes progressively confused. The earliest signs are usually memory problems, changes in their way of speaking, such as forgetting words, and personality problems. Cognitive symptoms of dementia include poor problem solving, difficulty with learning new skills and impaired decision making.

Other causes of dementia should be ruled out first, such as alcoholism, overuse of medication, thyroid or metabolic problems. Strokes can also cause dementia. If these reasons are ruled out then the person is said to have a degenerative dementia. Lewy Body Dementia is second only to Alzheimer’s disease as the most common form of dementia.

Fluctuations in cognition will be noticeable to those who are close to the person with LBD, such as their partner. At times the person will be alert and then suddenly have acute episodes of confusion. These may last hours or days. Because of these fluctuations, it is not uncommon for it to be thought that the person is “faking”. This fluctuation is not related to the well-known “sundowning” of Alzheimer’s. In other words, there is no specific time of day when confusion can be seen to occur.

Hallucinations are usually, but not always, visual and often are more pronounced when the person is most confused. They are not necessarily frightening to the person. Other modalities of hallucinations include sound, taste, smell, and touch.

Parkinsonism or Parkinson’s Disease symptoms, take the form of changes in gait; the person may shuffle or walk stiffly. There may also be frequent falls. Body stiffness in the arms or legs, or tremors may also occur. Parkinson’s mask (blank stare, emotionless look on face), stooped posture, drooling and runny nose may be present.

REM Sleep Behavior Disorder (RBD) is often noted in persons with Lewy Body Dementia. During periods of REM sleep, the person will move, gesture and/or speak. There may be more pronounced confusion between the dream and waking reality when the person awakens. RBD may actually be the earliest symptom of LBD in some patients, and is now considered a significant risk factor for developing LBD. (One recent study found that nearly two-thirds of patients diagnosed with RBD developed degenerative brain diseases, including Lewy body dementia, Parkinson’s disease, and multiple system atrophy, after an average of 11 years of receiving an RBD diagnosis. All three diseases are called synucleinopathies, due to the presence of a mis-folded protein in the brain called alpha-synuclein.)

Sensitivity to neuroleptic (anti-psychotic) drugs is another significant symptom that may occur. These medications can worsen the Parkinsonism and/or decrease the cognition and/or increase the hallucinations. Neuroleptic Malignancy Syndrome, a life-threatening illness, has been reported in persons with Lewy Body Dementia. For this reason, it is very important that the proper diagnosis is made and that healthcare providers are educated about the disease.

Other Symptoms
Visuospatial difficulties, including depth perception, object orientation, directional sense and illusions may occur.

Autonomic dysfunction, including blood pressure fluctuations (e.g. postural/orthostatic hypotension) heart rate variability (HRV), sexual disturbances/impotence, constipation, urinary problems, hyperhidrosis (excessive sweating), decreased sweating/heat intolerance, syncope (fainting), dry eyes/mouth, and difficulty swallowing which may lead to aspiration pneumonia.

Other psychiatric disturbances may include systematized delusions, aggression and depression. The onset of aggression in LBD may have a variety of causes, including infections (e.g., UTI), medications, misinterpretation of the environment or personal interactions, and the natural progression of the disease.

Treatment Options

LBD is a multi-system disease and typically requires a comprehensive treatment approach, meaning a team of physicians from different specialties, who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms.  It is important to remember that some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Cognitive Symptoms
Medications called cholinesterase inhibitors are considered the standard treatment for cognitive symptoms in LBD. These medications were developed to treat Alzheimer’s disease. However, some researchers believe that people with LBD may be even more responsive to these types of medications than those with Alzheimer’s.

Movement Symptoms
Movement symptoms may be treated with a Parkinson’s medication called levodopa, but if the symptoms are mild, it may be best to not treat them in order to avoid potential medication side-effects.

Visual Hallucinations
If hallucinations are disruptive or upsetting, your physician may recommend a cautious trial of a newer antipsychotic medication. (Please see WARNING below.)  Of note, the dementia medications called cholinesterase inhibitors have also been shown to be effective in treating hallucinations and other psychiatric symptoms of LBD.

REM Sleep Behavior Disorder (RBD)
RBD can be quite responsive to treatment, so your physician may recommend a medication like melatonin and/or clonazepam.

Neuroleptic Sensitivity
Severe sensitivity to neuroleptics is common in LBD. Neuroleptics, also known as antipsychotics, are medications used to treat hallucinations or other serious mental disorders. While traditional antipsychotic medications (e.g. haloperidol) are commonly prescribed for individuals with Alzheimer’s with disruptive behavior, these medications can affect the brain of an individual with LBD differently, sometimes causing severe side effects (see below). For this reason, traditional antipsychotic medications like haloperidol should be avoided. Some newer ‘atypical’ antipsychotic medications like risperidone may also be problematic for someone with LBD. Quetiapine is preferred by some LBD experts. If quetiapine is not tolerated or is not helpful, clozapine should be considered, but requires ongoing blood tests to assure a rare but serious blood condition does not develop. Hallucinations must be treated very conservatively, using the lowest doses possible under careful observation for side effects.

WARNING:
Up to 50% of patients with LBD who are treated with any antipsychotic medication may experience severe neuroleptic sensitivity, such as worsening cognition, heavy sedation, increased or possibly irreversible parkinsonism, or symptoms resembling neuroleptic malignant syndrome (NMS), which can be fatal. (NMS causes severe fever, muscle rigidity and breakdown that can lead to kidney failure.)

Medication Side Effects
Speak with your doctor about possible side effects. The following drugs may cause sedation, motor impairment or confusion:

  • Benzodiazepines, tranquilizers like diazepam and lorazepam
  • Anticholinergics (antispasmodics), such as oxybutynin and glycopyrrolate
  • Some surgical anesthetics
  • Older antidepressants
  • Certain over-the-counter medications, including diphenhydramine and dimenhydrinate.
  • Some medications, like anticholinergics, amantadine and dopamine agonists, which help relieve parkinsonian symptoms, might increase confusion, delusions or hallucinations.

NOTE: Be sure to meet with your anesthesiologist in advance of any surgery to discuss medication sensitivities and risks unique to LBD. People with LBD often respond to certain anesthetics and surgery with acute states of confusion or delirium and may have a sudden significant drop in functional abilities, which may or may not be permanent.

Possible alternatives to general anesthesia include a spinal or regional block. These methods are less likely to result in postoperative confusion. If you are told to stop taking all medications prior to surgery, consult with your doctor to develop a plan for careful withdrawal.

Non-Medical Treatments

Physical therapy options include cardiovascular, strengthening, and flexibility exercises, as well as gait training. Physicians may also recommend general physical fitness programs such as aerobic, strengthening, or water exercise.

Speech therapy may be helpful for low voice volume and poor enunciation. Speech therapy may also improve muscular strength and swallowing difficulties.

Occupational therapy may help maintain skills and promote function and independence. In addition to these forms of therapy and treatment, music and aroma therapy can also reduce anxiety and improve mood.

Individual and family psychotherapy can be useful for learning strategies to manage emotional and behavioral symptoms and to help make plans that address individual and family concerns about the future.

Support groups may be helpful for caregivers and persons with LBD to identify practical solutions to day-to-day frustrations, and to obtain emotional support from others.

End-of-Life
Planning for the end of life can be a valuable activity for any family. The links below offer general guidance and some specific suggestions for families who face the burden of a disease such as Lewy body dementia.

Advanced Directives – a Caring Connections site with state-specific advanced directives

Caring Connections – home page of consumer Web site about hospice and palliative care managed by the National Hospice and Palliative Care Organization

Palliative Doctors – a Web site for consumers managed by the American Academy of Hospice and Palliative Care about palliative care

Accessible Vehicles And Adaptive Mobility Equipment Q&A

Rear entry vs. side entry. Buying online. Buying used. What do you need to know to get maximum benefit for minimum expense?

Good information is the key to saving money and getting the most value for the dollar when making a big-ticket purchase like a wheelchair-accessible vehicle.

With that in mind, Seek out and find experts who truly care for answers to some common questions about adaptive mobility equipment.

Q: Can I just go to a car dealer down the street or do I need a certified mobility dealer?

A: Certified mobility dealers help consumers buy the right vehicle and adaptive mobility equipment to meet their mobility needs now and in the future. Future planning is especially important for people with muscle diseases that get progressively worse over time.

“There are so many different products out there, and technology has improved so much. We just want to help people make the right decision,” says Jim Sanders, president of Automotive Innovations based in Bridgewater, MA for over 25 years.

“Many times, consumers will go to a car dealer and buy [a vehicle] that can’t be modified or one that doesn’t fit their needs. And once you buy a vehicle, normally it’s very difficult to return it.”

The National Mobility Equipment Dealers Association (NMEDA), a nonprofit organization that provides consumer guidance and ensures quality and professionalism in the manufacturing and installation of mobility equipment. Members include mobility equipment dealers, manufacturers, driver rehabilitation specialists and other professionals.

NMEDA member-dealers must follow the safety standards established by the National Highway Traffic Safety Administration (NHTSA), in addition to NMEDA’s own stringent guidelines.

Some dealers choose to enroll in NMEDA’s Quality Assurance Program (QAP), which requires them to adhere to national motor vehicle safety standards, and use proven quality control practices to yield the highest level of performance and safety. Automotive Innovations was the First Mobility Dealer in Massachusetts to enroll and exceed the safety standards.

“The QAP dealer is audited by an outside engineering firm to verify that technicians have been trained, make sure the dealer has insurance and make sure the facility is ADA-compliant,”

So it means the QAP dealer is going above and beyond.”

Other reasons to seek out a certified mobility equipment dealer include:

They provide a link to qualified service and repair, that it’s crucial to have done on a adapted vehicle serviced.

Some manufacturers of adapted vehicles sell directly to consumers, cutting costs by cutting out the middle man, says Jim Sanders, of VMi New England, based in Bridgewater, MA.

But expert assessment and “try before you buy” remain essentials for prospective buyers, with or without a dealer in the middle.

For example, We, a NMEDA QAP-certified member, send representatives to customers’ homes for assessment and test drives before they buy, and also offer unmatched service/maintenance to just about any modified vehicle including Rollx vans.

Q: Can I get a better price if I buy online rather than from a dealer?

A: As with any online shopping, the warning “buyer beware” rings true. Buying online without trying out different vehicles with different conversions can be a costly mistake. Furthermore there are many grey market converted vans being offered as quality conversions.

Online, clients are mostly shopping blind. Typically they have no idea how the vehicle they need will even work fro them, even if they have specific recommendations from a driver evaluator or occupational therapist.

“You definitely shouldn’t buy it online,” “There not trying to assess your needs by e-mail or over the phone. There just trying to sell you something.

Some online dealers even have a questionnaire on its Web site to try and give you the idea your getting what you need. But, it will never replace being able to go to a local mobility dealership and try the vans out first hand.

A mobility vehicle is probably the second-largest purchase after a house. You should see it, try it out, and make sure it’s something that will work for you. It’s horrible when people get something that they’re disappointed in.

Every vehicle is a little bit different — such as in the dimensions, electrical and fuel systems, or suspension modifications. “If you go online and buy [based] on price, you’re not really looking at the total package.”

While buying online maybe able to save money up front, it wont over the long term.

In addition to consumers missing out on the important local service contact that a mobility equipment dealer provides, these online deals or grey market vans are worth much less when it comes time to trade it in.

Where do you want to sit? If you plan to drive from your wheelchair, then a side-entry conversion is what you’ll need, unless you can transfer to the driver’s seat (rear entry). With a rear-entry conversion, the wheelchair user typically is positioned in the back or between two mid-row captain’s seats, while a side entry offers a wheelchair user multiple seating options in the driver, front passenger and middle sections.

Q: What are some common mistakes people make when buying a modified vehicle?

A: Manufacturers and mobility dealers agree that one of the most common — and costly — mistakes is buying the vehicle first and then shopping for the conversion or adaptive mobility equipment. Not all vehicles can be converted.

For example, If you purchase a minivan from a traditional car dealership you can hit a roadblock if it doesn’t meet specific requirements to have the floor lowered for a rear- or side-entry conversion.

Q: What are some good questions to ask a dealer or manufacturer?

A: Although buying a modified vehicle can be “a daunting experience,” says VMI’s Monique McGivney, it also can be “exciting and fun when you walk in armed with good questions and information.”

Prior to getting an assessment from a mobility dealer, evaluate your needs and try answering the following questions:

  • What vehicle will fit in my garage?
  • What kind of parking issues will I encounter where I live?
  • What is the size and weight of my wheelchair?
  • What is my seated height in the wheelchair?
  • How many people will ride in the vehicle?
  • In what part of the vehicle do I want to sit?
  • Will I be able to drive with hand controls?
  • Do I want a full-size van, minivan or alternative vehicle?
  • Do I want manual or power equipment?
  • Will an in-floor ramp or fold-out ramp meet my needs?
  • What is my budget, and do I have access to supplemental funding?

The first question mobility dealers usually ask a client is: “What is your seated height in the wheelchair?” From there, the dealer can advise whether a full-size or minivan is appropriate, and what kind of conversion is needed.

Be sure to ask the dealer about the warranty and how the vehicle can be serviced.

Q: Which is better: rear entry or side entry?

A: The most important difference between a rear- and side-entry conversion is that with a rear entry, wheelchair users can’t drive from their wheelchairs nor can they ride in the front passenger seat. From there, the choice comes down to personal preference and budget.

In recent years, because of quality, convenience and cost, there’s been a shift toward side entry vehicles. Rear entry is more of a frugal modification, involves a less of conversion process and is typically a little less expensive than a side-entry conversion.

Many people prefer side entry with a in-floor conversion for many safety reasons additionally because they can park almost anywhere and not worry deploying the ramp out into traffic. Also, side entry allows the consumer to ride in the passengers front position along with maintain the rear seats in a minivan because the conversion doesn’t affect that area.

Rear entry is harder to get out of compared to a side-entry.

Anyway you look at it side-entry vehicles are more versatile. For example, side entry allows someone with a progressively worsening condition to use the vehicle for a longer period of time. A wheelchair user can start out driving from his or her chair, and then move to several other positions in the vehicle when no longer able to drive.

Side-entry conversions typically are a little more expensive than rear-entry because they’re more intrusive and labor intensive. For example, with a minivan, the entire floor and frame must be removed and replaced with a lowered floor and new frame.

Q: What’s the difference between a fold-out ramp and in-floor ramp?

A: This decision comes down to safety, aesthetics, convenience and cost.

A fold-out ramp folds up into the vehicle, takes up valuable space in the passengers front area and must be deployed whenever the door is opened.

The in-floor ramp slides under the floor, so it safer for anyone seated in the passengers front position, mid-ship position, there’s no obstruction to the door, and other passengers can enter and exit without deploying the ramp. In-floor ramps only are currently only available for side-entry minivan conversions, and there is even a manual (unpowered) option.

In-floor ramps in addition to being safer will generally provide more room in the vehicle because there’s nothing blocking the doorway. The ramp is “out of sight, out of mind and may last longer because it doesn’t have to be deployed each time the side passenger door opens.

Fold-out ramps generally cost a little less than in-floor, and consumers can select from manual and power versions; a power fold-out ramp still costs less than an in-floor ramp.

If an in-floor ramp system breaks down or the vehicle loses power, VMI’s in-floor ramp systems have a backup system (sure-deploy) that bypasses the vehicle’s battery.

A lot of people just feel more secure knowing there isn’t a fold-out ramp next to them in the event of a accident.

Q: I use a wheelchair, but a van or minivan just isn’t “me.” Are they my only options?

A: You have some choices.

Lowered-floor conversions with fold-out ramps can be done on the Honda Element, Chrysler PT Cruiser and Toyota Scion. The conversions are small and don’t fit as many people.

Due to them being built on a much smaller scale, the ones we have seen have not been built with the same level of quality of mini van conversion. Parts availability and repairs have been a problem, some of the companies that converted them are out of business and or have no support for “something they used to build”

For those who prefer to keep their standard car rather than purchasing a modified vehicle — and who can make the transfer from a wheelchair to a car seat — the answer may be as simple as a set of hand controls or a left foot gas pedal

Turning seats can be used in a wide range of vehicles, from sedans to SUVs and pickup trucks. A way to transport the wheelchair (like a rear lift) also is needed.

The rate at which your disease symptoms are worsening is one thing to consider when looking at turning seats — is it likely you’ll be able to transfer and ride in a car seat for many more years? Also, be sure to check with a mobility dealer to determine if your vehicle can accommodate a turning seat and a wheelchair lift.

Q: Why are modified vehicles so darned expensive?

A: A vehicle conversion can cost consumers upwards of $27,000 — and that’s just the cost for the conversion, not the vehicle. The total package can run between $45,000 and $80,000 — or more.

Besides the cost of the components, the reason it’s so pricey is that basically there is a lot of work involved to build a quality vehicle.

Modified vehicles from certified manufacturers and dealers must meet NHTSA’s Federal Motor Vehicle Safety Standards (FMVSS). That means all modified vehicles must be properly crash tested. (To learn more, visit www.nhtsa.dot.gov.)

It’s quite a labor-intensive process because of the customization. When you make structural modifications to a vehicle, you have to go through all of the crash testing, and you have to show that the vehicle is compliant again, and those tests are very expensive.

Most of the time lowering the floor in a minivan requires replacing or moving the fuel tank. Once the conversion is finished, the vehicle still has to meet the original requirements for evaporative emissions, in addition to NHTSA requirements.

Q: How can I pay less?

A: Consumers have some options.

Many consumers cut costs by purchasing pre-owned vehicles with new conversions, typically saving around $10,000 to $12,000.

The previous van owner already has absorbed the depreciation hit on a new van, which essentially occurs right after you’ve driven off the dealer’s lot.

Buying used can be beneficial for first-time buyers who want to try out a vehicle for a few years before buying new.

But if you plan to buy used, do some research and make sure the vehicle is structurally sound including the conversion. Ask for a vehicle history (CARFAX) report, and get the vehicle inspected by a mobility dealer to ensure it’s in good shape and was well taken care of.

Q: How do people manage to pay for it?

A: Many consumers used home equity loans to purchase a vehicle and adaptive equipment. But with home values decreasing.

Many dealers and manufacturers work with lending institutions that offer extended-term financing, including 10-year loans, allowing consumers to make lower, more affordable monthly payments. The downside is that consumers are locked into the vehicle for 10 years, and end up paying more in interest.

If you finance for 10 years, and you’re not going to keep the vehicle for that amount of time, you’re going to lose money when you try to sell or trade it because you haven’t paid off much of the balance.

When you buy a new vehicle, many car manufacturers offer mobility reimbursement programs (up to $1,000) to help offset the cost for the purchase and installation of adaptive equipment.

Williams syndrome

Williams syndrome is a genetic condition that is present at birth and can affect anyone.  It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.

Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing.  Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

But there are major struggles as well.  Many babies have life-threatening cardiovascular problems.  Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding.  As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. And as adults, most people with WS need supportive housing to live to their fullest potential.  Many adults with WS contribute to their communities as volunteers or paid employees, for example working at senior homes and libraries or as store greeters or veterinary aides.

Just as important are opportunities for social interaction. As people with WS mature – beyond the structure of school and family activities – they often experience intense isolation which can lead to depression.  They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don’t process nuanced social cues and this makes it difficult to form lasting relationships.

Common features of Williams syndrome include:

  • Characteristic facial appearance
    Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent “starburst” or white lacy pattern on their iris. Facial features become more apparent with age.
  • Heart and blood vessel problems
    The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.
  • Hypercalcemia (elevated blood calcium levels)
    Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or “colic-like” symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.
  • Low birth-weight / slow weight gain
    Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as “failure to thrive”. Adult stature is slightly smaller than average.
  • Feeding problems
    Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.
  • Irritability (colic during infancy)
    Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.
  • Dental abnormalities
    Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.
  • Kidney abnormalities
    There is a slightly increased frequency of problems with kidney structure and/or function.
  • Hernias
    Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.
  • Hyperacusis (sensitive hearing)
    Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.
  • Musculoskeletal problems
    Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.
  • Overly friendly (excessively social) personality
    Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.
  • Developmental delay, learning disabilities and attention deficit disorder
    Most people with Williams syndrome mild to severe learning disabilities and cognitive challenges. Young children with Williams syndrome often experience developmental delays.  Milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which can improve as the children get older.

Older children and adults with Williams syndrome often demonstrate intellectual “strengths and weaknesses.” There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) show significant weakness.

Batten Disease

What is Batten Disease?
Batten disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCL).

Although Batten disease is usually regarded as the Juvenile form of NCL, it has now become the term to encompass all forms of NCL.

The forms of NCL are classified by age of onset and have the same basic cause, progression and outcome but are all genetically different, meaning each is the result of a different gene. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease/NCL become blind, bedridden and unable to communicate, and, presently, it is always fatal.

Batten disease is not contagious or, at this time, preventable.

The History of Neuronal Ceroid Lipofuscinosis
The first probable instances of this condition were reported in 1826 in a Norwegian medical journal by Dr. Christian Stengel, who described three affected siblings in a small mining community in Norway. Although no pathological studies were performed on these children, the clinical descriptions are so succinct that the diagnosis of the Spielmeyer-Sjogren (juvenile) type is fully justified. More fundamental observations were reported by F.E. Batten in 1903, and by Vogt in 1905, who performed extensive clinicopathological studies on several families. Retrospectively, these papers disclose that the authors grouped together different types of the disease.

Furthermore Batten, at least for some time, insisted that the condition he described was distinctly different from Tay-Sachs Disease, the prototype of a neuronal lysosomal disorder now identified as GM2-Gangliosidosis type A. Around the same time, Spielmeyer reported detailed studies on three siblings, suffering from the Spielmeyer-Sjogren (juvenile) type, which led him to the very firm statement that this malady is not related to Tay-Sachs Disease. Subsequently, however, the pathomorphological studies of Schaffer made these authors change their minds to the extent that they reclassified their respective observations as variants of Tay-Sachs Disease, which caused confusion for about 50 years.

In 1913-14, M. Bielschowsky delineated the Late Infantile form of NCL. However, all forms were still thought to belong in the group of “familial amaurotic idiocies,” of which Tay-Sachs was the prototype.

In 1931, the Swedish psychiatrist and geneticist, Torben Sjogren, presented 115 cases with extensive clinical and genetic documentation and came to the conclusion that the disease which we now call the Spielmeyer-Sjogren (juvenile) type is genetically separate from Tay-Sachs.

Departing from the careful pathomorphological observations of Spielmeyer, Hurst, Sjovall and Ericsson, Zeman and Alpert made a determined effort to document the previously suggested pigmentary nature of the neuronal deposits in certain types of storage disorders. Simultaneously, Terry, Korey and Svennerholm demonstrated a specific ultrastructure and biochemistry for Tay-Sachs Disease, and these developments led to the distinct identification, and separation, of the NCLs from Tay-Sachs Disease by Zeman and Donahue. At that time, it was proposed that the Late Infantile (Jansky-Bielschowsky), the Juvenile (Spielmeyer-Vogt), and the adult forms (Kufs) were quite different from Tay-Sachs Disease with respect to chemical pathology and ultrastructure, and also different from other forms of sphingolipidoses. Subsequently, it was shown by Santavuori and Haltia that an Infantile form of NCL exists, which Zeman and Dyken had included with the Jansky-Bielschowsky type.

What are the forms of NCL/Batten Disease?
There are four main types of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults. The symptoms are similar but the forms become apparent at different ages and progress at different rates.

  • Infantile NCL (Santavuori-Haltia disease) begins between about 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. Initial signs of this disorder include delayed psychomotor development with progressive deterioration, other motor disorders, or seizures. The Infantile form has the most rapid progression and children live into their mid-childhood years.
  • Late Infantile NCL (Jansky-Bielschowsky disease) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration. This form progresses rapidly and ends in death between ages 8 and 12.
  • Juvenile NCL (Batten disease) begins between the ages of 5 and 8. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.
  • Adult NCL (Kufs disease or Parry disease) generally begins before the age of 40, causes milder symptoms that progress slowly, and does not cause blindness. Although age of death is variable among affected individuals, this form does shorten life expectancy.

There are six additional diseases included in the Batten disease/NCL group:

  • Finnish Late Infantile – identified in Finland
  • Variant Late Infantile – identified in Costa Rica, South America, Portugal and other nations
  • Turkish Late Infantile – identified in Turkey
  • Northern Epilepsy/ERMP – Epilepsy with Mental Retardation – identified in Finland
  • Variant Juvenile – identified in Germany and USA
  • Congenital/CTSD – identified in Europe

A more precise chart of the forms of Batten disease is below:

Chart: Forms of Batten Disease
Form Initials  Gene  Age of Onset 
Infantile INCL CLN1 6 mos. — 2 yrs.
Late Infantile LINCL CLN2 2 — 4 yrs.
Juvenile JNCL CLN3 5 — 7 yrs.
Adult ANCL CLN4 25 — 40 yrs.
Finnish Late Infantile fLINCL CLN5 2 — 4 yrs.
Variant Late Infantile vLINCL CLN6 3 — 5 yrs.
Turkish Late Infantile tLINCL CLN7 2 — 4 yrs.
Northern Epilepsy EPMR CLN8 5 — 10 yrs.
Variant Juvenile vJNCL CLN9 5 — 7 yrs.
Congenital CTSD CLN10 Birth — 2 yrs.

How many people have these disorders?
Batten disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States, but no one really knows how many affected children there may be in North America or anywhere else in the world. The diseases have been identified worldwide. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective gene.

How are NCLs inherited?
Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry one defective gene, each of their children faces a one in four chance of developing NCL. At the same time, each child also faces a one in two chance of inheriting just one copy of the defective gene. Individuals who have only one defective gene are known as carriers, meaning they do not develop the disease, but they can pass the gene on to their own children.

Adult NCL may be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parry) disorder. In autosomal dominant inheritance, all people who inherit a single copy of the disease gene develop the disease. As a result, there are no unaffected carriers of the gene.

What causes these diseases?
Symptoms of Batten disease/NCLs are linked to a buildup of substances called lipopigments in the body’s tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for “lipid” or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope.

The lipopigments build up in cells of the brain and the eye, as well as in skin, muscle, and many other tissues. Inside the cells, these pigments form deposits with distinctive shapes that can be seen under an electron microscope. Some look like half-moons (or comas) and are called curvilinear bodies; others look like fingerprints and are called fingerprint inclusion bodies; and still others resemble gravel (or sand) and are called granual osmophilic deposits (GRODS).

Batten Disease - What causes these diseases?

These deposits are what doctors look for when they examine a skin sample to diagnose Batten disease. The diseases cause the death of neurons (specific cells found in the brain, retina and central nervous system). The reason for neuron death is still not known.

How are these disorders diagnosed?
Because vision loss is often an early sign, Batten disease/NCL may first be suspected during an eye exam. An eye doctor can detect a loss of cells within the eye that occurs in the three childhood forms of Batten disease/NCL. However, because such cell loss occurs in other eye diseases, the disorder cannot be diagnosed by this sign alone.

Often an eye specialist/ophthalmologist or other physician who suspects Batten disease/NCL may refer the child to a neurologist, a doctor who specializes in diseases of the brain and nervous system. In order to diagnose Batten disease/NCL, the neurologist needs the patient’s medical history and information from various laboratory tests. Below are pictures of the retina showing the telltale signs of Batten disease.

Batten Disease and Ophthalmology

Batten Disease-How are these disorders diagnosed?

In the Fundus (the interior surface of the eye), the pigmentary changes in the macula are initially slight, and so it is easy to miss them, especially when no pupil dilation is applied and the fundus is not examined carefully. Fluorescent angiography demonstrates the pigmentary changes more clearly (Prammer, et al., 1978- ); sometimes fluorescence can be observed, leaking out of the retinal vessels. The density of the fine particuled pigmentations is slight around the macula and increases towards the periphery (Gottinger, et al., 1971- ). Dyken (1976) also mentions peripheral depigmentation. The pigment epithelium frequently has a granular “pepper and salt” appearance (see Fig. 1); sometimes there is a characteristic “bull’s eye” maculopathy (see Fig. 2, Fig. 3). The papilla becomes paler and the retinal arterioles seem more obviously constricted and extended (Fig. 4, Fig. 5). The peripheral retina varies in appearance, from normal to showing pigment-epithelial (pigmented cell layer just outside the retina) abnormalities (Spalton, et al., 1980- ). Later, peripheral pigment is often seen in the form of bone corpuscular pigment (see Fig. 6). Cataracts develop later in the course of the disease.

Diagnostic tests used for Batten disease/NCLs include:
Skin or Tissue Sampling: The doctor examines a small piece of tissue under an electron microscope. The powerful magnification of the microscope helps the doctor spot typical NCL deposits. These deposits are found in many different tissues, including skin, muscle, conjunctiva, rectal and others. Blood can also be used. See inclusion body pictures above.

Electroencephalogram or EEG: An EEG uses special patches placed on the scalp to record electrical currents inside the brain. This helps doctors see telltale patterns in the brain’s electrical activity that suggest a patient has seizures.

Electrical Studies of the Eyes: These tests, which include visual-evoked responses (VER) and electro-retinagrams (ERG), can detect various eye problems common in childhood Batten disease/NCLs.

Brain Scans: Imaging can help doctors look for changes in the brain’s appearance. The most commonly used imaging technique is computed tomography (CT), which uses x-rays and a computer to create a sophisticated picture of the brain’s tissues and structures. A CT scan may reveal brain areas that are decaying in NCL patients. A second imaging technique that is increasingly common is magnetic resonance imaging, or MRI. MRI uses a combination of magnetic fields and radio waves, instead of radiation, to create a picture of the brain.

Enzyme Assay: A recent development in the diagnosis of Batten disease/NCL is the use of enzyme assays that look for specific missing lysosomal enzymes for Infantile and Late Infantile only. This is a quick and easy diagnostic test.

Genetic/DNA Testing: Each “form” of Batten disease is the result of a different gene. Genes for eight of the ten forms have been identified. Testing for these is available for diagnosis as well as carrier and prenatal status.

Is there any treatment?
As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease/NCL. However, seizures can be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy may help patients retain function as long as possible.

BDSRA helps scientists by fostering awareness, promoting more research, providing samples and information, and by funding research that is directed towards understanding all forms of Batten disease and development of therapies.

Support and encouragement can help children and families cope with the profound disability and losses caused by NCLs. The Batten Disease Support and Research Association enables affected children, adults and families to share common concerns and experiences.

Meanwhile, scientists pursue medical research that will someday yield an effective treatment.

Caregiver Support

Whether you are caring for the elderly or a loved one with a disAbility, most every caregiver should surround their life with resources and relief.

These resources will not only keep you feeling refreshed and renewed, but they’ll help you connect with others, who may have, or be currently experiencing similar lifestyles. In recognizing the different support options available, you’ll find yourself actively combating the chances of caregiver burnout and achieving the best quality care possible for your loved one.

Support is within reach. You just have to know where to look.

Caregiver Support Groups
You may be surprised to learn that a quick internet search can connect you with entire communities of caregivers. Sure, there are plenty of self-help articles and tips and tricks out there, but the value of an honest forum and communal support goes miles.

Find a caregiver forum in your state or region and consider the benefits of sounding off with other members. Bounce ideas and successes off of one another. Share your wisdom and experiences. Ask questions and seek answers.

Forums:

  • provide perspective
  • highlight industry products
  • connect like-minded individuals
  • create a canvas for ongoing conversation
  • offer new tips and tricks
  • and so much more

A forum is a great foundation to replenish your optimism and hope as a caregiver. You may even turn online connections into real life friendships and accountability. And what better way to grow as a caregiver than to do it in the company and strength of a community of caregivers?

Financial Aid
Many caregivers spend upwards of 20 hours per week giving care. It’s no wonder finances and employment opportunities can sometimes be difficult to balance. Don’t count yourself out, though.

Seek education on grants and financial aid. There are many benefits for caregivers such as mobility vehicle loans and income tax return incentives. A little homework can save you money in the long run. Getting ahead on your finances can provide tremendous relief.

Fitness
Explore activities you can experience with your loved one. From adaptive sports to a traditional walk around the block, exercise is a great way to proactively deal with stress and clear the mind.

To take it one step further, consider joining a league in your area. If you’ve become a member of an online forum, ask around about local gatherings and activities or take initiative to start one on your own. The positivity and energy can be contagious for all involved.

Family and Friends
Don’t go it alone. The strongest caregivers know when it’s time to ask for help.

It’s healthy to reach out to those you trust and your family and friends can be awesome support groups. Invite them to step up and come beside you as you provide care for your loved ones and don’t be afraid to walk them through a day in your life. The more they know about your situation and your needs the better they’ll be able to assist in the journey of you and your loved one.

Managing your own stress can make the ultimate difference in the life of the loved one you care for. In caring for you, you’re caring for them.

What is Trisomy 9

The name “Trisomy” means three (“tri”) copies of a chromosome (“somy”). Unlike most individuals, people that have any form of Trisomy are born with a whole or partial third copy of a chromosome, instead of the expected two. For example, a child that has a third copy of the number 21th chromosome, rather then just the pair, have a common disorder called Down’s Syndrome. When the 18th chromosome has been affected, then that better known as Edward’s Syndrome, and again the 13th is Patau’s Syndrome. Trisomy 9 refers to the number 9th chromosome being affected, though due to being so rare it has not yet been given another name.

Duplication resulting in Trisomy 9p

A duplication is an extra copy of a portion of a chromosome. In this case, the extra portion is from chromosome 9. This may also be referred to as a partial Trisomy 9 since what is extra is part of chromosome 9. The extra chromosome 9 material can be present in the middle of one of the arms of chromosome 9 or may be attached to the end of another whole copy of chromosome 9. Some individuals are diagnosed with Trisomy 9p which is where the chromosomes have duplicated the “p” arm, or Trisomy 9q where the “q” arm has been affected.

Mosaic Trisomy 9

The term “mosaic” means that there is a mixture of cell types among the analysed cells. An individual with mosaic Trisomy 9 has some cells with an extra copy of Chromosome 9. Others can also have Mosaic 9 which is where the same thing applies though only with the expected number of chromosomes (two copies of chromosome 9)

Translocation resulting in Trisomy 9p

 Translocations (t) are rearrangements of chromosome material that involve two or more chromosomes. Translocations arise when two chromosomes “break” and switch material. Often, when a translocation arises in a parent it is “balanced”. This means that there is no apparent loss or gain of chromosome material. All the chromosome material that should be there is usually present but is rearranged.

Emphysema Awareness

Chronic obstructive pulmonary disease (COPD) is one of the leading cause of death in the U.S. and affects more than 12 million Americans.  COPD – which includes emphysema and chronic bronchitis – is a term used to describe the obstruction of airflow.

COPD cannot be cured, but it can be treated. Early detection and diagnosis is the key to successful management of this chronic disease.

Emphysema is a long-term, progressive disease of the lungs that primarily causes shortness of breath due to over-inflation of the alveoli (air sacs in the lung). In people with emphysema, the lung tissue involved in exchange of gases (oxygen and carbon dioxide) is impaired or destroyed. Emphysema is included in a group of diseases called chronic obstructive pulmonary disease or COPD (pulmonary refers to the lungs). Emphysema is called an obstructive lung disease because airflow on exhalation is slowed or stopped because over-inflated alveoli do not exchange gases when a person breaths due to little or no movement of gases out of the alveoli.

Emphysema changes the anatomy of the lung in several important ways. This is due to in part to the destruction of lung tissue around smaller airways. This tissue normally holds these small airways, called bronchioles, open, allowing air to leave the lungs on exhalation. When this tissue is damaged, these airways collapse, making it difficult for the lungs to empty and the air (gases) becomes trapped in the alveoli.

Normal lung tissue looks like a new sponge. Emphysematous lung looks like an old used sponge, with large holes and a dramatic loss of “springy-ness” or elasticity. When the lung is stretched during inflation (inhalation), the nature of the stretched tissue wants to relax to its resting state. In emphysema, this elastic function is impaired, resulting in air trapping in the lungs. Emphysema destroys this spongy tissue of the lung and also severely affects the small blood vessels (capillaries of the lung) and airways that run throughout the lung. Thus, not only is airflow affected but so is blood flow. This has dramatic impact on the ability for the lung not only to empty its air sacs called alveoli (pleural for alveolus) but also for blood to flow through the lungs to receive oxygen.

10 Early Signs and Symptoms of Alzheimer’s

Alzheimer’s is a brain disease that causes a slow decline in memory, thinking and reasoning skills. There are 10 warning signs and symptoms. Every individual may experience one or more of these signs in different degrees. If you notice any of them, please see a doctor.

  • Memory loss that disrupts daily life
    One of the most common signs of Alzheimer’s is memory loss, especially forgetting recently learned information. Others include forgetting important dates or events; asking for the same information over and over; increasingly needing to rely on memory aids (e.g., reminder notes or electronic devices) or family members for things they used to handle on their own.
  • Challenges in planning or solving problems
    Some people may experience changes in their ability to develop and follow a plan or work with numbers. They may have trouble following a familiar recipe or keeping track of monthly bills. They may have difficulty concentrating and take much longer to do things than they did before.
  • Difficulty completing familiar tasks at home, at work or at leisure
    People with Alzheimer’s often find it hard to complete daily tasks. Sometimes, people may have trouble driving to a familiar location, managing a budget at work or remembering the rules of a favorite game.
  • Confusion with time or place
    People with Alzheimer’s can lose track of dates, seasons and the passage of time. They may have trouble understanding something if it is not happening immediately. Sometimes they may forget where they are or how they got there.
  • Trouble understanding visual images and spatial relationships
    For some people, having vision problems is a sign of Alzheimer’s. They may have difficulty reading, judging distance and determining color or contrast, which may cause problems with driving.
  • New problems with words in speaking or writing
    People with Alzheimer’s may have trouble following or joining a conversation. They may stop in the middle of a conversation and have no idea how to continue or they may repeat themselves. They may struggle with vocabulary, have problems finding the right word or call things by the wrong name (e.g., calling a “watch” a “hand-clock”).
  • Misplacing things and losing the ability to retrace steps
    A person with Alzheimer’s disease may put things in unusual places. They may lose things and be unable to go back over their steps to find them again. Sometimes, they may accuse others of stealing. This may occur more frequently over time.
  • Decreased or poor judgment
    People with Alzheimer’s may experience changes in judgment or decision-making. For example, they may use poor judgment when dealing with money, giving large amounts to telemarketers. They may pay less attention to grooming or keeping themselves clean.
  • Withdrawal from work or social activities
    A person with Alzheimer’s may start to remove themselves from hobbies, social activities, work projects or sports. They may have trouble keeping up with a favorite sports team or remembering how to complete a favorite hobby. They may also avoid being social because of the changes they have experienced.
  • Changes in mood and personality
    The mood and personalities of people with Alzheimer’s can change. They can become confused, suspicious, depressed, fearful or anxious. They may be easily upset at home, at work, with friends or in places where they are out of their comfort zone.

Myasthenia Gravis

What is myasthenia gravis?
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The name myasthenia gravis, which is Latin and Greek in origin, literally means “grave muscle weakness.” With current therapies, however, most cases of myasthenia gravis are not as “grave” as the name implies. In fact, most individuals with myasthenia gravis have a normal life expectancy.

The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Certain muscles such as those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing are often, but not always, involved in the disorder. The muscles that control breathing and neck and limb movements may also be affected.

What causes myasthenia gravis?
Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. It occurs when normal communication between the nerve and muscle is interrupted at the neuromuscular junction—the place where nerve cells connect with the muscles they control. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. Acetylcholine travels from the neuromuscular junction and binds to acetylcholine receptors which are activated and generate a muscle contraction.

In myasthenia gravis, antibodies block, alter, or destroy the receptors for acetylcholine at the neuromuscular junction, which prevents the muscle contraction from occurring. These antibodies are produced by the body’s own immune system. Myasthenia gravis is an autoimmune disease because the immune system—which normally protects the body from foreign organisms—mistakenly attacks itself.

What is the role of the thymus gland in myasthenia gravis?
The thymus gland, which lies in the chest area beneath the breastbone, plays an important role in the development of the immune system in early life. Its cells form a part of the body’s normal immune system. The gland is somewhat large in infants, grows gradually until puberty, and then gets smaller and is replaced by fat with age. In adults with myasthenia gravis, the thymus gland remains large and is abnormal. It contains certain clusters of immune cells indicative of lymphoid hyperplasia—a condition usually found only in the spleen and lymph nodes during an active immune response. Some individuals with myasthenia gravis develop thymomas (tumors of the thymus gland). Thymomas are generally benign, but they can become malignant.

The relationship between the thymus gland and myasthenia gravis is not yet fully understood. Scientists believe the thymus gland may give incorrect instructions to developing immune cells, ultimately resulting in autoimmunity and the production of the acetylcholine receptor antibodies, thereby setting the stage for the attack on neuromuscular transmission.

What are the symptoms of myasthenia gravis?
Although myasthenia gravis may affect any voluntary muscle, muscles that control eye and eyelid movement, facial expression, and swallowing are most frequently affected. The onset of the disorder may be sudden and symptoms often are not immediately recognized as myasthenia gravis.

In most cases, the first noticeable symptom is weakness of the eye muscles. In others, difficulty in swallowing and slurred speech may be the first signs. The degree of muscle weakness involved in myasthenia gravis varies greatly among individuals, ranging from a localized form limited to eye muscles (ocular myasthenia), to a severe or generalized form in which many muscles—sometimes including those that control breathing—are affected. Symptoms, which vary in type and severity, may include a drooping of one or both eyelids (ptosis), blurred or double vision (diplopia) due to weakness of the muscles that control eye movements, unstable or waddling gait, a change in facial expression, difficulty in swallowing, shortness of breath, impaired speech (dysarthria), and weakness is the arms, hands, fingers, legs, and neck.

Who gets myasthenia gravis?
Myasthenia gravis occurs in all ethnic groups and both genders. It most commonly affects young adult women (under 40) and older men (over 60), but it can occur at any age.

In neonatal myasthenia, the fetus may acquire immune proteins (antibodies) from a mother affected with myasthenia gravis. Generally, cases of neonatal myasthenia gravis are temporary and the child’s symptoms usually disappear within 2-3 months after birth. Other children develop myasthenia gravis indistinguishable from adults. Myasthenia gravis in juveniles is uncommon.

Myasthenia gravis is not directly inherited nor is it contagious. Occasionally, the disease may occur in more than one member of the same family.

Rarely, children may show signs of congenital myasthenia or congenital myasthenic syndrome. These are not autoimmune disorders, but are caused by defective genes that produce abnormal proteins instead of those which normally would produce acetylcholine, acetylcholinesterase (the enzyme that breaks down acetylcholine), or the acetylcholine receptor and other proteins present along the muscle membrane.

How is myasthenia gravis diagnosed?
Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or delayed (sometimes up to two years) in people who experience mild weakness or in those individuals whose weakness is restricted to only a few muscles.

The first steps of diagnosing myasthenia gravis include a review of the individual’s medical history, and physical and neurological examinations. The physician looks for impairment of eye movements or muscle weakness without any changes in the individual’s ability to feel things. If the doctor suspects myasthenia gravis, several tests are available to confirm the diagnosis.

A special blood test can detect the presence of immune molecules or acetylcholine receptor antibodies. Most patients with myasthenia gravis have abnormally elevated levels of these antibodies. Recently, a second antibody—called the anti-MuSK antibody—has been found in about 30 to 40 percent of individuals with myasthenia gravis who do not have acetylcholine receptor antibodies. This antibody can also be tested for in the blood. However, neither of these antibodies is present in some individuals with myasthenia gravis, most often in those with ocular myasthenia gravis.

The edrophonium test uses intravenous administration of edrophonium chloride to very briefly relieve weakness in people with myasthenia gravis. The drug blocks the degradation (breakdown) of acetylcholine and temporarily increases the levels of acetylcholine at the neuromuscular junction. Other methods to confirm the diagnosis include a version of nerve conduction study which tests for specific muscle “fatigue” by repetitive nerve stimulation. This test records weakening muscle responses when the nerves are repetitively stimulated by small pulses of electricity. Repetitive stimulation of a nerve during a nerve conduction study may demonstrate gradual decreases of the muscle action potential due to impaired nerve-to-muscle transmission.

Single fiber electromyography (EMG) can also detect impaired nerve-to-muscle transmission. EMG measures the electrical potential of muscle cells when single muscle fibers are stimulated by electrical impulses. Muscle fibers in myasthenia gravis, as well as other neuromuscular disorders, do not respond as well to repeated electrical stimulation compared to muscles from normal individuals.

Diagnostic imaging of the chest, using computed tomography (CT) or magnetic resonance imaging (MRI), may be used to identify the presence of a thymoma.

Pulmonary function testing, which measures breathing strength, helps to predict whether respiration may fail and lead to a myasthenic crisis.

How is myasthenia gravis treated?
Today, myasthenia gravis can generally be controlled. There are several therapies available to help reduce and improve muscle weakness. Medications used to treat the disorder include anticholinesterase agents such as neostigmine and pyridostigmine, which help improve neuromuscular transmission and increase muscle strength. Immunosuppressive drugs such as prednisone, azathioprine, cyclosporin, mycophenolate mofetil, and tacrolimus may also be used. These medications improve muscle strength by suppressing the production of abnormal antibodies. Their use must be carefully monitored by a physician because they may cause major side effects.

Thymectomy, the surgical removal of the thymus gland (which often is abnormal in individuals with myasthenia gravis), reduces symptoms in some individuals without thymoma and may cure some people, possibly by re-balancing the immune system. Thymectomy is recommended for individuals with thymoma. Other therapies used to treat myasthenia gravis include plasmapheresis, a procedure in which serum containing the abnormal antibodies is removed from the blood while cells are replaced, and high-dose intravenous immune globulin, which temporarily modifies the immune system by infusing antibodies from donated blood. These therapies may be used to help individuals during especially difficult periods of weakness. A neurologist will determine which treatment option is best for each individual depending on the severity of the weakness, which muscles are affected, and the individual’s age and other associated medical problems.

What are myasthenic crises?
A myasthenic crisis occurs when the muscles that control breathing weaken to the point that ventilation is inadequate, creating a medical emergency and requiring a respirator for assisted ventilation. In individuals whose respiratory muscles are weak, crises—which generally call for immediate medical attention—may be triggered by infection, fever, or an adverse reaction to medication.

What is the prognosis?
With treatment, most individuals with myasthenia can significantly improve their muscle weakness and lead normal or nearly normal lives. Some cases of myasthenia gravis may go into remission—either temporarily or permanently—and muscle weakness may disappear completely so that medications can be discontinued. Stable, long-lasting complete remissions are the goal of thymectomy and may occur in about 50 percent of individuals who undergo this procedure. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care.

Chiropractic Health Awareness: Get Vertical

Whatever your condition, there are steps you can take to improve your back health by getting vertical: standing up and exercising more. Moving helps increase circulation to your back, which in turn brings much needed nutrients to the disc spaces and soft tissues.

With this in mind, here are 7 tips to help you “Get Vertical”:

  1. Take a stand at work
    A health buzz word circulating for the past several months is “sitting disease.” Sitting too much all day, every day of the year has a serious impact our health. One study showed a significant increase in people’s mood and a decrease in their back pain when they stood for just one extra hour a day.If you work at the office all day, invest in a stand up desk. You can find simple, inexpensive models easily through an internet search.

    If a standing desk is not your style, aim to stand up and stretch at least every 20 minutes.

  2. Make an appointment with a physical therapist
    Physical therapy can have a profound effect on your spine health if you find the right therapist.
  3. Find a walking buddy
    Set a standing walking “date” with someone in your office or in your neighborhood who has a similar walking pace as you. Hopefully you’ll connect with someone who also has similar interests, so the time you spend walking will fly by.
  4. Or, just place a treadmill in your TV room
    Have you ever added up how many hours you actually spend watching your favorite TV series? Consider investing in a treadmill and walking at a moderate pace while you watch your favorite shows. You’ll be so engrossed in the plot lines you won’t even notice you’re moving!
  5. Adopt a dog
    Studies show dog owners tend to be happier and healthier than non-dog owners. It doesn’t take a study to show that if you have a dog, you’ll have to walk more. If you walk slowly, consider adopting an older dog who won’t demand a lot of time or energy, but who will just appreciate a home, and a low key walk every day. If you have more energy, go for a younger, more active dog to keep you on your toes.
  6. Or, offer to walk your neighbor’s dog
    If adopting a dog is too much responsibility, take notice of the harried mother down the street, or the elderly couple next door with dogs. Offering to walk their dogs even once or twice a week could be as big of a help to them as it is to your spine.
  7. Clean your own home
    If you really hate formal exercise, don’t discount how much you move when you clean your home and tend your own yard. Scrubbing the shower, mopping the floor, raking the leaves, pushing a mower all count as exercise. All these tasks accomplish the same things as formal exercises: they challenge your muscles and get your heart pumping.

Rett Syndrome Awareness

What is Rett Syndrome?
Rett syndrome is a postnatal neurological disorder seen almost always in girls, but can be rarely seen in boys. It is not a degenerative disorder.

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.


Testing and Diagnosis
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.

October is Down Syndrome Awareness Month

Down Syndrome Awareness Month is chance to spread awareness, advocacy and inclusion throughout the community. During the month of October, we celebrate  individuals with Down syndrome and make people aware of their abilities and accomplishments

What Is Down Syndrome?
In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

How Common is Down Syndrome?
One in every 691 babies in the the United States is born with Down syndrome, making Down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.

What Causes Down Syndrome?
Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

When Was Down Syndrome Discovered?
For centuries, people with Down syndrome have been alluded to in art, literature and science. It wasn’t until the late nineteenth century, however, that John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly work, published in 1866, that earned Down the recognition as the “father” of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity.

In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome. In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This accomplishment opened the door to great advances in Down syndrome research.

World Heart Day

World Heart Day

World Heart Day was founded in 2000 to inform people around the globe that heart disease and stroke are the world’s leading causes of death, claiming 17.3 million lives each year.

World Heart Day is an annual event which takes place on 29 September every year. Each year’s celebrations have a different theme, reflecting key issues and topics relating to heart health. The theme this year is: Heart-Healthy Environments.

For more information please visit the World Heart Federation’s Website!

Lymphoma Awareness

What Is Lymphoma?
Lymphoma is a group of cancers that begins in the lymphatic system. The function of the lymphatic system is to drain excess tissue fluid called lymph. The lymphatic system also contains blood cells known as lymphocytes, which are important in fighting infection. Lymphoma is the uncontrolled growth of lymphocytes.

What Are the Types of Lymphoma?
There are two types of lymphoma: Hodgkin’s and Non-Hodgkin’s Lymphoma.

  • Hodgkin’s Lymphoma is recognized by the presence of special cells that can be seen under the micros cope, called the Reed-Sternberg cell. Only 12.5% of all lymphomasare the Hodgkin’s type.
  • Non-Hodgkin’s Lymphoma is the most common type of lymphoma and is divided into many groups of lymphatic cancers. There are many different types of Non-Hodgkin’s Lymphoma.
What Are the Key Statistics About Lymphoma?
  • In the year 2015, about 80,900 people will be diagno sed with lymphoma. About 71,850 are expected to have the Non-Hodgkin’s type and about 9,050 for the Hodgkin’s type of lymphoma. Approximately 20,940 people will die of the disease this year.
What Are the Signs and Symptoms of Lymphoma?
  • A swelling of lymph nodes that does not cause pain. Lymph nodes are groups of cells found along the path of lymphatic vessels. They filter the lymphatic fluid and remove harmful substances. The most common sites of lymph node swellings are in the neck, armpit, groin, or the abdomen.
  • General symptoms can include fever, sweating, fatigue, loss of appetite, and bony pain.
  • There are no known strategies to prevent lymphoma.
What Are the Causes of Lymphoma?
  • In most cases, the cause of lymphoma remains unknown.
  • Patients with HIV (Human Immunodeficiency Virus) have a higher risk of developing lymphoma.
  • Stomach lymphoma can be caused by an infection in the stomach called Helicobacter Pylori. This infection is sometimes found in people that have stomach ulcers.

Leukemia Awareness

What Is Leukemia?
Leukemia is a cancer of the white blood cells, which help fight infection. It is caused by the uncontrolled growth of these cells. Leukemia starts in the bone marrow,
which is the spongy part inside the bones where blood cells are made. The cancer cells spread to the blood that circulates in the arteries and veins.
What Are the Key Statistics About Leukemia?
  • The American Cancer Society estimates that 54,270 people will be diagnosed with leukemia this year.
  • About 24,450 people are expected to die from leukemia in the year 2015.
  • Leukemia is commonly thought of as a childhood disease, yet it is diagnosed 10 times more often in adults
What Are the Types of Leukemia?
  • Based on the time it takes one to develop the disease, leukemia has two forms,acute and chronic leukemia.
  • Acute leukemia begins over a short period of time. In acute leukemia, there is a fast growth of immature cells in the bone marrow and peripheral blood.
  • Chronic leukemia develops over a longer period of time. Compared to acute leukemia, it has more mature cells in the bone marrow and peripheral blood.
  • Based on the type of blood cells, leukemia is divided into lymphocytic and myelogenous leukemia.
What Are the Signs and Symptoms of Leukemia?
  • There are no exact signs and symptoms of leukemia.
  • General symptoms include fatigue, or lack of energy, and flu-like symptoms including fever.
  • A loss of appetite may also occur.
  • Shortness of breath when active and a pale color of the skin and mucous membranes (this includes the lining of the inside of the nose and mouth). These symptoms are related to anemia, which is a decrease in the red blood cells that carry oxygen.
  • Easy bruising and bleeding due to a drop in the platelet count. Platelets are part of the blood cells that help form blood clots.Poor wound healing and infections.
  • This is because many of the white cells are immature and therefore not able to do their job.
What Are the Causes of Leukemia?
  • The exact cause of leukemia is not known.
  • In very rare cases, chemotherapy or radiation therapy used to treat one cancer leads to leukemia.
  • There are no known ways to prevent leukemia.

World Alzheimer’s Day

World Alzheimer’s Day, September 21st of each year, is a day on which Alzheimer’s organizations around the world concentrate their efforts on raising awareness about Alzheimer’s and dementia. Alzheimer’s disease is the most common form of dementia, a group of disorders that impairs mental functioning.

Every 68 seconds, someone develops Alzheimer’s disease. At current rates, experts believe the number of Americans living with Alzheimer’s will quadruple to as many as 16 million by the year 2050.

Alzheimer’s disease is often called a family disease, because the chronic stress of watching a loved one slowly decline affects everyone. 5.4 million Americans are living with Alzheimer’s. Alzheimer’s disease is the sixth-leading cause of death in the United States and the only cause of death among the top 10 in the United States that cannot be prevented, cured or even slowed. With the increases in life spans and baby boomers coming of age, support for Alzheimer’s research is more critical to our families than ever.

Rehabilitation Information

Rehabilitation describes specialized healthcare dedicated to improving, maintaining or restoring physical strength, cognition and mobility with maximized results. Typically, rehabilitation helps people gain greater independence after illness, injury or surgery.

Usually delivered by a diverse team of experts, rehabilitation blends many specialties for the best treatment plan, such as:

  • Physical therapy for increased strength and mobility
  • Occupational therapy for improved everyday living skills
  • Speech and language therapy for improved communication

Enhanced healing and function with rehabilitation therapy

Rehabilitation plays a critical role in healing, repair and recovery in a wide range of injuries, illnesses and conditions:

  • Improves speech, everyday skills and mobility in stroke, head injury and other neurological disorders
  • Strengthens bones and promotes muscular healing after total joint replacement surgery and other orthopedic surgery
  • Maximizes function and independence after spinal cord injury
  • And many others

Rehabilitation therapy pairs a team of expert doctors, nurses, therapists and other healthcare professionals with advanced technology. Each plan is custom-designed for the patient’s diverse individual needs.

September is Childhood Cancer Awareness Month

September is Childhood Cancer Awareness Month

Did you know?:

  • 1 in every 285 children in the U.S. will be diagnosed with cancer
  • In the U.S., one out of every five children with cancer will not survive
  • The vast majority of kids who do survive will suffer long-term side effects
  • 14,583 kids will be diagnosed with cancer this month alone

And every single one of them is hoping that the next treatment is the one that will save their life.

For more information you can visit St. Jude’s Website

Limb-Girdle Muscular Dystrophy

What is limb-girdle muscular dystrophy?
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.

In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.

Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) “stick out” from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.

Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing.

Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.

How common is limb-girdle muscular dystrophy?
It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.

Steinert’s Disease/Myotonic Dystrophy

What is myotonic dystrophy?
Myotonic dystrophy is an autosomal dominant inherited disease characterized by wasting of the muscles (muscular dystrophy), myotonia and multisystemic conditions. Myotonic dystrophy is one of the most common neuromuscular diseases in adults. Its prevalence rate is five cases out of 100,000 inhabitants.

What are the clinical signs?
Two major clinical forms can be distinguished, although both due to defects of the same gene.

The common form in adults, which combines:

  • Progressive muscular dystrophy (weakness and atrophy);
  • Myotonia: delayed relaxation of a muscle after an initial contraction (for example difficulty to release grip after shaking hands);
  • Defects in other organs: eye (cataracts in nearly all patients aged 40 and more), nervous system (sleep, cognitive function, or mood disorders), heart (heart rhythm disorders and/or conduction disturbances sometimes causing sudden death), respiratory system (pneumopathies), digestive system, endocrinal glands.

The severity of the disease depends upon the age of onset, clinical signs and progression.

The congenital form combines a clinical picture of neonatal hypotonia and severe acute respiratory distress. If the child survives, the disease progresses to become a disabling condition, especially at the intellectual level. Its exclusive maternal transmission pattern is still not clearly understood.

What is the cause?
Myotonic dystrophy is an autosomal dominant inherited disease. There is a 50-50 chance that affected parents will transmit the disease to any of their children. The myotonic dystrophy gene has now been located and identified precisely (chromosome 19). It codes for a protein kinase called myotonine, the function of which remains unclear. The peculiar type of the genetic defect may partially explain the anticipation phenomenon; the severity of symptoms increases as the disease is passed on to the next generation.

Rye’s Syndrome Awareness

Reye’s Syndrome, a deadly disease, strikes swiftly and can attack any child, teen, or adult without warning. All body organs are affected with the liver and brain suffering most seriously. While the cause and cure remain unknown, research has established a link between Reye’s Syndrome and the use of aspirin and other salicylate containing medications, over the counter products, and topical use products.

Reye’s Syndrome is a two-phase illness because it is almost always associated with a previous viral infection such as influenza (flu), cold, or chicken pox. Scientists do know that Reye’s Syndrome is not contagious and the cause is unknown. Reye’s Syndrome is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, Sudden Infant Death Syndrome, or psychiatric illness.

Reye’s Syndrome tends to appear with greatest frequency during January, February, and March when influenza is most common. Cases are reported in every month of the year. An epidemic of flu or chicken pox is commonly followed by an increase in the number of cases of Reye’s Syndrome.

When Reye’s Syndrome develops, it typically occurs when a person is beginning to recover from a viral illness.

Abnormal accumulations of fat begin to develop in the liver and other organs of the body, along with a severe increase of pressure in the brain. Unless diagnosed and treated successfully, death is common, often within a few days, and even a few hours. A person’s life depends upon early diagnosis. Statistics indicate an excellent chance of recovery when Reye’s Syndrome is diagnosed and treated in its earliest stages. The later the diagnosis and treatment, the more severely reduced are the chances for successful recovery and survival.

Atrial Fibrillation

Atrial fibrillation, often referred to as “afib”, is an irregular heartbeat, a rapid heartbeat, or a quivering of the upper chambers of the heart, called the atria. Atrial fibrillation is due to a malfunction in the heart’s electrical system, and is the most common heart irregularity, or cardiac arrhythmia.

Is Atrial Fibrillation Serious?
While atrial fibrillation may not sound serious, and is often considered to be a minor health issue, it can actually be quite risky and potentially even life threatening.

Since the blood doesn’t properly move from the atria into the ventricles and then on to the rest of the body, it can starve the body of oxygen-rich blood, leaving you feeling weak, tired, or even incapacitated.

Even more serious is that the blood that remains in the atria can pool and create blood clots, which may get spawned to the rest of the body, causing a stroke. Stroke is not only the number three killer, it is the number one cause of permanent disability.

For more information about Atrial Fibrillation you can go to: www.stopafib.org

Caregiver Fatigue Syndrome

Caregiver stress, aka Caregiver Fatigue Syndrome or Caregiver Burnout, is the byproduct of the countless responsibilities, physical demands, strained time and rollercoaster circumstances that come with the turf. And, since many caregivers consistently put others before themselves, if not addressed, this stress will only snowball.

It’s like the airplane oxygen illustration: Before you help others assemble their masks, you must first ensure you have your own. In this regard, before a caregiver can expect to offer their loved one in a wheelchair or loved one with a disability the best care, they must first take care of themselves.

Any imbalance, and the quality of care for your loved one can decrease while your personal stress and fatigue begin to climb.

Physical Symptoms
Many outsiders don’t realize what it takes to be a caregiver. Unless they’ve been in a similar situation, it’s hard to grasp the physical strain of all the lifts and pulls. Transport has been simplified with the help of mobility vehicles, but there are still the routine transitions from bed to bathroom to dinner and then back to bed. Caregiving is hard work.

If you experience any of the following symptoms, you may have caregiver burnout:
● Decrease in overall energy
● Decrease in immunity (subject to more frequent colds/flus)
● Inconsistent sleep patterns
● Chronic back and/or joint pain
● Weight gains

Emotional Drain
In addition to the uncertainty of medical circumstances and the rollercoaster ride that your loved one may be experiencing, it’s not uncommon for a caregiver to feel alone or assume that nobody understands their situation. Activities and hobbies that once brought you joy may be sidelined to your responsibilities and the constant championing of your loved one might not leave much room for your own pursuits.

You may experience:
● Irritability and frustration
● Difficulty relaxing
● Impatience
● Feelings of hopelessness and helplessness
● Dissatisfaction

Mental Exhaustion
Scheduling, logistics, medications and meals — caregivers are the gatekeepers, chauffeurs, advocates, cooks and everything in between for their loved one. There are too many moving parts to name. It’s no wonder things begin to get mentally draining.

Mental exhaustion may be exhibited through:
● Difficulty concentrating
● Feelings of confusion
● Periods of tunnel vision

No matter the symptoms, caregiver fatigue is a serious concern and you are not alone. Don’t buy into the idea that you’re the only caregiver facing these challenges.

If high-quality care for your loved one tops your list, remember that the best starts with the best you.

August is National Spinal Muscular Atrophy Awareness Month

Since 1996, Spinal Muscular Atrophy Awareness Month has worked to increase awareness of this condition, hoping that a boost in the public’s knowledge about SMA will improve resources for research and provide better care for patients.

What can YOU do to help?
As with any cause, getting the message out to the public is the best way to help. Here are a few ways through which you can let your family, friends and colleagues know about SMA Awareness Month.

Host an Event
Whether it’s a picnic at the park or a fundraiser at your library, an event can help promote SMA Awareness Month to a large number of people. Look into posting your event on your community’s calendar, in order to attract an even larger turnout.

Display Promotional Materials
To help enhance awareness events, you can choose to make or purchase promotional materials containing information about SMA, organizations working to find a cure, and ways to donate. Some families and groups have come up with creative ways to display informational materials, like posting ribbons with SMA facts throughout their neighborhood!

Spread the Word
If you are asked questions regarding SMA or your efforts during awareness month (or anytime of the year!), take the opportunity to educate others about the disease. Share all the knowledge you can and instruct those around you on how they, too, can help.

Donate
While this may not be a possibility for us all, monetary contributions can directly go towards funding life-saving research and scientific efforts. Whenever possible, make a donation to support the battle against SMA.

The efforts of those involved in Spinal Muscular Atrophy Awareness Month can help advance the search for a treatment or cure for those living with the disease. However you choose to get involved, we urge you to support this cause.

Fryns Syndrome

Fryns syndrome is an extremely rare inherited disorder characterized by multiple abnormalities that are present at birth (congenital). Characteristic symptoms and physical findings include protrusion of part of the stomach and/or small intestines into the chest cavity (diaphragmatic hernia), abnormalities of the head and face area (craniofacial region), and underdevelopment of the ends of the fingers and toes (distal digit hypoplasia). Additional symptoms include underdevelopment (hypoplasia) of the lungs, incomplete closure of the roof of the mouth (cleft palate), cardiac defects, and varying degrees of mental retardation. Fryns syndrome is inherited as an autosomal recessive trait.

Symptoms
Fryns syndrome is associated with numerous abnormalities of varying severity such as protrusion of part of the stomach and/or small intestines into the chest cavity (diaphragmatic hernia), unusual facial features, and abnormalities of the fingers and toes. The number and severity of symptoms and physical findings will vary greatly from case to case.

Some symptoms such as diaphragmatic hernia, underdevelopment of the lungs, and cardiac defects may result in life-threatening complications during the newborn (neonatal) period.

Approximately 89 percent of all infants with Fryns syndrome have diaphragmatic hernia of varying degrees of severity. Lung hypoplasia and deformity of the lobes of the lungs also occurs in most cases. In some cases, affected infants may also have an abnormally small upper chest (thorax) and abnormal accumulation of milky fluid (chyle) in the thorax (chylothorax). Cases of Fryns syndrome in which affected infants do not have diaphragmatic hernia are considered less severe.

Infants with Fryns syndrome also have characteristic facial features that give the face a coarse appearance. These features include an abnormally small jaw (micrognathia) that may be displaced father back than normal (retrognathia); a broad, flat nasal bridge; an abnormally wide mouth (macrostomia); and incomplete closure of the roof of the mouth (cleft palate). In addition, affected infants may also have cloudy lenses of the eyes (corneal clouding); malformation (dysplasia) of the outer ears (pinnae) with underdeveloped lobes; an abnormal groove in the upper lip (cleft lip); a large, upturned nose; and a short, broad neck.

Another characteristic symptom of Fryns syndrome is underdevelopment of the tips of the fingers and toes (distal digit or acral hypoplasia). Affected infants may have underdeveloped or absent nails, abnormally short bones in the tips of the fingers and toes (terminal phalanges), and permanently flexed fingers (camptodactyly).

Affected infants may also have various abnormalities affecting the central nervous system. In approximately 50 percent of cases, Dandy-Walker malformation may be present. Dandy-Walker malformation is a rare malformation of the brain characterized by an abnormally enlarged space at the back of the brain (cystic 4th ventricle) that interferes with the normal flow of cerebrospinal fluid through the openings between the ventricle and other parts of the brain. In many cases, an abnormal cystic growth consisting of dilated lymph vessels beneath the skin in the neck area (cystic hygroma) may be present. Affected infants may also exhibit absence of the thick band of nerve fibers that connects the left and right hemispheres of the brain (agenesis of the corpus callosum), accumulation of excessive cerebrospinal fluid in the skull (hydrocephalus), and absence of a structure of the brain (rhinecephalon) associated with the sense of smell (arrhinencephaly). For more information on these disorders, choose “Hydrocephalus” “Dandy Walker” and “Agenesis of Corpus Callosum” as your search terms in the Rare Disease Database.)

Approximately 55 percent of infants with Fryns syndrome exhibit congenital heart (cardiac) defects including atrial and ventricular septal defects (VSDs and ASDs). These septal defects are the most common structural heart defects. ASDs are characterized by an abnormal opening in the fibrous partition (septum) that separates the two upper chambers (atria) of the heart. VSDs are characterized by an abnormal opening in the septum that divides the heart’s two lower chambers (ventricles).

Skeletal abnormalities may be present in some infants with Fryns syndrome including abnormal side-to-side curvature of the spine (scoliosis), extra ribs, and (osteochondrodysplasia).

Some infants with Fryns syndrome may have abnormalities of the genitourinary system. Females may exhibit malformation of the uterus with unusual “horn-shaped” branches (bicornuate uterus) and underdeveloped ovaries. Males may experience failure of one or both testes to descend into the scrotum (cryptorchidism) and placement of the urinary opening on the underside of the penis (hypospadias). Kidney (renal) abnormalities may also be present including cysts in the kidneys and malformation (dysplasia) of the kidneys.

Digestive abnormalities secondary to diaphragmatic hernia may also occur in some infants with Fryns syndrome including twisting (malrotation) of the intestines, protrusion of part of the intestines through an abnormal opening near the umbilical cord (omphalocele), esophageal atresia, and/or imperforate anus. Esophageal atresia is a condition in which the tube that carries food from the mouth to the stomach (esophagus) ends in a pouch instead of connecting to the stomach. Imperforate anus is a rare condition in which a thin covering (membrane) blocks the anal opening or the passage that connects the anus and the lowest part of the large intestine (rectum) fails to develop.

Causes
Fryns syndrome is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In recessive disorders, the condition does not occur unless an individual inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Parents of several individuals with the disorder have been closely related (consanguineous). If both parents carry the same disease gene, then there is a higher-than-normal risk that there children may inherit the two genes necessary for the development of the disorder.

Fibromyalgia

What Is Fibromyalgia?
Fibromyalgia is a disorder that causes muscle pain and fatigue (feeling tired). People with fibromyalgia have “tender points” on the body. Tender points are specific places on the neck, shoulders, back, hips, arms, and legs. These points hurt when pressure is put on them.

People with fibromyalgia may also have other symptoms, such as:

  • Trouble sleeping
  • Morning stiffness
  • Headaches
  • Painful menstrual periods
  • Tingling or numbness in hands and feet
  • Problems with thinking and memory (sometimes called “fibro fog”).

A person may have two or more coexisting chronic pain conditions. Such conditions can include chronic fatigue syndrome, endometriosis, fibromyalgia, inflammatory bowel disease, interstitial cystitis, temporomandibular joint dysfunction, and vulvodynia. It is not known whether these disorders share a common cause.

What Causes Fibromyalgia?
The causes of fibromyalgia are unknown. There may be a number of factors involved. Fibromyalgia has been linked to:

  • Stressful or traumatic events, such as car accidents
  • Repetitive injuries
  • Illness
  • Certain diseases.

Fibromyalgia can also occur on its own.

Some scientists think that a gene or genes might be involved in fibromyalgia. The genes could make a person react strongly to things that other people would not find painful.

Who Is Affected by Fibromyalgia?
Scientists estimate that fibromyalgia affects 5 million Americans 18 or older. Between 80 and 90 percent of people diagnosed with fibromyalgia are women. However, men and children also can have the disorder. Most people are diagnosed during middle age.

People with certain other diseases may be more likely to have fibromyalgia. These diseases include:

  • Rheumatoid arthritis
  • Systemic lupus erythematosus (commonly called lupus)
  • Ankylosing spondylitis (spinal arthritis).

Women who have a family member with fibromyalgia may be more likely to have fibromyalgia themselves.

How Is Fibromyalgia Treated?
Fibromyalgia can be hard to treat. It’s important to find a doctor who is familiar with the disorder and its treatment. Many family physicians, general internists, or rheumatologists can treat fibromyalgia. Rheumatologists are doctors who specialize in arthritis and other conditions that affect the joints or soft tissues.

Fibromyalgia treatment often requires a team approach. The team may include your doctor, a physical therapist, and possibly other health care providers. A pain or rheumatology clinic can be a good place to get treatment.

What Can I Do to Try to Feel Better?
There are many things you can do to feel better, including:

  • Taking medicines as prescribed
  • Getting enough sleep
  • Exercising
  • Eating well
  • Making work changes if necessary.

What Research Is Being Done on Fibromyalgia?
The NIAMS sponsors research to help understand fibromyalgia and find better ways to diagnose, treat, and prevent it. Researchers are studying:

  • Why people with fibromyalgia have increased sensitivity to pain.
  • Medicines and behavioral treatments.
  • Whether there is a gene or genes that make a person more likely to have fibromyalgia.
  • The use of imaging methods, such as magnetic resonate imaging (MRI), to better understand fibromyalgia.
  • Inflammation in the body and its relationship to fibromyalgia.
  • Nondrug therapies to help reduce pain.
  • Methods to improve sleep in people with fibromyalgia.

Osteogenesis Imperfecta

Definition
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected. For example, a person may have just a few or as many as several hundred fractures in a lifetime.

Prevalence
While the number of people affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000.

Diagnosis
OI is caused by genetic defects that affect the body’s ability to make strong bones. In dominant (classical) OI, a person has too little type I collagen or a poor quality of type I collagen due to a mutation in one of the type I collagen genes. Collagen is the major protein of the body’s connective tissue. It is part of the framework that bones are formed around. In recessive OI, mutations in other genes interfere with collagen production. The result in all cases is fragile bones that break easily.

It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. These tests generally require several weeks before results are known. Both the collagen biopsy test and DNA test are thought to detect almost 90% of all type I collagen mutations.

A positive type I collagen study confirms the diagnosis of dominant OI, but a negative result could mean that either a collagen type I mutation is present but was not detected or the patient has a form of the disorder that is not associated with type 1 collagen mutations or the patient has a recessive form of OI. Therefore, a negative type I collagen study does not rule out OI. When a type I collagen mutation is not found, other DNA tests to check for recessive forms are available.

Clinical Features
The characteristic features of OI vary greatly from person to person, even among people with the same type of OI, and even within the same family. Not all characteristics are evident in each case. The majority of cases of OI (possibly 85-90 %) are caused by a dominant mutation in a gene coding for type I collagen (Types I, II, III, and IV in the following list). Types VII and VIII are newly identified forms that are inherited in a recessive manner. The genes causing these two types have been identified. Types V and VI do not have a type 1 collagen mutation, but the genes causing them have not yet been identified. The general features of each known type of OI are as follows:

Type I

  • Most common and mildest type of OI.
  • Bones fracture easily. Most fractures occur before puberty.
  • Normal or near-normal stature.
  • Loose joints and muscle weakness.
  • Sclera (whites of the eyes) usually have a blue, purple, or gray tint.
  •  Triangular face.
  • Tendency toward spinal curvature.
  • Bone deformity absent or minimal.
  • Brittle teeth possible.
  • Hearing loss possible, often beginning in early 20s or 30s.
  • Collagen structure is normal, but the amount is less than normal.

Type II

  • Most severe form.
  • Frequently lethal at or shortly after birth, often due to respiratory problems.
  • Numerous fractures and severe bone deformity.
  • Small stature with underdeveloped lungs.
  • Tinted sclera.
  • Collagen improperly formed.

Type III

  • Bones fracture easily. Fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth.
  • Short stature.
  • Sclera have a blue, purple, or gray tint.
  • Loose joints and poor muscle development in arms and legs.
  • Barrel-shaped rib cage.
  • Triangular face.
  • Spinal curvature.
  • Respiratory problems possible.
  • Bone deformity, often severe.
  • Brittle teeth possible.
  • Hearing loss possible.
  • Collagen improperly formed.

Type IV

  • Between Type I and Type III in severity.
  • Bones fracture easily. Most fractures occur before puberty.
  • Shorter than average stature.
  • Sclera are white or near-white (i.e. normal in color).
  • Mild to moderate bone deformity.
  • Tendency toward spinal curvature.
  • Barrel-shaped rib cage.
  • Triangular face.
  • Brittle teeth possible.
  • Hearing loss possible.
  • Collagen improperly formed.

By studying the appearance of OI bone under the microscope, investigators noticed that some people who are clinically within the Type IV group had a distinct pattern to their bone. When they reviewed the full medical history of these people, they found that groups had other features in common. They named these groups Types V and VI OI. The mutations causing these forms of OI have not been identified, but people in these two groups do not have mutations in the type I collagen genes.

Type V

  • Clinically similar to Type IV in appearance and symptoms of OI.
  • A dense band seen on x-rays adjacent to the growth plate of the long bones.
  • Unusually large calluses (hypertrophic calluses) at the sites of fractures or surgical procedures. (A callus is an area of new bone that is laid down at the fracture site as part of the healing process.)
  • Calcification of the membrane between the radius and ulna (the bones of the forearm). This leads to restriction of forearm rotation.
  • White sclera.
  • Normal teeth.
  • Bone has a “mesh-like” appearance when viewed under the microscope.
  • Dominant inheritance pattern

Type VI

  • Clinically similar to Type IV in appearance and symptoms of OI.
  • The alkaline phosphatase (an enzyme linked to bone formation) activity level is slightly elevated in OI Type VI. This can be determined by a blood test.
  • Bone has a distinctive “fish-scale” appearance when viewed under the microscope.
  • Diagnosed by bone biopsy.
  • Whether this form is inherited in a dominant or recessive manner is unknown, but researchers believe the mode of inheritance is most likely recessive.
  • Eight people with this type of OI have been identified.

Recessive Forms of OI
After years of research, two forms of OI that are inherited in a recessive manner were discovered in 2006. Both types are caused by genes that affect collagen formation. These forms provide information for people who have severe or moderately severe OI but who do not have a primary collagen mutation.

Type VII

  • The first described cases resemble Type IV OI in many aspects of appearance and symptoms.
  • In other instances the appearance and symptoms are similar to Type II lethal OI, except infants had white sclera, a small head and a round face.
  • Short stature.
  • Short humerus (arm bone) and short femur (upper leg bone)
  • Coxa vera is common (the acutely angled femur head affects the hip socket).
  • Results from recessive inheritance of a mutation to the CRTAP (cartilage-associated protein) gene. Partial function of CRTAP leads to moderate symptoms while total absence of CRTAP was lethal in all 4 identified cases.

Type VIII

  • Resembles lethal Type II or Type III OI in appearance and symptoms except that infants have white sclera.
  • Severe growth deficiency.
  • Extreme skeletal under mineralization.
  • Caused by a deficiency of P3H1 (Prolyl 3-hydroxylase 1) due to a mutation to the LEPRE1 gene.

Inheritance Factors
Most cases of OI (85-90%) are caused by a dominant genetic defect. This means that only one copy of the mutation carrying gene is necessary for the child to have OI. Children who have the dominant form of OI have either inherited it from a parent or, when the parent does not have OI, as a spontaneous mutation.

Approximately 10-15 percent of cases of OI are the result of a recessive mutation. In this situation, the parents do not have OI, but both carry the mutation in their genes. To inherit recessive OI the child must receive a copy of the mutation from both parents.

When a child has recessive OI, there is a 25 percent chance per pregnancy that the parents will have another child with OI. Siblings of a person with a recessive form of OI have a 50 percent chance of being a carrier of the recessive gene. DNA testing is available to help parents and siblings determine if they are carriers of this type of gene mutation.

A person with a form of OI caused by a dominant mutation has a 50 percent chance of passing on the disorder to each of his or her children. If one parent has OI because of a recessive mutation, 100 percent of their children will be carriers of the recessive OI mutation. Whether any of these children will have OI will depend on their inheritance from the other parent. Genetic counselors can help people with OI and their family members further understand OI genetics and the possibility of recurrence, and assist in prenatal diagnosis for those who wish to exercise that option. For more information on OI inheritance, see the OI Foundation fact sheet titled “Genetics.”

Treatment
There is not yet a cure for OI. Treatment is directed toward preventing or controlling the symptoms, maximizing independent mobility, and developing optimal bone mass and muscle strength. Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for people with OI. Use of wheelchairs, braces, and other mobility aids is common, particularly (although not exclusively) among people with more severe types of OI.

People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. Swimming and water therapy are common exercise choices for people with OI, as water allows independent movement with little risk of fracture. For those who are able, walking (with or without mobility aids) is excellent exercise. People with OI should consult their physician and/or physical therapist to discuss appropriate and safe exercise.

Children and adults with OI will also benefit from maintaining a healthy weight, eating a nutritious diet, and avoiding activities such as smoking, excessive alcohol and caffeine consumption, and taking steroid medications — all of which may deplete bone and make bones more fragile. For more information on nutrition, see the OI Foundation fact sheet titled “Nutrition.”

A surgical procedure called “rodding” is frequently considered for people with OI. This treatment involves inserting metal rods through the length of the long bones to strengthen them and prevent and/or correct deformities. For more information, see the OI Foundation’s fact sheet on “Rodding Surgery.”

Several medications and other treatments are being explored for their potential use to treat OI. These include growth hormone treatment, treatment with intravenous and oral drugs called bisphosphonates, an injected drug called teriparatide (for adults only) and gene therapies. It is not clear if people with recessive OI will respond in the same manner as people with dominant OI to these treatments. The OI Foundation provides current information on research studies, as well as information about participating in clinical trials.

Prognosis
The prognosis for a person with OI varies greatly depending on the number and severity of symptoms. Respiratory failure is the most frequent cause of death for people with OI, followed by accidental trauma. Despite numerous fractures, restricted physical activity, and short stature, most adults and children with OI lead productive and successful lives. They attend school, develop friendships and other relationships, have careers, raise families, participate in sports and other recreational activities and are active members of their communities.

August is SMA Awareness Month

August is SMA Awareness month and families and friends around the country are joining together to help increase awareness—not only of SMA, but also of our hope for a treatment and cure.

What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.  The lower extremities are most often affected.  Complications include scoliosis and chronic shortening of muscles or tendons around joints.

Is there any treatment?
There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications.

What is the prognosis?
The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms – older children tend to have less severe symptoms  Life expectancy is reduced but some individuals live into adolescence or young adulthood.  Individuals with SMA type III may be prone to respiratory infections but with care may have a normal lifespan.

What research is being done?
Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could be used as potential leads for further drug discovery and clinical testing. Read more about the history of this pioneering effort and how it led to collaboration with several pharmaceutical and biotechnology companies.

Osteoporosis Awareness

General Facts

  • Osteoporosis is a disease of the bone that makes a person’s bones weak and more likely to break. Approximately 9 million Americans have osteoporosis and another 43 million have low bone density, placing them at increased risk.
  • This means that nearly 60% of adults age 50 and older are at risk of breaking a bone and should be concerned about bone health.
  • One in two women and up to one in four men will break a bone in their lifetime due to osteoporosis. For women, the incidence is greater than that of heart attack, stroke and breast cancer combined.
  • There is no cure for osteoporosis, but there are steps you can take to prevent, slow or stop its progress. Diet, exercise and a healthy lifestyle are keys to preventing and managing the disease.
  • NOF recommends five steps to improve bone health and prevent osteoporosis:
    1. Get the calcium and vitamin D you need every day.
    2. Do regular weight-bearing and muscle-strengthening exercises.
    3. Don’t smoke and don’t drink too much alcohol.
    4. Talk to your healthcare provider about your chance of getting osteoporosis and ask when you should have a bone density test.
    5. Take an osteoporosis medication when it’s right for you.

About Osteoporosis
Osteoporosis is a disease of the bone.

  • Osteoporosis is often called a “silent disease” because you cannot feel your bones getting weaker.
  • You may not even know you have osteoporosis until after you break a bone.

Osteoporosis is serious, even deadly.

  • A woman’s risk of hip fracture is equal to her combined risk of breast, uterine and ovarian cancer.
  • A man is more likely to break a bone due to osteoporosis than he is to get prostate cancer.
  • 24 percent of hip fracture patients age 50 and over die in the year following the fracture.
  • Six months after a hip fracture, only 15 percent of patients can walk across a room unaided.
  • Every year, of nearly 300,000 hip fracture patients, one-quarter end up in nursing homes and half never regain previous function

Osteoporosis is costly.

  • Osteoporosis-related bone breaks cost patients, their families and the healthcare system $19 billion annually.
  • By 2025, experts predict that osteoporosis will be responsible for three million fractures resulting in $25.3 billion in costs.

Osteoporosis is preventable.

  • About 85-90 percent of adult bone mass is acquired by age 18 in girls and 20 in boys.
  • Building strong bones during childhood and adolescence can help prevent osteoporosis later in life.
  • NOF recommends five steps to improve bone health and prevent osteoporosis:
    1. Get the calcium and vitamin D you need every day.
    2. Do regular weight-bearing and muscle-strengthening exercises.
    3. Don’t smoke and don’t drink too much alcohol.
    4. Talk to your healthcare provider about your chance of getting osteoporosis and ask when you should have a bone density test.
    5. Take an osteoporosis medication when it’s right for you.

Osteoporosis is manageable.

  • Although there is no cure for osteoporosis, there are steps you can take to prevent, slow or stop its progress. Eating a healthy diet and exercising regularly can help slow or stop the loss of bone mass and help prevent fractures.
  • About half of osteoporosis-related repeat fractures can be prevented with appropriate treatment.
  • A bone density test is the best way to diagnose osteoporosis and determine a treatment plan. If your T-score is-2.5 or lower, indicating that you have osteoporosis, or if you have other significant risk factors for breaking a bone, talk to your healthcare provider about starting an osteoporosis treatment plan that includes taking an osteoporosis medicine.
  • In choosing an osteoporosis medication, be sure to discuss the risks and benefits of all treatment options with your healthcare provider to determine which treatment plan is best for you.
  • In order for your medicine to work, it’s important to exercise regularly an make sure you get the recommended amount of calcium and vitamin D every day from food and supplements.
  • Once you start taking an osteoporosis medicine, your bone density test by central DXA should be repeated at least every two years to monitor its effects. After starting a new osteoporosis medicine, many healthcare providers will repeat a bone density test after one year.

Huntington’s Disease Awareness

What is Huntington’s Disease?
Huntington’s disease (HD) is an inherited brain disorder that results in the progressive loss of both mental faculties and physical control. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complication.

Everyone has the HD gene but it is those individuals that inherit the expansion of the gene who will develop HD and perhaps pass it onto each of their children.

Presently, there is no cure. Although medications can relieve some symptoms, research has yet to find a means of slowing the deadly progression of HD.

Current estimates are that 1 in every 10,000 Americans has HD and more than 250,000 others are at-risk of having inherited it from a parent. Once thought a rare disease, HD is now considered one of the more common hereditary diseases.

Every person who inherits the expanded HD gene will eventually develop the disease.
Over time, HD affects the individual’s ability to reason, walk and speak

Symptoms Include:

  • Personality changes, mood swings and depression
  • Forgetfulness and impaired judgment
  • Unsteady gait and involuntary movements
  • Slurred speech and difficulty in swallowing

The Scope of HD
Approximately 30,000 Americans have HD, but the devastating effects of the disease touch many more. Within a family, multiple generations may have inherited the disease. Those at-risk may experience tremendous stress from the uncertainty and sense of responsibility. In the community, lack of knowledge about HD may keep friends and neighbors from offering social and emotional support to the family, fostering unnecessary isolation. The Huntington’s Disease

Society of America (HDSA) has a nationwide network that provides support and referrals for individuals with HD and their families.

Genetic Testing for HD
Individuals can be tested for the gene that causes HD. The test may be used to confirm a diagnosis of HD, but may also be used as a predictive test before symptoms arise. Some individuals at-risk for HD feel that it is important to know whether they carry the gene. Others ultimately choose not to be tested. While the actual procedure is simple, the decision to have the test is not. HDSA recommends that persons wishing to undergo presymptomatic testing for HD do so at one of our HDSA Centers of Excellence, or at a testing center with specific training in working with HD. A list of these testing centers is available from HDSA

HD affects both sexes and all races and ethnic groups around the world.
The Decision to test is highly personal and should never be rushed or forced.

Who is At-Risk?
Every child of a parent with HD has a  50/50 chance of inheriting the expanded gene that causes the disease. If the child has not inherited this expanded gene, he or she will never develop the disease and cannot pass it on to their children.

Genetic Information Nondiscrimination Act of 2008 (GINA)
The Genetic Information Nondiscrimination Act (GINA) protects people from discrimination by health insurers and employers on the basis of their DNA information. This federal law also enables individuals to take part in research studies without fear that their DNA information might be used against them by health insurers or in the workplace.

However, GINA protections do not extend to long term care, disability or life insurance policies. Anyone contemplating testing should first consider adding one or more of these types of policies before starting the testing process.

Advocacy
HDSA advocacy works to advance legislation and policy to improve the lives of HD families by raising awareness about HD in the U.S. Congress, by promoting legislation, policy and regulations that would help individuals in the HD community, by educating Federal agencies about HD, and by partnering and collaborating with national organizations that have common goals. Learn more at www.hdsa.org/advocacy.

Join us in the fight against HD
YOU can help HDSA in our efforts to end HD and provide resources for those who must face this disease daily. Both funds and volunteers are needed. Contact the HDSA National Office to find out how YOU can help.

HD does not skip generations; if one does not inherit the expanded gene, one cannot pass it on

An End To HD?
In 1993, researchers identified the gene that causes HD. Since then, research has moved quickly towards developing treatments and, ultimately, a cure. HDSA supports the goals of clinical and basic research at leading research facilities globally.

Clinical and observational trials are an important way you can help to sustain the momentum of HD research and move potential new therapies through the approval process. Visit the Research section of the HDSA website for more information and to find a trial in your area. There are opportunities for all HD family members – gene positive, at-risk, gene negative, and caregivers – to participate.

About HDSA
The Huntington’s Disease Society of America (HDSA) is the largest 501(C)(3) non-profit volunteer organization dedicated to improving the lives of everyone affected by Huntington’s disease. Founded in 1968 by Marjorie Guthrie, wife of folk legend Woody Guthrie who lost his battle with HD, the Society works tirelessly to provide family services, education, advocacy and research to provide help for today, hope for tomorrow to the more than 30,000 people diagnosed with HD and the 250,000 at-risk in the United States.

Where to find help
You are not alone in facing HD. HDSA has developed a nationwide network that includes Chapters and Affiliates, HDSA Centers of Excellence, Support Groups, and Social Workers that are ready to assist you with referrals and resources in your area. To learn more, please visit www.hdsa.org or call 888-HDSA-506.

Research worldwide is working to unlock the mystery of HD and find a cure

Traumatic Brain Injury

Traumatic Brain Injury and Closed Head Injury commonly occur due to motor vehicle collisions. Injuries can range from a loss of consciousness of less than five minutes to being comatose for many months. Any level of injury can cause an increase in pre-injury bad driving behaviors or create new, unsafe driving issues. These issues can stem from problems with vision, accuracy and speed of eye movements, speed of response, attention, memory, problem solving, judgment and/or loss of physical skills. It can spare one skill and wipe another skill completely from memory. It commonly makes learning new information difficult and may keep a survivor from quickly learning from their mistakes. All of the above can result in unsafe driving encounters, unpredictable driving actions or repeat collisions for the survivor.

If someone you know has been in an accident or has had a TBI, look for the following warning signs:

  • Inappropriate driving speeds
  • Is slow to identify and avoid potentially hazardous situations
  • Needs help or instruction from passengers
  • Doesn’t observe signs or signals or speed limits
  • Leaves out important road, traffic or warning information
  • Slow or poor decisions to traffic or road changes
  • Easily frustrated or confused
  • Pattern of getting lost, even in familiar areas
  • Collisions or near misses
  • Blames their driving mistakes on the behavior of other drivers

If you or those that drive with you notice any of the above warning signs and need a driving evaluation, give us a call at 508-697-6006 and we can, help you with with knowledge about medical conditions, and help with a comprehensive evaluation and determine your ability to drive.

  • Visual Perception
  • Functional Ability
  • Reaction Time
  • Behind-the-wheel evaluation

How to adapt your new or pre-owned vehicle to meet your needs after a stroke

Driving after a stroke is often a major concern for survivor’s and their loved ones. It prompts many questions about ability, safety and vehicle options. Often times, the physical disadvantages that result from stroke can compromise a survivor’s ability to operate their vehicle.

Advances in the vehicle modification industry have introduced new driving controls that are giving independence back to stroke survivors that want to drive. They allow them to get back behind the wheel in their own vehicle to go where they want to go, when they want to go.

Innovative vehicle modifications such as hand controls, left-foot accelerators, lifts and mobility seating can transform your personal vehicle into a vehicle that give you more freedom.

Mobility equipment dealers strive to remain at the forefront of the vehicle modification industry by providing cutting-edge technology and a full selection of adaptable equipment for your pre-owned vehicle.

Hand Controls For Stroke Survivors with Limited Use of their Feet
Automotive Innovations is New England’s  #1 hand control installation facility  manufacturer of hand controls and driving aids for the disabled. Hand control systems are specifically designed to give drivers the benefit of controlling a vehicle with both hands on the wheel making for a safer, smoother driving experience.

Unlike other manual and or servo hand control installers in Massachusetts, Rhode Island, Connecticut, Vermont, New Hampshire and Maine, we have the ability to offer a custom fitment to your vehicle and you, for everything from a Fiat 500 to a Lamborghini Aventador no one else has the master craftsman, machining equipment and facility capable of performing a custom installation the way we can.

Push Rock hand controls have a handle in a vertical position; accelerating by rocking back in an arching motion using the fingers and/or the palm. There are several additional options to choose from:

  • Spinner knob: Attached to the steering wheel to allow controlled steering with use of one hand.
  • Single Pin: As an alternative to the spinner knob, this hand control was designed for clients that cannot open their hand fully.
  • Tri Pin: Great for an independent driver. It requires minimal gripping strength and/or reduced wrist stability.
  • V-Grip: This attachment is intended for drivers with moderate gripping strength.
  • Steering Wheel Extension: This device is individually customizable, so you can pick a diameter and height that best suits your needs. The easily removable device is completely compatible with any OEM steering wheel.

Servo electronic mobility controls offers driving control products that are safe and provide piece of mind every time you are on the road.

  • Lever  A gas/brake input with adjustable levels of force and travel from the full gas to the full brake position. It is designed for customers that have a wider range of motion and a larger effort level.
  • One handed steering and gas brake  A input that you can steer that is available in a two-axis configuration for gas/brake and steering It has a adjustable range of motion and very low levels  of force to operate. It is designed and custom build for each customers specific range of motion and abilities.
  • Wheel  A steering input that can be adjusted to less than 2 oz of force at the proper orthotic position of 3 3/8” from center. It is also able to be adaptable for customers that have a wider range of motion.

Left-foot Accelerator
Automotive Innovations offers the best left foot gas pedals with unmatched installations.  Left-foot accelerator are designed to offer a left foot gas pedal which acts exactly like your vehicle’s existing gas pedal. Our Left foot gas pedals are removable with features like a quick-release base so the entire assembly can be removed and re-installed quickly and easily.

Lifts for Stroke Survivors that use Wheelchairs or Walkers
Automotive Innovations can offer more solutions for the transportation of your mobility device than any other dealership in New England.

” Its worth the drive, I live in the western part of Massachusetts and will never trust my van with anyone other than Automotive Innovations. They have been taking care of me and my vans since 1996. When a company comes through for you time and time again whats that worth? For me it’s priceless and the drive is irrelevant.”

Chris P Whately, MA

  • Scooter & Wheelchair Lifts while are not always practical they do work in all types of vehicles. These fold-down wheelchair and scooter lifts make lifting and storing your manual folding wheelchair or scooter possible.

Mobility Seating
The mobility transfer seat is an innovative system for lower vehicles which can provide easer  access to an automotive seat. The seat power rotates out over the doorsill, bridging the gap for a safe transfer onto the seat. These seats are not always practical for every type of vehicle

Our goal is to match your lifestyle and your vehicle with equipment that will deliver independence.

Finding a Dealer That’s Up to Standards

Hand controls, left-foot accelerator, lifts and mobility seating offers opportunities for the stroke survivor to regain their mobility freedom in their pre-owned vehicle. You have just found the best mobility dealer in all of New England that offers a ever evolving selection of adaptable equipment.

It is important to select a reputable dealer to provide the adaptable equipment and installation for your pre-owned vehicle.

  1. Are they members of the National Mobility Equipment Dealers Association (NMEDA) or another organization that has vehicle conversion standards?
  2. Are they Quality Assurance Program (QAP) certified?
  3. Do they provide ongoing service and maintenance?
  4. Do they provide 24/7 emergency service?
  5. Do they provide training on the adaptable equipment?
  6. Can the equipment be transferred to a new vehicle in the future?

Adapting pre-owned vehicles provides stroke survivors with mobility freedom in the vehicle they love and are familiar with.

Asperger Syndrome

About AS:

  • It is a neurological disorder that affects the way information is processed in the brain.
  • AS is a hidden disability. Many people appear very competent, but they have difficulties in the areas of communication and social interaction.
  • AS has a genetic and hereditary component and may have additional or interactive environmental causes as yet unknown.
  • AS is a developmental disability. All individuals have social/emotional delays, but continued growth seems to be life-long.
  • The incidence of AS is thought to be 1 in 250. As many as 50% of people with AS may be undiagnosed.
  • There are currently four males diagnosed with AS for every one female, but the true ratio may be as high as one female for every two males.

AS affects each person differently, although there is a core set of features that most people with AS have, to different extents:

  • People with AS have normal to very high intelligence and have good verbal skills.
  • Challenges with the use and understanding of language in a social context.
  • Trouble understanding what someone else is thinking and feeling (called theory of mind or perspective taking).
  • Needing to be taught social behavior that is “picked up on” intuitively by others.
  • Difficulty understanding non-verbal cues such as hand movements, facial expressions, and tone of voice.
  • Challenges with organization, initiation, prioritizing, all called executive functioning tasks.
  • Focusing on small details rather than the bigger picture
  • Most people with AS have intense interest areas such as movies, geography, history, math, physics, cars, horses, dogs or reptiles. These interest areas change every 3 months to several years
  • Friendships are usually formed through mutual interest areas or activities.
  • Most people with AS view the world in black and white with difficulty compromising or seeing the gray areas.
  • Most individuals with AS describe themselves as feeling different, like aliens in our world.
  • Anxiety and/or depression are major components for many people with AS and may affect their ability to function.
  • Some individuals with AS have extreme and debilitating hyper- or hypo-sensitivity to light, noise, touch, taste, or smell. The environment can have a profound impact on their ability to function.

Early Signs and Symptoms of Multiple Sclerosis

Multiple Sclerosis early signs, symptoms can be in such a mild form as not to be initially detectable.

MS early symptoms and signs appear at the onset of the disease, usually between the ages of 20 and 40. MS early symptoms and signs vary in duration and severity from one individual to the other and at different times in the same individual.

The most recurrent are:

  • walking difficulties
  • the sensation of having a weak or numb limb
  • cold or tingling feet
  • facial pain (Neuralgia)
  • blurred vision

Less common MS early symptoms include:

  • lack of coordination
  • cognitive difficulties
  • slurred speech
  • sudden onset of paralysis

As the disease progresses other symptoms can appear.

MS Pain
MS pain is the type of pain that affects the central nervous system and pain syndromes are common amongst MS patients. Almost 50% of MS patients suffer s from chronic pain. There are several types of MS pain. The main types are:

  • Neuralgia, which is a stabbing pain in the face; it is usually treated with anticonvulsants.
  • Dysesthesias, which is a burning, aching body pain; it is usually treated with anticonvulsants and sometimes with antidepressants which act on the nervous central system.
  • Lhermitte sign, which is a brief, electric shock like sensation that runs down the spine and is caused by bending the neck forward or backward. It is controlled by means of a soft collar.
  • A chronic sensation of ‘pins and needles’, which is treated similarly to acute Dysesthesias.
  • Muscle spasm and cramps, which are treated with anti-inflammatory drugs.
  • Back and skeleton pains, which are treated with heat, massage and physical therapy.

Putting Amputees Back in the Driver’s Seat

For some people, an automobile is a necessity not a luxury.

To have a full life in America requires mobility -not just the ability to walk or run, but the ability to travel greater distances with more convenience and flexibility than public transportation provides.

For many lower-limb amputees, however, the lack of feet makes driving impossible in a conventionally equipped vehicle. Hand controls along with left foot gas pedals provide the solution. They make it possible for lower-limb amputees and people with other disabilities to enjoy the prosperity and independence that comes with vehicle ownership and use.

Different types of hand controls
Basic hand controls usually consist of a lever attached to a bracket and mounted under the steering column on cars equipped with automatic transmissions. The lever is moved to operate throttle and brakes. Usually the left hand operates the control, allowing the right hand to steer and operate the vehicle’s accessories. The three most common types of hand controls are push/rock, push/twist, right angle pull, and push/pull.

The push rock and push twist hand control works by twisting the handle to apply the gas and pushing it to apply the brakes. The right angle pull hand control works by moving the lever down towards the driver’s lap for acceleration. To apply the brakes, the driver pushes the handle forward towards the front of the car. The push/pull hand control works by pulling on the handle to apply the gas, and pushing for the brakes. Most hand controls, except for a very few, apply the brakes by pushing.

Most hand controls are hand-powered, using linkages or cables to operate the gas and brakes. Some models are power-assisted to make it easier on the hand and arm. Cars are designed for the driver’s foot to operate the gas and brake, so the force required to operate the hand control can be tiring to the hand during long drives. Power-assist options for hand controls range from very complex devices such as an electric joystick, to relatively simple ones that use vacuum power like power brakes. Most hand controls are dual-action devices that permit the simultaneous application of throttle and brake. Dual-action controls are helpful when the car is stopped on a steep hill or when making tight maneuvers on steep grades. The throttle can be applied a little before releasing the brake to prevent the car from coasting backward before moving forward. While most users prefer dual-action, some prefer single-action units because they eliminate the chance of accidentally applying the throttle during braking.

Which is best for you?
The best choice of hand controls for a person depends on a number of factors, such as the car’s layout, expected driving conditions, and the driver’s size, disability, and preference.

Push/twist
Push/twist hand controls are a good choice if either a large driver, a small car, or both, limit space. Economical use of space is achieved because the lever only needs to be moved to apply the brake. Throttle control is achieved by twisting the grip in the same manner as operating a motorcycle.

Push/twist controls provide a precise, sporty feel. By necessity, push/twist hand controls are often power-assisted. Without power-assistance, the twisting motion tends to feel stiff, and the hand tires. With a good quality power-assisted twist control, very little effort is required to maintain a throttle setting; simply resting the hand on the handle should provide enough force. This results in less fatigue on long drives.

Push/twist controls are good in tight turns and on rough roads. Throttle surges, which can be experienced with a push/pull or right angle pull device, as the driver and his or her arm bumps, sways, leans, or lurches going through curves and over bumps tend not to occur with a push/twist. Most push/twist controls are dual-action units.

These controls are not recommended for people with grip problems or those with amputated fingers or hands. Good left-hand dexterity is required for safe driving with push/ twist controls.

Right angle pull
Right angle pull controls are the most widely used form of hand control. They are relatively inexpensive and, usually, easy to install and adjust. Operation is simple and intuitive for these strictly mechanical units.

Space, however, can be a problem. Throttle application requires that the lever be moved down toward the driver’s lap. If the driver is large or the car is small, a push/twist or even a push/pull control may be more suitable. Because the lever is connected to the gas pedal with mechanical linkages, the underside of the dashboard will often require trimming.

For those missing fingers, hands, or with reduced grip strength, various handles, wrist straps, grips, etc., can be adapted for the right angle pull control. Specialized handles can be configured for use with a prosthesis. Right angle pull controls are usually dual-action, but also can be single-action.

Push/pull
Push/pull hand controls are by definition single-action. Since the lever is pulled for gas and pushed for brakes, the gas and brakes can never be operated at the same time.

This is the easiest hand control to learn to use. Senior citizens like the push/pull because there is no confusion when learning, after using the foot pedals all their lives. Power-assisted and non-power-assisted models are available. The driver’s hand can rest directly on the lever without causing the throttle to surge.

As with the right angle pull control, different handles can be adapted to the driver to permit safe and easy operation. Power-assisted push/pull hand controls equipped with handle adaptations are recommended for people with limited arm strength and poor manual dexterity.

Some other factors to consider
When shopping for hand controls, aesthetics is also a factor to consider. Car owners can be surprised to find that a section of the dashboard was cut away during the installation process. Most hand controls are mounted under the dash with a support extending into the driver space under the steering column where the lever is connected. A panel under the dashboard is removed during installation. If the hand control’s design and the dashboard layout permit, the panel can be returned allowing the mounting bracket to be hidden. Sometimes, however, the hand control’s hardware protrudes into the passenger space, and the panel cannot be reinstalled without cutting a window in it. Each installation varies with the model of automobile and the particular hand-control unit. Check with your dealer about what you can expect to see when you get your car back.

Many of us share cars with other family members. It is important that the pedals can still be used with the hand control installed and that there are as few impediments to using them as possible. Most good controls provide room for a pedal-pushing driver. Ask the installer what to expect.

Driving should be fun. Poorly designed hand controls, or a badly performed installation, can cause the driver to be distracted or preoccupied with the control, lead to frustration, and reduce safety. Good hand controls, professionally installed, will allow enjoyable, safe driving.

Installation
No matter what type of hand controls you use, you are making a significant modification to your vehicle. It is, therefore, important to have a trained and qualified person perform the installation.

The installer should cut a minimum amount of the dashboard. The handle should be located in a comfortable position so that the driver can hold on to the hand control and hook a thumb over the steering wheel. This position helps to stabilize the steering wheel and the throttle. The whole assembly should feel solid and sturdy. If the installation is done properly using a high-quality control, driving will be easy and fun.

Everyone is different, and each person is a special case. If you are uncertain about your condition and your abilities, consult a Certified Driving Rehabilitation Specialist (CDRS). A CDRS knows about different disabilities and can advise you about the best solution to your driving needs. Contact a CDRS through your rehabilitation facility or through your local amputee support group.

Whether you are a first-time buyer or already drive with hand controls, it is good to know what is out there and what to look for. High-quality hand controls are available, as are skilled mobility technicians who understand the quality and safety issues involved with their installation.

Spend a few extra dollars to purchase a high-quality product and have it professionally installed. You already have made a significant investment in your vehicle. A quality set of hand controls will surely enhance your driving experience and, above all, your safety.

National Congenital Cytomegalovirus Awareness Month

Cytomegalovirus (CMV) is a common virus that infects people of all ages and is usually harmless to people with a healthy immune system. Most people have been exposed to CMV at some point in their lifetime without realizing it. It is estimated that 50-80% of adults in the United States have been infected with CMV by the time they reach 40 years old. Most infections with CMV are “silent” or asymptomatic, meaning most people who are infected with CMV have no signs or symptoms. Once CMV is in a person’s body, it stays there for life. no signs or symptoms occurs when a pregnant woman is exposed to CMV and the CMV passes from the pregnant woman to her unborn child, causing birth defects and developmental disabilities.

Acquired CMV infection is when a person is infected with CMV after birth, during childhood or adulthood.

Acquired CMV
Most healthy people with an acquired CMV infection will generally have few, if any, symptoms or complications from the infection. Because infections among healthy persons are common and typically asymptomatic, efforts to prevent transmission among healthy children and adults are not necessary.

At-Risk Populations
CMV can cause serious problems for people with weakened immune systems (immunocompromised) due to organ transplants, HIV/AIDS infection, chemotherapy, and medications such as glucocorticoids, cytostatics, antibodies, drugs acting on immunophilins, as well as other drugs.

In children and adults with organ transplants, CMV infections are linked with rejection or malfunction of the transplant.

In immunocompromised people, CMV can attack specific organs. Types and symptoms of CMV infections include, but are not exclusive/limited to:

  • Esophagus (CMV esophagitis)
  • Stomach or intestines (CMV gastroenteritis) – Diarrhea, swallowing difficulties or pain, and ulcerations with bleeding
  • Eye (CMV retinitis) – Blindness, floaters in the eye, and visual impairment
  • Lung (CMV pneumonia) – Pneumonia with impaired oxygen uptake (hypoxia)
  • Brain – Coma, encephalitis with behavioral changes, and seizures

Myasthenia Gravis Awareness

Myasthenia Gravis (pronounced My-as-theen-ee-a Grav-us) comes from the Greek and Latin words meaning “grave muscular weakness.” The most common form of MG is a chronic autoimmune neuromuscular disorder that is characterized by fluctuating weakness of the voluntary muscle groups. The prevalence of MG in the United States is estimated to be about 20/100,000 population. However, MG is probably under diagnosed and the prevalence may be higher. Myasthenia Gravis occurs in all races, both genders, and at any age. MG is not thought to be directly inherited nor is it contagious. It does occasionally occur in more than one member of the same family.

The voluntary muscles of the entire body are controlled by nerve impulses that arise in the brain. These nerve impulses travel down the nerves to the place where the nerves meet the muscle fibers. Nerve fibers do not actually connect with muscle fibers. There is a space between the nerve ending and muscle fiber; this space is called the neuromuscular junction.

When the nerve impulse originating in the brain arrives at the nerve ending, it releases a chemical called acetylcholine. Acetylcholine travels across the space to the muscle fiber side of the neuromuscular junction where it attaches to many receptor sites. The muscle contracts when enough of the receptor sites have been activated by the acetylcholine. In MG, there can be as much as an 80% reduction in the number of these receptor sites. The reduction in the number of receptor sites is caused by an antibody that destroys or blocks the receptor site.

Antibodies are proteins that play an important role in the immune system. They are normally directed at foreign proteins called antigens that attack the body. Such foreign proteins include bacteria and viruses. Antibodies help the body to protect itself from these foreign proteins. For reasons not well understood, the immune system of the person with MG makes antibodies against the receptor sites of the neuromuscular junction. Abnormal antibodies can be measured in the blood of many people with MG. The antibodies destroy the receptor sites more rapidly than the body can replace them. Muscle weakness occurs when acetylcholine cannot activate enough receptor sites at the neuromuscular junction.

This Information and more can be found at The Myasthenia Gravis Foundation of America’s website

Aphasia Awareness

Aphasia is a disorder stemming from damage to the language portion of the brain, usually the left side. Aphasia is a communication disorder that interferes with the ability to process, understand or speak language. There are varying degrees of Aphasia from mild to severe. Aphasia can also cause a difficulty in reading or writing. Aphasia can occur from strokes, head injuries and from brain tumors. It is more common in adults but can also affect children.

Some people with aphasia may understand communication from others while not being able to speak themselves. Others with aphasia may not be able to speak or listen to others effectively. Aphasia usually does not affect thinking skills, only those parts of the brain required for communication.

 

Post-Traumatic Stress Disorder Awareness

In order to bring greater awareness to the issue of Post-Traumatic Stress Disorder (PTSD), the United States Senate designated June 27th as National PTSD Awareness Day. In addition, June has been designated as PTSD Awareness Month by the National Center for PTSD (NCPTSD).

PTSD is an anxiety disorder resulting from exposure to a single traumatic event or multiple traumatic events, such as sexual or physical assault, natural or man-made disaster, and war-related combat stress. Symptoms of PTSD include persistent intrusive thoughts and distressing dreams about the traumatic event, triggered emotional responses to reminders of the trauma, efforts to avoid thinking or talking about the trauma, and persistent hyper-vigilance for cues that  indicate additional danger or trauma re-occurring.

  • An estimated 70 percent of adults in the United States have experienced a traumatic event at least once in their lives and up to 20 percent of these people go on to develop posttraumatic stress disorder, or PTSD.
  • An estimated 5 percent of Americans—more than 13 million people—have PTSD at any given time.
  • Approximately 8 percent of all adults—1 of 13 people in this country—will develop PTSD during their lifetime.
  • An estimated 1 out of 10 women will get PTSD at some time in their lives. Women are about twice as likely as men to develop PTSD.

ALS

ALS

Arthritis Awareness

Arthritis is very common but is not well understood. Actually, “arthritis” is not a single disease; it is an informal way of referring to joint pain or joint disease. There are more than 100 different types of arthritis and related conditions. People of all ages, sexes and races can and do have arthritis, and it is the leading cause of disability in America. Nearly 53 million adults and 300,000 children have some type of arthritis. It is most common among women and occurs more frequently as people get older.

Common arthritis joint symptoms include swelling, pain, stiffness and decreased range of motion. Symptoms may come and go. They can be mild, moderate or severe. They may stay about the same for years, but may progress or get worse over time. Severe arthritis can result in chronic pain, inability to do daily activities and make it difficult to walk or climb stairs. Arthritis can cause permanent joint changes. These changes may be visible, such as knobby finger joints, but often the damage can only be seen on X-ray. Some types of arthritis also affect the heart, eyes, lungs, kidneys and skin as well as the joints.

There are different types of arthritis:

Degenerative Arthritis
Osteoarthritis is the most common type of arthritis. When the cartilage – the slick, cushioning surface on the ends of bones – wears away, bone rubs against bone, causing pain, swelling and stiffness. Over time, joints can lose strength and pain may become chronic. Risk factors include excess weight, family history, age and previous injury (an anterior cruciate ligament, or ACL, tear, for example).

When the joint symptoms of osteoarthritis are mild or moderate, they can be managed by:

  • balancing activity with rest
  • using hot and cold therapies
  • regular physical activity
  • maintaining a healthy weight
  • strengthening the muscles around the joint for added support
  • using assistive devices
  • taking over-the-counter (OTC) pain relievers or anti-inflammatory medicines
  • avoiding excessive repetitive movements

If joint symptoms are severe, causing limited mobility and affecting quality of life, some of the above management strategies may be helpful, but joint replacement may be necessary.

Osteoarthritis can prevented by staying active, maintaining a healthy weight, and avoiding injury and repetitive movements.

Inflammatory Arthritis
A healthy immune system is protective. It generates internal inflammation to get rid of infection and prevent disease. But the immune system can go awry, mistakenly attacking the joints with uncontrolled inflammation, potentially causing joint erosion and may damage internal organs, eyes and other parts of the body. Rheumatoid arthritis and psoriatic arthritis are examples of inflammatory arthritis. Researchers believe that a combination of genetics and environmental factors can trigger autoimmunity. Smoking is an example of an environmental risk factor that can trigger rheumatoid arthritis in people with certain genes.

With autoimmune and inflammatory types of arthritis, early diagnosis and aggressive treatment is critical. Slowing disease activity can help minimize or even prevent permanent joint damage. Remission is the goal and may be achieved through the use of one or more medications known as disease-modifying antirheumatic drugs (DMARDs). The goal of treatment is to reduce pain, improve function, and prevent further joint damage.

Infectious Arthritis
A bacterium, virus or fungus can enter the joint and trigger inflammation. Examples of organisms that can infect joints are salmonella and shigella (food poisoning or contamination), chlamydia and gonorrhea (sexually transmitted diseases) and hepatitis C (a blood-to-blood infection, often through shared needles or transfusions). In many cases, timely treatment with antibiotics may clear the joint infection, but sometimes the arthritis becomes chronic.

Metabolic Arthritis
Uric acid is formed as the body breaks down purines, a substance found in human cells and in many foods. Some people have high levels of uric acid because they naturally produce more than is needed or the body can’t get rid of the uric acid quickly enough. In some people the uric acid builds up and forms needle-like crystals in the joint, resulting in sudden spikes of extreme joint pain, or a gout attack. Gout can come and go in episodes or, if uric acid levels aren’t reduced, it can become chronic, causing ongoing pain and disability.

Diagnosing Arthritis
Arthritis diagnosis often begins with a primary care physician, who performs a physical exam and may do blood tests and imaging scans to help determine the type of arthritis. An arthritis specialist, or rheumatologist, should be involved if the diagnosis is uncertain or if the arthritis may be inflammatory. Rheumatologists typically manage ongoing treatment for inflammatory arthritis, gout and other complicated cases. Orthopaedic surgeons do joint surgery, including joint replacements. When the arthritis affects other body systems or parts, other specialists, such as ophthalmologists, dermatologists or dentists, may also be included in the health care team.

Huntington’s Disease

Huntington’s disease (HD) is an inherited brain disorder that results in the progressive loss of both mental faculties and physical control. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications.

Everyone has the HD gene but it is those individuals that inherit the expansion of the gene who will develop HD and perhaps pass it onto each of their children.

Presently, there is no cure. Although medications can relieve some symptoms, research has yet to find a means of slowing the deadly progression of HD.

Current estimates are that 1 in every 10,000 Americans has HD and more than 250,000 others are at-risk of having inherited it from a parent. Once thought a rare disease, HD is now considered one of the more common hereditary diseases.

Every person who inherits the expanded HD gene will eventually develop the disease.
Over time, HD affects the individual’s ability to reason, walk and speak

Symptoms Include:

  • Personality changes, mood swings and depression
  • Forgetfulness and impaired judgment
  • Unsteady gait and involuntary movements
  • Slurred speech and difficulty in swallowing

The Scope of HD
Approximately 30,000 Americans have HD, but the devastating effects of the disease touch many more. Within a family, multiple generations may have inherited the disease. Those at-risk may experience tremendous stress from the uncertainty and sense of responsibility. In the community, lack of knowledge about HD may keep friends and neighbors from offering social and emotional support to the family, fostering unnecessary isolation.

The Huntington’s Disease Society of America (HDSA) has a nationwide network that provides support and referrals for individuals with HD and their families.

Genetic Testing for HD
Individuals can be tested for the gene that causes HD. The test may be used to confirm a diagnosis of HD, but may also be used as a predictive test before symptoms arise. Some individuals at-risk for HD feel that it is important to know whether they carry the gene. Others ultimately choose not to be tested. While the actual procedure is simple, the decision to have the test is not. HDSA recommends that persons wishing to undergo presymptomatic testing for HD do so at one of our HDSA Centers of Excellence, or at a testing center with specific training in working with HD. A list of these testing centers is available from HDSA

HD affects both sexes and all races and ethnic groups around the world.
The Decision to test is highly personal and should never be rushed or forced.

Who is At-Risk?
Every child of a parent with HD has a  50/50 chance of inheriting the expanded gene that causes the disease. If the child has not inherited this expanded gene, he or she will never develop the disease and cannot pass it on to their children.

Genetic Information Nondiscrimination Act of 2008 (GINA)
The Genetic Information Nondiscrimination Act (GINA) protects people from discrimination by health insurers and employers on the basis of their DNA information. This federal law also enables individuals to take part in research studies without fear that their DNA information might be used against them by health insurers or in the workplace.

However, GINA protections do not extend to long term care, disability or life insurance policies. Anyone contemplating testing should first consider adding one or more of these types of policies before starting the testing process.

Advocacy
HDSA advocacy works to advance legislation and policy to improve the lives of HD families by raising awareness about HD in the U.S. Congress, by promoting legislation, policy and regulations that would help individuals in the HD community, by educating Federal agencies about HD, and by partnering and collaborating with national organizations that have common goals. Learn more at www.hdsa.org/advocacy.

Join us in the fight against HD
YOU can help HDSA in our efforts to end HD and provide resources for those who must face this disease daily. Both funds and volunteers are needed. Contact the HDSA National Office to find out how YOU can help.

HD does not skip generations; if one does not inherit the expanded gene, one cannot pass it on

An End To HD?
In 1993, researchers identified the gene that causes HD. Since then, research has moved quickly towards developing treatments and, ultimately, a cure. HDSA supports the goals of clinical and basic research at leading research facilities globally.

Clinical and observational trials are an important way you can help to sustain the momentum of HD research and move potential new therapies through the approval process. Visit the Research section of the HDSA website for more information and to find a trial in your area. There are opportunities for all HD family members – gene positive, at-risk, gene negative, and caregivers – to participate.

About HDSA
The Huntington’s Disease Society of America (HDSA) is the largest 501(C)(3) non-profit volunteer organization dedicated to improving the lives of everyone affected by Huntington’s disease. Founded in 1968 by Marjorie Guthrie, wife of folk legend Woody Guthrie who lost his battle with HD, the Society works tirelessly to provide family services, education, advocacy and research to provide help for today, hope for tomorrow to the more than 30,000 people diagnosed with HD and the 250,000 at-risk in the United States.

Where to find help
You are not alone in facing HD. HDSA has developed a nationwide network that includes Chapters and Affiliates, HDSA Centers of Excellence, Support Groups, and Social Workers that are ready to assist you with referrals and resources in your area. To learn more, please visit www.hdsa.org or call 888-HDSA-506.

Research worldwide is working to unlock the mystery of HD and find a cure

Lupus Awareness Month

Lupus is a chronic, autoimmune disease that can damage any part of the body (skin, joints, and/or organs inside the body). Chronic means that the signs and symptoms tend to last longer than six weeks and often for many years.

In lupus, something goes wrong with your immune system, which is the part of the body that fights off viruses, bacteria, and germs (“foreign invaders,” like the flu). Normally our immune system produces proteins called antibodies that protect the body from these invaders. Autoimmune means your immune system cannot tell the difference between these foreign invaders and your body’s healthy tissues (“auto” means “self”) and creates autoantibodies that attack and destroy healthy tissue. These autoantibodies cause inflammation, pain, and damage in various parts of the body.

Lupus is also a disease of flares (the symptoms worsen and you feel ill) and remissions (the symptoms improve and you feel better).

These are some additional facts about lupus that you should know:

  • Lupus is not contagious, not even through sexual contact. You cannot “catch” lupus from someone or “give” lupus to someone.
  • Lupus is not like or related to cancer. Cancer is a condition of malignant, abnormal tissues that grow rapidly and spread into surrounding tissues. Lupus is an autoimmune disease, as described above.
  • Lupus is not like or related to HIV (Human Immune Deficiency Virus) or AIDS (Acquired Immune Deficiency Syndrome). In HIV or AIDS the immune system is underactive; in lupus, the immune system is overactive.
  • Lupus can range from mild to life-threatening and should always be treated by a doctor. With good medical care, most people with lupus can lead a full life.
  • Our research estimates that at least 1.5 million Americans have lupus. The actual number may be higher; however, there have been no large-scale studies to show the actual number of people in the U.S. living with lupus.
  • More than 16,000 new cases of lupus are reported annually across the country.
  • It is believed that 5 million people throughout the world have a form of lupus.
  • Lupus strikes mostly women of childbearing age (15-44). However, men, children, and teenagers develop lupus, too.
  • Women of color are two to three times more likely to develop lupus than Caucasians.
  • People of all races and ethnic groups can develop lupus.

What are the common symptoms of lupus?
Because lupus can affect so many different organs, a wide range of symptoms can occur. These symptoms may come and go, and different symptoms may appear at different times during the course of the disease.

The most common symptoms of lupus, which are the same for females and males, are:

  • Extreme fatigue (tiredness)
  • Headaches
  • Painful or swollen joints
  • Fever
  • Anemia (low numbers of red blood cells or hemoglobin, or low total blood volume)
  • Swelling (edema) in feet, legs, hands, and/or around eyes
  • Pain in chest on deep breathing (pleurisy)
  • Butterfly-shaped rash across cheeks and nose
  • Sun- or light-sensitivity (photosensitivity)
  • Hair loss
  • Abnormal blood clotting
  • Fingers turning white and/or blue when cold (Raynaud’s phenomenon)
  • Mouth or nose ulcers

Many of these symptoms occur in other illnesses. In fact, lupus is sometimes called “the great imitator” because its symptoms are often like the symptoms of rheumatoid arthritis, blood disorders, fibromyalgia, diabetes, thyroid problems, Lyme disease, and a number of heart, lung, muscle, and bone diseases.

National Stroke Awareness Month

What Is A Stroke?
A stroke is a “brain attack”. It can happen to anyone at any time. It occurs when blood flow to an area of brain is cut off. When this happens, brain cells are deprived of oxygen and begin to die. When brain cells die during a stroke, abilities controlled by that area of the brain such as memory and muscle control are lost.

How a person is affected by their stroke depends on where the stroke occurs in the brain and how much the brain is damaged. For example, someone who had a small stroke may only have minor problems such as temporary weakness of an arm or leg. People who have larger strokes may be permanently paralyzed on one side of their body or lose their ability to speak. Some people recover completely from strokes, but more than 2/3 of survivors will have some type of disability.

Stroke by the Numbers

  • Each year nearly 800,000 people experience a new or recurrent stroke.
  • A stroke happens every 40 seconds.
  • Stroke is the fifth leading cause of death in the U.S.
  • Every 4 minutes someone dies from stroke.
  • Up to 80 percent of strokes can be prevented.
  • Stroke is the leading cause of adult disability in the U.S.

Complex Regional Pain Syndrome (CRPS)

Signs and symptoms of complex regional pain syndrome include:

  • Continuous burning or throbbing pain, usually in your arm, leg, hand or foot
  • Sensitivity to touch or cold
  • Swelling of the painful area
  • Changes in skin temperature — at times your skin may be sweaty; at other times it may be cold
  • Changes in skin color, which can range from white and mottled to red or blue
  • Changes in skin texture, which may become tender, thin or shiny in the affected area
  • Changes in hair and nail growth
  • Joint stiffness, swelling and damage
  • Muscle spasms, weakness and loss (atrophy)
  • Decreased ability to move the affected body part

Symptoms may change over time and vary from person to person. Most commonly, pain, swelling, redness, noticeable changes in temperature and hypersensitivity (particularly to cold and touch) occur first.

Over time, the affected limb can become cold and pale and undergo skin and nail changes as well as muscle spasms and tightening. Once these changes occur, the condition is often irreversible.

Complex regional pain syndrome occasionally may spread from its source to elsewhere in your body, such as the opposite limb. The pain may be worsened by emotional stress.

In some people, signs and symptoms of complex regional pain syndrome go away on their own. In others, signs and symptoms may persist for months to years. Treatment is likely to be most effective when started early in the course of the illness.

Mental Health Awareness Month: Know the Warning Signs

Mental Health Awareness Month - Know the Warning Signs

Trying to tell the difference between what expected behaviors are and what might be the signs of a mental illness isn’t always easy. There’s no easy test that can let someone know if there is mental illness or if actions and thoughts might be typical behaviors of a person or the result of a physical illness.

Each illness has its own set of symptoms but some common signs of mental illness in adults and adolescents can include the following.

  • Excessive worrying or fear
  • Feeling excessively sad or low
  • Confused thinking or problems concentrating and learning
  • Extreme mood changes, including uncontrollable “highs” or feelings of euphoria
  • Prolonged or strong feelings of irritability or anger
  • Avoiding friends and social activities
  • Difficulties understanding or relating to other people
  • Changes in sleeping habits or feeling tired and low energy
  • Changes in eating habits such as increased hunger or lack of appetite
  • Changes in sex drive
  • Difficulty perceiving reality (delusions or hallucinations, in which a person experiences and senses things that don’t exist in objective reality)
  • Inability to perceive changes in one’s own feelings, behavior or personality (”lack of insight” or anosognosia)
  • Abuse of substances like alcohol or drugs
  • Multiple physical ailments without obvious causes (such as headaches, stomach aches, vague and ongoing “aches and pains”)
  • Thinking about suicide
  • Inability to carry out daily activities or handle daily problems and stress
  • An intense fear of weight gain or concern with appearance (mostly in adolescents)

Mental health conditions can also begin to develop in young children. Because they’re still learning how to identify and talk about thoughts and emotions, their most obvious symptoms are behavioral. Symptoms in children may include:

  • Changes in school performance
  • Excessive worry or anxiety, for instance fighting to avoid bed or school
  • Hyperactive behavior
  • Frequent nightmares
  • Frequent disobedience or aggression
  • Frequent temper tantrums

ALS Awareness

ALS (amyotrophic lateral sclerosis) is a devastating progressive neurodegenerative disease which destroys the ability to walk, speak, eat and breathe. ALS was first recognized as a disease in 1869, by Jean-Martin Charcot, a French Neurologist. However, ALS is sometimes referred as Lou Gehrig’s disease; named after Lou Gehrig, a famous baseball first basemen, whose career was stopped in 1939 when he developed ALS at the age of 36. At that time, ALS was given widespread public attention due to the high profile of this baseball player.

The aim of ALS awareness month is to raise awareness about ALS, gather support for those affected by this condition and to encourage funding and research into a treatment or cure.

Raising Awareness About The Effects Of ALS
ALS affects the body by attacking motor neurons (nerve cells) of the brain and spinal cord. Motor neurons are cells which process and transmit signals which help to control muscles. Destruction of motor neuron cells leads to symptoms related to loss of muscle control. Typical symptoms of ALS include inability to walk, speak, eat and even breathe.

As ALS is a progressive disease, more motor neurons are destroyed overtime worsening the symptoms. Difficulty breathing and swallowing are later symptoms; paralysis can also develop. After the onset of this disease, fatality usually occurs within 2-5 years.

Healthy People In Their Prime Can Also Get ALS
ALS typically affects people over the age of 40, including those who were previously enjoyed excellent health in the prime of their lives. Whilst ALS affects a minority of the population (in the US about 30,000 people have this condition), ALS is indiscriminate in the types of people who will be affected by it. Famous people who had ALS include NBA player George Yardley, Senator Jacob Javits and former vice president of the US, Henry Wallace.

ALS can be devastating to both the person and to their friends and family. At present there is no known treatment or cure for ALS. If a cure or greater understanding of ALS is achieved, then it is likely that this will benefit research into related conditions like Parkinson’s, Huntington’s and Alzheimer’s disease. There could be a similar underlying neurodegenerative condition in each of them.

Supporting ALS Awareness Month
Several organizations which represent people with neurodegenerative diseases back ALS Awareness Month to support those with this condition and to raise funds for research into a cure. These include the Muscular Dystrophy Association and the ALS Association who host seminars and other activities throughout the United States, during May.

To coincide with this awareness month, the ALS Association have in more recent years run a campaign, ‘ALS Across America’. Established in 2008, ‘ALS Across America’ aims to raise awareness about ALS by sharing with the media and public the experience people throughout the United States have with ALS. When we become aware of the plight of people with this serious disease, we are more likely to support them and the related organizations which work to find a cure.

A person can get involved in ALS awareness month by:

  • donating money to help fight this disease
  • becoming inspired after reading and listening to stories about people with this condition
  • advocating for people with ALS
  • staying connected with ALS News and Updates
  • getting involved in the 31 ways to fight ALS in 31 days

Autism Spectrum Disorders

Autism spectrum disorders (ASDs) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges.

ASDs are “spectrum disorders” which means ASDs affect each person in different ways, and can range from very mild to severe. People with ASDs share some similar symptoms, such as problems with social interaction. But there are differences in when the symptoms start, how severe they are, and the exact nature of the symptoms.


Types of ASDs
There are three different types of ASDs:

  • Autistic Disorder (also called “classic” autism)
    This is what most people think of when hearing the word “autism.” People with autistic disorder usually have significant language delays, social and communication challenges, and unusual behaviors and interests. Many people with autistic disorder also have intellectual disability.
  • Asperger Syndrome
    People with Asperger syndrome usually have some milder symptoms of autistic disorder. They might have social challenges and unusual behaviors and interests. However, they typically do not have problems with language or intellectual disability.
  • Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS; also called “atypical autism”)
    People who meet some of the criteria for autistic disorder or Asperger syndrome, but not all, may be diagnosed with PDD-NOS. People with PDD-NOS usually have fewer and milder symptoms than those with autistic disorder. The symptoms might cause only social and communication challenges.


Signs and Symptoms
ASDs begin before the age of 3 and last throughout a person’s life, although symptoms may improve over time. Some children with an ASD show hints of future problems within the first few months of life. In others, symptoms might not show up until 24 months or later. Some children with an ASD seem to develop normally until around 18 to 24 months of age and then they stop gaining new skills, or they lose the skills they once had.

A person with an ASD might:

  • Not respond to their name by 12 months
  • Not point at objects to show interest (point at an airplane flying over) by 14 months
  • Not play “pretend” games (pretend to “feed” a doll) by 18 months
  • Avoid eye contact and want to be alone
  • Have trouble understanding other people’s feelings or talking about their own feelings
  • Have delayed speech and language skills
  • Repeat words or phrases over and over (echolalia)
  • Give unrelated answers to questions
  • Get upset by minor changes
  • Have obsessive interests
  • Flap their hands, rock their body, or spin in circles
  • Have unusual reactions to the way things sound, smell, taste, look, or feel


Diagnosis
Diagnosing ASDs can be difficult since there is no medical test, like a blood test, to diagnose the disorders. Doctors look at the child’s behavior and development to make a diagnosis.

ASDs can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable. However, many children do not receive a final diagnosis until much older. This delay means that children with an ASD might not get the help they need.


Treatment
There is currently no cure for ASDs. However, research shows that early intervention treatment services can greatly improve a child’s development. Early intervention services help children from birth to 3 years old (36 months) learn important skills. Services can include therapy to help the child talk, walk, and interact with others. Therefore, it is important to talk to your child’s doctor as soon as possible if you think your child has an ASD or other developmental problem.

Even if your child has not been diagnosed with an ASD, he or she may be eligible for early intervention treatment services. The Individuals with Disabilities Education Act (IDEA) says that children under the age of 3 years (36 months) who are at risk of having developmental delays may be eligible for services. These services are provided through an early intervention system in your state. Through this system, you can ask for an evaluation.

In addition, treatment for particular symptoms, such as speech therapy for language delays, often does not need to wait for a formal ASD diagnosis.

Learn about types of treatments »


Causes and Risk Factors
We do not know all of the causes of ASDs. However, we have learned that there are likely many causes for multiple types of ASDs. There may be many different factors that make a child more likely to have an ASD, including environmental, biologic and genetic factors.

  • Most scientists agree that genes are one of the risk factors that can make a person more likely to develop an ASD.
  • Children who have a sibling or parent with an ASD are at a higher risk of also having an ASD.
  • ASDs tend to occur more often in people who have certain other medical conditions. About 10% of children with an ASD have an identifiable genetic disorder, such as Fragile X syndrome, tuberous sclerosis, Down syndrome and other chromosomal disorders.
  • Some harmful drugs taken during pregnancy have been linked with a higher risk of ASDs, for example, the prescription drugs thalidomide and valproic acid.
  • We know that the once common belief that poor parenting practices cause ASDs is not true.
  • There is some evidence that the critical period for developing ASDs occurs before birth. However, concerns about vaccines and infections have led researchers to consider risk factors before and after birth.

ASDs are an urgent public health concern. Just like the many families affected in some way by ASDs, CDC wants to find out what causes the disorder. Understanding the risk factors that make a person more likely to develop an ASD will help us learn more about the causes. We are currently working on one of the largest U.S. studies to date, called Study to Explore Early Development (SEED). SEED is looking at many possible risk factors for ASDs, including genetic, environmental, pregnancy, and behavioral factors.


Who is Affected
ASDs occur in all racial, ethnic, and socioeconomic groups, but are almost five times more common among boys than among girls. CDC estimates that about 1 in 88 children has been identified with an autism spectrum disorder (ASD).

More people than ever before are being diagnosed with an ASD. It is unclear exactly how much of this increase is due to a broader definition of ASDs and better efforts in diagnosis. However, a true increase in the number of people with an ASD cannot be ruled out. We believe the increase in ASD diagnosis is likely due to a combination of these factors.

Within the past decade, CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network has been estimating the number of people with an ASD in the U.S. We have learned a lot about how many children in the U.S. have an ASD. It will be important to use the same methods to track how the number of people with an ASD is changing over time in order to learn more about the disorders.


If You’re Concerned
If you think your child might have an ASD or you think there could be a problem with the way your child plays, learns, speaks, or acts,contact your child’s doctor, and share your concerns.

If you or the doctor is still concerned, ask the doctor for a referral to a specialist who can do a more in-depth evaluation of your child. Specialists who can do a more in-depth evaluation and make a diagnosis include:

  • Developmental Pediatricians (doctors who have special training in child development and children with special needs)
  • Child Neurologists (doctors who work on the brain, spine, and nerves)
  • Child Psychologists or Psychiatrists (doctors who know about the human mind)

At the same time, call your state’s public early childhood system to request a free evaluation to find out if your child qualifies for intervention services. This is sometimes called a Child Find evaluation. You do not need to wait for a doctor’s referral or a medical diagnosis to make this call.

Where to call for a free evaluation from the state depends on your child’s age:

  • If your child is not yet 3 years old, contact your local early intervention system.You can find the right contact information for your state by calling the National Dissemination Center for Children with Disabilities (NICHCY) at 1-800-695-0285.Or visit the NICHCY website. Once you find your state on this webpage, look for the heading “Programs for Infants and Toddlers with Disabilities: Ages Birth through 3″.
  • If your child is 3 years old or older, contact your local public school system.Even if your child is not yet old enough for kindergarten or enrolled in a public school, call your local elementary school or board of education and ask to speak with someone who can help you have your child evaluated.If you’re not sure who to contact, call the National Dissemination Center for Children with Disabilities at 1.800.695.0285 or visit the NICHCY website. Once you find your state on this webpage, look for the heading “Programs for Children with Disabilities: Ages 3 through 5″.

Research shows that early intervention services can greatly improve a child’s development. In order to make sure your child reaches his or her full potential, it is very important to get help for an ASD as soon as possible.

Leigh Syndrome

What is Leigh syndrome?
Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of individuals develop symptoms in adulthood or have symptoms that worsen more slowly.

The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult.

Several other symptoms may occur in people with Leigh syndrome. Many affected individuals develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common in people with Leigh syndrome, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, cerebrospinal fluid, or urine of people with Leigh syndrome.

The signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain and the brainstem (the part of the brain that is connected to the spinal cord). These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which controls functions such as swallowing, breathing, hearing, and seeing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information back to the brain.

How common is Leigh syndrome?
Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada.

It’s Time To Rust Proof Your Vehicle!

Spring has sprung
The snow is gone
& Rain has come
It’s time to rust proof your vehicle!

Owning any type of vehicle means that you have to commit to regular service and maintenance to keep it in good condition. Owning a wheelchair van and adaptive equipment is no different – you still need regular service to keep everything operating the way it should. However, it comes with some additional caveats – you can’t just go to any service center and ensure that you’re maintaining your wheelchair van or mobility equipment correctly.

Here at our Mobility Center, not only do we understand the importance of maintaining your mobility vehicle and adaptive equipment, but we take the needed steps to ensure that everything is always in top condition. No other mobility dealer (that we know of) offers the level of maintenance offered by us.

Rust Maintenance
Vehicles today are subject to rust and corrosion due to moisture, humidity, tons of road salt and other airborne pollutants that can cause rapid deterioration of your wheelchair van. If neglected, the damages can make your mobility investment of little value.  The thousands of yearly miles, environments and exposure to the elements of larger vehicles means they are a lot more likely to suffer from the effects of corrosion. Correct rust proofing on a regular basis can ensure that your vehicle does not suffer from corrosion related vehicle downtime and keep your van from falling apart.

** We highly recommend that everyone gets their wheelchair vans rust proofed at least twice a year. Once in Spring and again in the Fall. **

If you consider that new vehicles undergo thousands of spot welds and numerous bends and folds during assembly; this process damages the automobile coating systems, exposing these panels to corrosion. Besides body-panel damage, certain mechanical parts are also at risk – suspension mounts, hood-locking mechanisms, door hinges, brake cables – which are all susceptible to the damaging effects of rust on your wheelchair van.

To protect your vehicle against corrosion our rust proofing formula does more than just cover the metal required. A rust proofing product must be applied as a high-pressured spray, ensuring protection to your vehicle’s most critical areas by penetrating, displacing existing moisture and protecting the many vulnerable crevices of your automobile.

Benefits of rust treatment
Prevention is better than a cure. There are a number of products that can offer prevention against rust. Products are available either as oils, waxes, fluids and coatings.  The range is vast. Our rust prevention processes, products, plan and application have been found to be very effective and developed over more than 25 years and still remain affordable.

We are the only mobility dealer in New England to offer this service.
Our rust proofing processes is ever evolving and has been for more than 25 years.

Duchenne muscular dystrophy (DMD)

What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy.

DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls.

What are the symptoms of DMD?
Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves often are enlarged. By the early teens, the heart and respiratory muscles also are affected.

  • The heart
    Lack of dystrophin can weaken the muscle layer in the heart (myocardium), resulting in a condition called cardiomyopathy. Over time, sometimes as early as the teen years, the damage done by DMD to the heart can become life-threatening. The heart should be monitored closely, usually by a pediatric cardiologist.
  • Respiratory function
    Beginning at about 10 years of age, the diaphragm and other muscles that operate the lungs may weaken, making the lungs less effective at moving air in and out. Although the child may not complain of shortness of breath, problems that indicate poor respiratory function include headaches, mental dullness, difficulty concentrating or staying awake, and nightmares. Weakened respiratory muscles make it difficult to cough, leading to increased risk of serious respiratory infection. A simple cold can quickly progress to pneumonia.

April Is National Sarcoidosis Awareness Month

The following information and more can be found on The Foundation For Sarcoidosis Research’s website: www.stopsarcoidosis.org

April Is National Sarcoidosis Awareness Month

Sarcoidosis is an inflammatory disease that can affect almost any organ in the body. It causes heightened immunity, which means that a person’s immune system, which normally protects the body from infection and disease, overreacts, resulting in damage to the body’s own tissues. The classic feature of sarcoidosis is the formation of granulomas, microscopic clumps of inflammatory cells that group together (and look like granules, hence the name). When too many of these clumps form in an organ they can interfere with how that organ functions.

Sarcoidosis is a multi-system disorder.  Symptoms typically depend on which organ the disease affects.  Most often the disease will affect the lungs.

  • General: About one third of patients will experience non-specific symptoms of fever, fatigue, weight loss, night sweats and an overall feeling of malaise (or ill health).
  • Lungs: The lungs are affected in more than 90% of patients with sarcoidosis.  A cough that does not go away, shortness of breath, particularly with exertion and chest pain occur most frequently with the pulmonary form of the disease.
  • Lymph Nodes: Up to 90% of sarcoidosis patients have enlarged lymph nodes. Most often they are in the neck, but those under the chin, in the armpits and in the groin can be affected.  The spleen, which is part of the lymphatic system, can also be affected.
  • Liver: Although between 50% to 80% of patients with sarcoidosis will have granulomas in their liver, most are without symptoms and do not require treatment.
  • Heart: Researchers estimate that cardiac sarcoidosis, affects more than 10 percent of people with sarcoidosis in the United States, and perhaps as mHeart: any as 25 percent.  Sarcoidosis can cause the heart to beat weakly resulting in shortness of breath and swelling in the legs.  It can also cause palpitations (irregular heartbeat).
  • Brain & Nervous System: From 5% to 13% of patients have neurologic disease.  Symptoms can include headaches, visual problems, weakness or numbness of an arm or leg and facial palsy.
  • Skin:  One in four (25%) of patients will have skin involvement.  Painful or red, raised bumps on the legs or arms (called erythema nodosum), discoloration of the nose, cheeks, lips and ears (called lupus pernio) or small brownish and painless skin patches are symptoms of the cutaneous form of the disease.
  • Bones, Joints & Muscles:  Joint pain occurs in about one-third of patients.  Other symptoms include a mass in the muscle, muscle weakness and arthritis in the joints of the ankles, knees, elbows, wrists, hands and feet.
  • Eyes:  Any part of the eye can be affected by sarcoidosis and about 25% of patients have ocular involvement.  Common symptoms include: burning, itching, tearing, pain, red eye, sensitivity to light (photophobia), dryness, seeing black spots (called floaters) and blurred vision.  Chronic uveitis (inflammation of the membranes or uvea of the eye) can lead to glaucoma, cataracts and blindness.
  • Sinuses, Nasal Muscosa (lining) & Larynx:  About 5% of patients will have involvement in the sinuses with symptoms that can include sinusitis, hoarseness or shortness of breath.
  • Other Organs:  Rarely, the gastrointestinal tract, reproductive organs, salivary glands and the kidneys are affected.

 

Autism Awareness Month

Autism Awareness Month

The importance of recognizing Autism throughout the month of April is to help better educate and raise awareness to the public. Autism is a complex mental condition and developmental disability, characterized by difficulties in the way a person communicates and interacts with other people. Autism can be present from birth or form during early childhood, typically within the first three years. Autism is a lifelong developmental disability with no single known cause.

People with autism are also known as having Autism Spectrum Disorder (ASD) both terms are often used interchangeably. People with ASD have a set of symptoms unique to themselves; no two people are the same. ASD affects people in different ways, and can range from very mild to severe. Although some symptoms are similar, such as challenges with social interaction, there are differences in when the symptoms start, how severe they are, and the exact nature of the symptoms.

If you are looking for a way to get involved, donate for just want to learn more information about Autism you can visit the websites of some great organizations such as Autism Speaks, Autism Society and the National Autism Association.

World Autism Awareness Day: Light It Up Blue

Light It Up Blue - World Autosm Awareness Day

Every April 2, Autism Speaks celebrates World Autism Awareness Day with a global autism awareness campaign called Light It Up Blue. It’s easy (and fun!) to be a part of it — you can do anything from wearing blue to lighting your whole office or school up blue.

Add your name to say you’ll be a part of it, and we’ll be in touch with resources and ideas to get your friends involved. Thanks for helping shine a light on autism.

World Autism Awareness Day - Light It Up Blue

What Is Autism?
Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. With the May 2013 publication of the DSM-5 diagnostic manual, all autism disorders were merged into one umbrella diagnosis of ASD. Previously, they were recognized as distinct subtypes, including autistic disorder, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome.

ASD can be associated with intellectual disability, difficulties in motor coordination and attention and physical health issues such as sleep and gastrointestinal disturbances. Some persons with ASD excel in visual skills, music, math and art.

Autism appears to have its roots in very early brain development. However, the most obvious signs of autism and symptoms of autism tend to emerge between 2 and 3 years of age. Autism Speaks continues to fund research on effective methods for earlier diagnosis, as early intervention with proven behavioral therapies can improve outcomes. Increasing autism awareness is a key aspect of this work and one in which our families and volunteers play an invaluable role.

Parkinson’s Awareness

Parkinson's Awareness

Parkinson’s disease is a movement disorder that is chronic and progressive, meaning that symptoms continue and worsen over time.

As many as one million individuals in the US live with Parkinson’s disease. While approximately four percent of people with Parkinson’s are diagnosed before the age of 50, incidence increases with age.

Its major symptoms vary from person to person, but can include tremor, slowness of movements, limb stiffness, and difficulties with gait and balance. The cause of the disease is unknown, and although there is presently no cure, there are treatment options such as medication and surgery to manage the symptoms.

Spring Rust Treatment

Owning any type of vehicle means that you have to commit to regular service and maintenance to keep it in good condition. Owning a wheelchair van and adaptive equipment is no different – you still need regular service to keep everything operating the way it should. However, it comes with some additional caveats – you can’t just go to any service center and ensure that you’re maintaining your wheelchair van or mobility equipment correctly.

Here at our Mobility Center, not only do we understand the importance of maintaining your mobility vehicle and adaptive equipment, but we take the needed steps to ensure that everything is always in top condition. No other mobility dealer offers the level of maintenance offered by us.

Rust Maintenance
Vehicles today are subject to rust and corrosion due to moisture, humidity, tons of road salt and other airborne pollutants that can cause rapid deterioration of your wheelchair van. If neglected, the damages can make your mobility investment of little value.  The thousands of yearly miles, environments and exposure to the elements of larger vehicles means they are a lot more likely to suffer from the effects of corrosion. Correct rust proofing on a regular basis can ensure that your vehicle does not suffer from corrosion related vehicle downtime and keep your van from falling apart.

** We highly recommend that everyone gets their wheelchair accessible vehicles rust proofed at least twice a year. Once in Spring and again in the Fall. **

If you consider that new vehicles undergo thousands of spot welds and numerous bends and folds during assembly; this process damages the automobile coating systems, exposing these panels to corrosion. Besides body-panel damage, certain mechanical parts are also at risk – suspension mounts, hood-locking mechanisms, door hinges, brake cables – which are all susceptible to the damaging effects of rust on your wheelchair van.

To protect your vehicle against corrosion our rust proofing formula does more than just cover the metal required. A rust proofing product must be applied as a high-pressured spray, ensuring protection to your vehicle’s most critical areas by penetrating, displacing existing moisture and protecting the many vulnerable crevices of your automobile.

Benefits of rust treatment
Prevention is better than a cure. There are a number of products that can offer prevention against rust. Products are available either as oils, waxes, fluids and coatings.  The range is vast. Our rust prevention processes, products, plan and application have been found to be very effective and developed over more than 25 years and still remain affordable.

We are the only mobility dealer in New England to offer this service.

Our rust proofing processes is ever evolving and has been for more than 25 years.

Tuberculosis (TB) Awareness

Tuberculosis (TB) may seem like an obscure disease; perhaps you were once tested for it during a pre-employment or school physical. But for people in some countries, tuberculosis infection is a real threat, the symptoms are well known, and the death toll is still too high. With the emergence of resistant strains of TB, currently used medications are becoming less effective, and for some strains, treatment is extremely difficult.

And TB is more common than you may think. About one-third of the world’s population is currently infected with TB, with one new infection occurring every second. Not all infected people are sick with active TB; in fact, 90 percent have “walled off” the bacteria within their lungs and are not ill. But the other 10 percent will develop active, contagious tuberculosis each year, and each person who develops active TB will likely infect at least 10 to 15 other people before s/he is treated.

Tuberculosis Is All About Human Contact
Eradicating the tuberculosis infection in a particular country isn’t a matter of simply providing a clean water supply or non-contaminated food — it’s about setting up an organized system for recognizing the infection, treating it, and reducing transmission from person to person. Tuberculosis is spread by the tiny droplets that become airborne when a person with active TB coughs.

Preventing Tuberculosis Infection
Limiting transmission sounds simple in principle, but it is an elusive goal for many countries. To stop the spread of tuberculosis, people must be treated as soon as they contract it.

The United States has an extremely low incidence of tuberculosis — around 12,000 to 13,000 new diagnoses per year. That’s because the United States has the human resources, an existing healthcare system, and funds needed for controlling the disease. Many countries have none of these things. And those countries, including many in Asia and Africa, are still plagued with high numbers of tuberculosis cases. Effective medications are needed to control tuberculosis and unfortunately some parts of the world either can’t afford or can’t administer them.

Project 22

Project 22

The cost will be $12.50 for civilians and FREE for Veterans.
VETERANS STILL MUST CLICK ON THE LINK AND RESERVE THEIR TICKETS!

Tickets will go fast and this will be a one night only show so make sure you get yours today! Just go to www.clickitevents.com to purchase yours!

For those riding, there will be a link up at Harley-Davidson of Frederick and then will have an after party at Hardtimes Cafe And Cue.

Saturday, May 2
at 7:00pm
MDL Holiday Cinemas official
100 Baughmans Ln, Frederick, Maryland 21702

For more information on this event please visit the Website or Facebook Page
Click here to view the trailers!
If you can’t make it to the event but still want to support the cause you can Donate Here!

ALL PROCEEDS WILL BENEFIT 22 NEEDS A FACE

The making of Project 22
Project 22 was a 22 day, 6,500 mile motorcycle awareness campaign from San Francisco to New York City to raise awareness of the high rate of suicides within the Veteran community. As we traveled across the country, we spoke with many Veterans who had contemplated or attempted suicide and asked them for their stories; what led them to it and what brought them out of it. The responses regarding the challenges were in remarkable unison although the hope they found came in many different forms. We were able to explore the therapeutic potential behind sailing, pottery, education, activism, family, service dogs, painting and more.

We also spoke with leading researchers of Traumatic Brain Injury and Post Traumatic Stress, mental health clinicians and educators, as well as, leading experts in warrior culture and combat stress. Coupled with the insightful and potentially life changing information we captured in interviews, we filmed the motorcycle awareness campaign, including camping, several organized rides and our final ride being escorted into World Trade Center by the Port Authority Police Department. We gathered incredible footage and news coverage in multiple cities, including Pittsburgh and New York.

Project 22 was entirely crowd-funded via an IndieGoGo campaign and private donations. In addition, the crew was offered food, lodging and assistance wherever we rode, helping keep production costs low. Project 22 is fiscally sponsored by From The Heart Productions, a 501(c)3 non-profit organization, while Medicinal Missions applies for independent non-profit status. All donations are tax-deductible and are made payable to From The Heart Productions via the PayPal link on our website or by check to: From The Heart Productions 1455 Mandalay Beach Road Oxnard, CA 93035-2845

From The Heart has been successfully funding films since inception in 1993 under the 501(c)3 Internal Revenue Code of 1954. Also classified as a public charity under section 509 (a) (2) of the Code. Monetary donations to the Fiscal Sponsorship Program qualify as charitable contributions under the U.S. Tax Code for 95 444 5418.

Current Campaign
Statistically, 22 Veterans of the US Military will take their own lives and 22 families will lose loved ones today due to combat-related stresses and injuries. Project 22 follows two combat-wounded Veterans on a mission to find hope. Riding motorcycles from San Francisco to New York, Daniel and Doc speak with Veterans about post-war challenges that lead to suicide and the healing Veterans are finding in alternative forms of therapy such as sailing, pottery, education, service dogs and more.

During the 6,500 mile journey, our riders interview leading researchers, mental health clinicians and educators who specialize in Traumatic Brain Injury and Post Traumatic Stress, as well as a leading expert in Warrior Culture and Combat Stress. Asking hard hitting questions and opening up about their own struggles, Daniel and Doc will stop at nothing to reach tomorrow’s twenty-two.

Mission Statement
To raise awareness of Veteran suicides and to educate on methods to overcome symptoms of Post Traumatic Stress (PTS) and Traumatic Brain Injury (TBI) in order to prevent Veteran suicides and make alternative therapies available to Veterans with PTS and TBI.

Universal design

Universal design

Universal Design makes things safer, easier and more convenient for everyone.
Universal Design involves designing products and spaces so that they can be used by the widest range of people possible. Universal Design evolved from Accessible Design, a design process that addresses the needs of people with disabilities. Universal Design goes further by recognizing that there is a wide spectrum of human abilities. Everyone, even the most able-bodied person, passes through childhood, periods of temporary illness, injury and old age. By designing for this human diversity, we can create things that will be easier for all people to use.

Who Does Universal Design Benefit?
Everyone.
Universal Design takes into account the full range of human diversity, including physical, perceptual and cognitive abilities, as well as different body sizes and shapes. By designing for this diversity, we can create things that are more functional and more user-friendly for everyone. For instance, curb cuts at sidewalks were initially designed for people who use wheelchairs, but they are now also used by pedestrians with strollers or rolling luggage. Curb cuts have added functionality to sidewalks that we can all benefit from.

What can be Universally Designed?
Everything.

  • Universal Design can apply to anything that can be designed, including products like door handles, kitchen utensils and smartphones.
  • Universal Design can be applied to architecture and the built environment, including public and commercial buildings, as well as residential buildings and family homes.
  • Universal Design can also be applied to the community at large through urban planning and public transportation.

Universal Design vs. the Americans with Disabilities Act
The Americans with Disabilities Act (ADA) is a piece of legislation that protects the civil rights of people with disabilities by ensuring that they are not unfairly denied access to job opportunities, goods or services due to their disability. The ADA includes the 2010 ADA Standards for Accessible Design, which outlines accessibility requirements for buildings and facilities. There is a great deal of overlap between what is required under the ADA and what would be suggested by Universal Design, but there are also differences. The ADA outlines the bare minimum necessary in order to curb discrimination against people with disabilities, while Universal Design strives to meet the best practices for design, which are always evolving and improving as we continue to learn more about how to best meet people’s different needs. The ADA focuses solely on the civil rights of people with disabilities, while Universal Design is designed with everyone in mind. The ADA does not apply to single family residences, while Universal Design can and should.

Below are some examples of universal designs:

Low Force Flooring Materials
There is actually a reason that short, stiff carpets and hard surface floors are found in most public buildings. If you use a wheelchair, you know how difficult it can be to push through even slightly plush carpet. Wheelchairs, handcarts, strollers – they are all easier to operate on hard surfaces.

Seamless Room Transitions
Room thresholds are most common in transitions between areas of carpeting and hard surfaces, and those lips can be not only difficult, but painful to maneuver over. Sticking to a consistent flooring style and removing those thresholds can make a huge impact on ease of maneuvering an interior.

Access for Pools
An hour of freely moving around in the water gives people with severe arthritis, muscle atrophy, and more a way to recover and live a significantly more pain-free life. This is why an increasing number of public pools have accessible chairs on metal arms by the side of the pool.

Lever Handles Instead of Knobs
Knobs, while being visually more appealing, require quite a bit more arm and wrist torque to move the bolt. Lever handles require both less force and overall motion.

Close Captioning/Large Print
Tablets, eReaders, smartphones, and more have shortcuts to increase font size easily – another great example of subtle universal design. This is the same principle behind why Netflix, YouTube and others alike now have captioning built in. Disability or not, these features can make life easier.

 

Popliteal Pterygium Syndrome

What is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.

Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum).

People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.

How common is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.

What genes are related to popliteal pterygium syndrome?
Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.

Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor’s effect on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the signs and symptoms of popliteal pterygium syndrome.

Neuromuscular Disorders

Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe.

Examples of neuromuscular disorders include

Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.

Chronic Fatigue Syndrome

Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill.

Besides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years.

Researchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. However, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable.

While a single cause for CFS may yet be identified, another possibility is that CFS has multiple triggers. Some of the possible causes of CFS might be:

  • infections
  • immune dysfunction
  • abnormally low blood pressure that can cause fainting (neurally mediated hypotension)
  • nutritional deficiency
  • stress that activates the axis where the hypothalamus, pituitary, and adrenal glands interact (the HPA axis)

Sypmtoms
The primary symptom of CFS is unexplained, severe fatigue lasting at least 6 months that is not improved by bed rest and that can get worse after physical activity or mental exertion. Individuals with CFS experience a fatigue so strong that their activity levels and stamina decline dramatically. However, fatigue is not the only symptom, and for some patients may not be the symptom that bothers them the most.

As stated in the 1994 case definition, the fatigue of CFS is accompanied by at least 4 of 8 characteristic symptoms lasting at least 6 months. These symptoms include:

  • post-exertion malaise lasting more than 24 hours
  • un-refreshing sleep
  • significant impairment of short-term memory or concentration
  • muscle pain
  • pain in the joints without swelling or redness
  • headaches of a new type, pattern, or severity
  • tender lymph nodes in the neck or armpit
  • a sore throat that is frequent or recurring

The symptoms listed above are the symptoms used to diagnose this illness. However, many CFS patients may experience other symptoms, including irritable bowel, depression or other psychological problems, chills and night sweats, visual disturbances, brain fog, difficulty maintaining upright position, dizziness, balance problems, fainting, and allergies or sensitivities to foods, odors, chemicals, medications, or noise.

Traumatic Brain Injury Awareness

Traumatic brain injury, often referred to as TBI, is most often an acute event similar to other injuries. That is where the similarity between traumatic brain injury and other injuries ends. One moment the person is normal and the next moment life has abruptly changed.

In most other aspects, a traumatic brain injury is very different. Since our brain defines who we are, the consequences of a brain injury can affect all aspects of our lives, including our personality. A brain injury is different from a broken limb or punctured lung. An injury in these areas limit the use of a specific part of your body, but your personality and mental abilities remain unchanged. Most often, these body structures heal and regain their previous function.

Brain injuries do not heal like other injuries. Recovery is a functional recovery, based on mechanisms that remain uncertain. No two brain injuries are alike and the consequence of two similar injuries may be very different. Symptoms may appear right away or may not be present for days or weeks after the injury.

One of the consequences of brain injury is that the person often does not realize that a brain injury has occurred.

March Is Developmental Disabilities Awareness Month

President Ronald Reagan declared March to be Developmental Disabilities Awareness Month in 1987, urging “all Americans to join me in according to our fellow citizens with such disabilities both encouragement and the opportunities they need to lead productive lives and to achieve their full potential.”

What is a Developmental Disability?

Definition of Developmental Disability
Developmental Disability means a disability that is manifested before the person reaches twenty-two (22) years of age, which constitutes a substantial disability to the affected individual, and is attributable to mental retardation or related conditions which include cerebral palsy, epilepsy, autism or other neurological conditions when such conditions result in impairment of general intellectual functioning or adaptive behavior similar to that of a person with mental retardation. Unless otherwise specifically stated, the federal definition of “Developmental Disability” found in 42 U.S.C. 6000, et seq., shall not apply.

  • A. Impairment of general intellectual functioning means that the person has been determined to have an intellectual quotient equivalent which is two or more standard deviations below the mean (70 or less assuming a scale with a mean of 100 and a standard deviation of 15), as measured by an instrument which is standardized, appropriate to the nature of the person’s disability, and administered by a qualified professional. The standard error of measurement of the instrument should be considered when determining the intellectual quotient equivalent. When an individual’s general intellectual functioning cannot be measured by a standardized instrument, then the assessment of a qualified professional shall be used.
  • B. “Adaptive behavior similar to that of a person with mental retardation” means that the person has overall adaptive behavior which is two or more standard deviations below the mean in two or more skill areas (communication, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure, and work), as measured by an instrument which is standardized, appropriate to the person’s living environment, and administered and clinically determined by a qualified professional. These adaptive behavior limitations are a direct result of, or are significantly influenced by, the person’s substantial intellectual deficits and may not be attributable to only a physical or sensory impairment or mental illness.

“Substantial intellectual deficits” means an intellectual quotient that is between 71 and 75 assuming a scale with a mean of 100 and a standard deviation of 15, as measured by an instrument which is standardized, appropriate to the nature of the person’s disability, and administered by a qualified professional. The standard error of measurement of the instrument should be considered when determining the intellectual quotient equivalent.

 

Definition of Developmental Delay
A developmental delay is the slowed or impaired development of a child who is under 5 years old and who is at risk of having a developmental disability because of the presence of one or more of the following:

  • Congenital syndromes and conditions associated with delay in development,
  • Metabolic disorders,
  • Prenatal and perinatal infections and significant medical problems,
  • Low birth weight infants weighing less than 1200 grams,
  • Postnatal acquired problems known to result in significant developmental delays, OR:
  • A child less than 5 years old who is delayed in development by 1.5 standard deviations or more in one or more of the following areas; communication, self-help, social-emotional, motor skills, sensory development or cognition, OR
  • A child less than 3 years of age who lives with one or both parents who have a developmental disability.

Multiple Sclerosis Awareness

Multiple sclerosis (MS) is an unpredictable, often disabling disease of the central nervous system that disrupts the flow of information within the brain, and between the brain and body.

Types of MS


Four disease courses have been identified in multiple sclerosis: relapsing-remitting MS (RRMS), primary-progressive MS (PPMS), secondary-progressive MS (SPMS), and progressive-relapsing MS. Each of these disease courses might be mild, moderate or severe.

Relapsing-remitting MS (RRMS)
RRMS — the most common disease course — is characterized by clearly defined attacks of worsening neurologic function. These attacks — also called relapses, flare-ups or exacerbations — are followed by partial or complete recovery periods (remissions), during which symptoms improve partially or completely and there is no apparent progression of disease. Approximately 85 percent of people with MS are initially diagnosed with relapsing-remitting MS.

Secondary-progressive MS (SPMS)
The name for this course comes from the fact that it follows after the relapsing-remitting course. Most people who are initially diagnosed with RRMS will eventually transition to SPMS, which means that the disease will begin to progress more steadily (although not necessarily more quickly), with or without relapses.

Primary-progressive MS (PPMS)
PPMS is characterized by steadily worsening neurologic function from the beginning. Although the rate of progression may vary over time with occasional plateaus and temporary, minor improvements, there are no distinct relapses or remissions. About 10 percent of people with MS are diagnosed with PPMS.

Progressive-relapsing MS (PRMS)
PRMS — the least common of the four disease courses — is characterized by steadily progressing disease from the beginning and occasional exacerbations along the way. People with this form of MS may or may not experience some recovery following these attacks; the disease continues to progress without remissions.

 For More Information please contact the The National MS Society

Semper Fi Fund: Our mission is crucial. Our duty is clear.

About The SEMPER FI FUND (SFF):
The Semper Fi Fund, and its program America’s Fund, provide immediate financial assistance and lifetime support to post 9/11 wounded, critically ill and injured members of all branches of the U.S. Armed Forces, and their families, ensuring that they have the resources they need during their recovery and transition back to their communities. Since establishing the Semper Fi Fund in 2004, they’ve issued more than 86,000 grants, totaling more than $102 million in assistance to over 13,300 of our heroes and their families.

Who Are They?:
The Semper Fi Fund was created by a group of Marine Corps spouses nine years ago, and those same women run the Fund today alongside other spouses from all service branches, retired service members, all of whom intimately know the needs of our military families. They have been by our injured and ill service members’ sides from day one, helping them as they navigate lengthy recoveries and rejoin their communities.

How They Help:
Financial, emotional, and tiered support for our injured/ill service members and their families through the following programs: Family Support, Adaptive Housing, Adaptive Transportation, Specialized Equipment, Education and Career Transitioning, Rehabilitative Sports programs, and more.

Who They Help:
Qualifying post 9/11 Marines, Sailors, Soldiers, Airmen, Coast Guardsmen, and reservists with amputations, spinal cord injuries, Traumatic Brain Injury (TBI), severe Post Traumatic Stress Disorder (PTSD), burns, blindness, other physical injuries, or those suffering from life-threatening illnesses. We also help spouses and children of active duty service members who face a life threatening illness or injury.

How Are They Unique:
The Semper Fi Fund has been awarded the highest ratings from watch dog groups: A+ Top Rated Charity from CharityWatch, and we are one of only three veteran nonprofits to receive this rating in recent years; and 4 Stars from Charity Navigator a rating only given to 4% of all charities. They maintain an extremely low overhead – 6% and provide rapid assistance with no red tape.

How They Raise Funding:
The Semper Fi Fund relies completely on donations from generous individuals, corporations, foundations, and community groups. In an effort to keep their fundraising and administrative costs low, they do not receive government funding or use direct mail campaigns. Their communities across the country host fundraising and awareness events for their mission, both big and small: golf tournaments, motorcycle poker runs, 5/10K races, dinners, and contests – whatever their passion may be! Their are members of the Combined Federal Campaign, through which federal, civilian, postal, and military donors can support us. They encourage all citizens across America to join them in their quest to support our military members who have sacrificed so much in the service to our country.

Their Philosophy:
The basic ideal that drives our efforts is simple: for as much as our heroes have sacrificed, they deserve the best care and support available in their hour of need. They are committed to being there at the time of injury or illness and for a lifetime if needed.

Looking Forward:
The Semper Fi Fund has been successful over the years thanks to their loyal supporters, both individuals and corporations. Yet our challenges continue to intensify due to the level of severity of injury, illness, and post-traumatic stress unique to the length of war on terrorism. These critical injuries are brought home and often call for a lifetime of assistance.

Tax-deductible contributions from people like you make up our lifeblood; whether donations are large or small, a one-time gift or ongoing endowment, every individual or corporation has the power to make a real difference, here and now, no matter where they are in the world.

The Semper Fi Fund is forever grateful to each of their supporters who share in their ongoing mission.

Please help them help those who have given so much in the name of freedom.

Congenital Heart Defects: Frequently Asked Questions

What is a congenital heart defect?

  • Congenital heart defects (CHDs) are problems with the heart’s structure that are present at birth.
  • Common examples include holes in the inside walls of the heart and narrowed or leaky valves. In more severe forms of CHDs, blood vessels or heart chambers may be missing, poorly formed, and/or in the wrong place.

How common are congenital heart defects?

  • CHDs are the most common birth defects. CHDs occur in almost 1% of births.
  • An approximate 100-200 deaths are due to unrecognized heart disease in newborns each year. These numbers exclude those dying before diagnosis.
  • Nearly 40,000 infants in the U.S. are born each year with CHDs.
  • CHDs are as common as autism and about twenty-five times more common than cystic fibrosis.
  • Approximately two to three million individuals are thought to be living in the United States with CHDs. Because there is no U.S. system to track CHDs beyond early childhood, more precise estimates are not available.
  • Thanks to improvements in survival, the number of adults living with CHDs is increasing. It is now believed that the number of adults living with CHDs is at least equal to, if not greater than, the number of children living with CHDs.

What is the health impact of congenital heart defects?

  • CHDs are the most common cause of infant death due to birth defects.
  • Approximately 25% of children born with a CHD will need heart surgery or other interventions to survive.
  • Over 85% of babies born with a CHD now live to at least age 18. However, children born with more severe forms of CHDs are less likely to reach adulthood.
  • Surgery is often not a cure for CHDs. Many individuals with CHDs require additional operation(s) and/or medications as adults.
  • People with CHDs face a life-long risk of health problems such as issues with growth and eating, developmental delays, difficulty with exercise, heart rhythm problems, heart failure, sudden cardiac arrest or stroke.
  • People with CHDs are now living long enough to develop illnesses like the rest of the adult population, such as high blood pressure, obesity and acquired heart disease.
  • CHDs are now the most common heart problem in pregnant women.

What causes congenital heart defects?

  • Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions.
  • Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. Because the heart is formed so early in pregnancy, the damage may occur before most women know they are pregnant.
  • Environmental exposures that may be related to risk of having a CHD include the mother’s diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking, and some infections also may raise the risk of having a baby with a CHD. Preventing these risk factors before a pregnancy is crucial.
  • A baby’s risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.

February is National AMD/Low Vision Awareness Month

AMD or Age-Related Macular degeneration is the leading cause of vision loss affecting over 15 million adults over the age of 50.To understand how AMD affects your vision. Take your left hand and cover your left eye, now make a fist with your right hand. Take your right fist and place it directly in front of your right eye. The only thing you should see is images in your periphery or side vision. Now imagine that this is how you are to function within the world.

AMD
Age-Related Macular degeneration can develop so slowly that it’s not until the vision is getting severely bad that the patient will notice. Age-Related Macular Degeneration primarily destroys the sharp central vision controlled by a spot at the back of the retina called the macula. Sharp central vision is needed to read, drive, identify faces, watch television and perform daily tasks that require straight ahead vision.

Risk Factors
The exact cause of AMD is not known. But there are a number of risk factors that may play a role. Some you can help control, some you can’t.The same things that put you at risk for heart disease and stroke also put you at risk for AMD. These include:
• High blood pressure
• High cholesterol
• Obesity
• Smoking
Risks you cannot control include age, family history, gender and race.
Symptoms
AMD symptoms include blurriness, wavy lines, or a blind spot. You may also notice visual distortions such as:
• Straight lines or faces appearing wavy
• Doorways seeming crooked
• Objects appearing smaller or farther away
If you notice any of these symptoms, you should see an ophthalmologist as soon as possible. If you are diagnosed with wet AMD, it is important to see a Retina Specialist for the most appropriate care

Living with AMD
Make the Most of your Vision. Millions of people have macular degeneration and millions of them continue to do everything they always did. Because you never become blind with AMD, there is always sight available if you know how to use it.
The peripheral vision you have helps you to get around the house and outside. There are devices and techniques for everything from reading to cooking to watching sports on TV. You may have to stop driving at some point, but for everything else, there is a solution.
If you are losing sight, there are some simple things you can do on your own to improve your ability to see. Don’t become discouraged! You will probably need to try out multiple devices before you find one that works for you. These range from magnifiers that are held in the hand or suspended on a stand to devices that attach to your glasses or computers that help you to read.

Things you can do on your own:
• Improve the lighting in your home and office. This may not necessarily mean that you should increase the lighting or the brightness. Glare is often a problem for people with low vision. You’ll need to experiment to see what works best for you. Special lights are available through many catalogs.
• Use high contrast for reading and writing. Write in large letters with a broad felt tip pen on white or light paper.
• Use large print books or try other media, like books on tape, disk or mp3. Most libraries have a section of these or you can find them online. There are also special libraries for visually impaired.
• Use a hand held magnifier. In the beginning, you may find some help at your local drug store by trying out the various small hand-held magnifiers available. If one of them helps your vision, you should certainly use it. Other magnifying devices may be more useful if your vision is very bad.

February is National ‘Wise Health Consumer’ Month

February is National ‘Wise Health Consumer’ Month, sponsored by The American Institute of Preventive Medicine. As healthcare costs continue to rise, and our economy continues to fluctuate, American consumers continue to search for ways to make wise health decisions in order to get the most out of their money. Now, more than ever, it is extremely important to make sure you are making wise decisions when it comes to your healthcare.

Practicing prevention, taking good care of yourself, and managing costs can all get you on the right path toward saving money and becoming a wise health consumer. Being a wise health consumer means exploring your options and taking responsibility for your good health; it means staying involved and informed, and paying attention to the care that you receive.

The healthcare decisions that you make now can have a direct influence on your overall well-being, as well as the quality and cost of your care.

There are several things you can do to become a wise health consumer:

Get appropriate health screenings. Routine preventive care services to maintain your health and prevent disease are important to living a healthy life. Talk with your doctor about your health questions and concerns.

Select your healthcare providers with care. Take your time and carefully select your healthcare providers. Get referrals from your family or friends.

Practice healthy living in your own life. Healthy Living isn’t just an area of focus for our members, but should also be a focus in our own lives as well. Making healthy lifestyle choices can contribute to a long, healthy, and productive life.

February Is American Heart Month: Are You at Risk for Heart Disease?

Heart disease is the leading cause of death for men and women in the United States. Every year, 1 in 4 deaths are caused by heart disease.

The good news? Heart disease can often be prevented when people make healthy choices and manage their health conditions. Communities, health professionals, and families can work together to create opportunities for people to make healthier choices

During the month of February, Americans see the human heart as the symbol of love. February is American Heart Month, a time to show yourself the love. Learn about your risks for heart disease and stroke and stay “heart healthy” for yourself and your loved ones.

Cardiovascular disease (CVD)—including heart disease, stroke, and high blood pressure— is a leading cause of disability, preventing Americans from working and enjoying family activities. CVD costs the United States over $300 billion each year, including the cost of health care services, medications, and lost productivity.

Understanding the Burden of CVD
CVD does not affect all groups of people in the same way. Although the number of preventable deaths has declined in people aged 65 to 74 years, it has remained unchanged in people under age 65. Men are more than twice as likely as women to die from preventable CVD.

Many CVD deaths could have been prevented through healthier habits, healthier living spaces, and better management of conditions like high blood pressure and diabetes.

Take It One Step at a Time

You can control a number of risk factors for CVD, including:

  • Diet
  • Physical activity
  • Tobacco use
  • Obesity
  • High blood pressure
  • High blood cholesterol
  • Diabetes

As you begin your journey to better heart health that can last a lifetime, keep these things in mind:

  • Try not to become overwhelmed. Every step brings you closer to a healthier heart, and every healthy choice makes a difference!
  • Partner up. The journey is more fun—and often more successful—when you have company. Ask friends and family to join you.
  • Don’t get discouraged. You may not be able to take all of the steps at one time. Get a good night’s sleep—also important for a healthy heart—and do what you can tomorrow.
  • Reward yourself. Find fun things to do to decrease your stress. Round up some colleagues for a lunchtime walk, join a singing group, or have a healthy dinner with your family or friends.

Plan for Prevention
Try out these strategies for better heart health. You’ll be surprised how many of them can become lifelong habits!

Work with your health care team. Get a checkup at least once each year, even if you feel healthy. A doctor, nurse, or other health care professional can check for conditions that put you at risk for CVD, such as high blood pressure and diabetes—conditions that can go unnoticed for too long.

Monitor your blood pressure. High blood pressure often has no symptoms, so be sure to have it checked on a regular basis. You can check your blood pressure at home, at a pharmacy, or at a doctor’s office.

Get your cholesterol checked. Your health care team should test your cholesterol levels at least once every 5 years. Talk with your health care professional about this simple blood test.

Eat a healthy diet. Choosing healthful meal and snack options can help you avoid CVD and its complications. Limiting sodium in your diet can lower your blood pressure. Be sure to eat plenty of fresh fruits and vegetables—adults should have at least five servings each day. Eating foods low in saturated fat, trans fat, and cholesterol and high in fiber.

Maintain a healthy weight. Being overweight or obese can increase your risk for CVD. To determine whether your weight is in a healthy range, health care professionals often calculate a number called body mass index (BMI). Doctors sometimes also use waist and hip measurements to measure a person’s body fat.

Exercise regularly. Physical activity can help you maintain a healthy weight and lower cholesterol and blood pressure. The Surgeon General recommends that adults should engage in moderate-intensity activity for at least 150 minutes per week. Remember to incorporate exercise into your day in different ways: take the stairs instead of the elevator, or rake the yard instead of using the leaf blower. Exercising with friends and family can be a great way to stay healthy and have fun.

Don’t smoke. Cigarette smoking greatly increases your risk for CVD. If you don’t smoke, don’t start. If you do smoke, quit as soon as possible. Your health care team can suggest ways to help you quit.

Limit alcohol use. Avoid drinking too much alcohol, which can increase your blood pressure. Men should stick to no more than two drinks per day, and women to no more than one.

Manage your diabetes. If you have diabetes, monitor your blood sugar levels closely, and talk with your health care team about treatment options.

Take your medicine. If you’re taking medication to treat high blood pressure, high cholesterol, diabetes, or another condition, follow the instructions carefully. Always ask questions if you don’t understand something. If you have side effects, talk with your health care team about your options.

Together, we all can prevent and manage heart disease, one step at a time.

How To Choose An Accessible Vehicle For A Child

Wheelchair vans are often needed by families who have children with disAbilities. Vehicles with special features are available and/or can be converted to accommodate them. The most important step is to start with an appointment with a mobility specialist.

Here are a few facts needed to help determine which accessible option best fits the needs of your child and your family.

The Child’s Size
A mobility consultant should be incredibly thorough in compiling the details such as wheelchair width and height, your child’s height while seated in the wheelchair, and other essential information, which should help identify the perfect van for your family.

Your child’s age and size are factors, too. If your child is young/small the vehicle that they easily fit into now could possibly be out grown. It is important to not only think of their needs now, but also to keep in mind that their needs may change in the future.

The Family’s Size
Consider the size of your family. A big family (5-7 children) might need the extra room provided by a full-size van. For smaller families, an adapted minivan should work nicely, and both vehicle styles can be equipped for wheelchair accessibility. Keep in mind that even an only child will have friends who will join you for an occasional outing.

The Child’s Condition
Along with wheelchair size, your child’s condition has tremendous bearing on vehicle selection. When a child with limited mobility travels with a ventilator or feeding tube, the vehicle must accommodate it. In such situations, rear entry access is often the better option.

Side entry vans require the wheelchair user to maneuver into position; an operating ventilator or feeding tube on an independent portable stand can easily make positioning awkward. Rear entry access eliminates the need to maneuver–the wheelchair and ancillary equipment roll directly into position from the back of the van.

Seating
If you or a caretaker needs to assist your child, it would be helpful to have a seat right next to the wheelchair, as the front passenger seat can make interaction awkward.

Now is a good time to talk about the front-passenger seat, which can be adapted for portability, so you can remove it completely. With a wheelchair docking system installed, the coveted front-passenger position is wheelchair-ready.

That said, size definitely matters here. The laws in some states restrict the size of a child riding in that position, with a typical recommendation of 50 lbs.+ and the ability to tolerate the force of a deployed airbag. A child with a frail or sensitive physical condition should be seated in the middle of the vehicle for safety. Make sure to familiarize yourself with your state’s seat-belt laws for wheelchair passengers.

Passengers
When there are several passengers in the van, middle seating in the vehicle would put your child at the center of attention and always part of the fun. The side entry accessible van has an array of configuration possibilities, including jump seats and the potential for passenger seating in front, alongside, and behind the wheelchair user in any accessible van.

Focus on the Future
When you find the accessible vehicle that fits the needs of you, your child and family now but are concerned about the changes that may come over time, discuss them with your mobility consultant. Future you has a few options. Keep in mind that additional modifications can be made to your vehicle to better fit you and your family. Another option future you will have is to trade in your vehicle for a newer one that will fit your needs better.

Invisible DisAbilities

Invisible DisAbilities

In general, the term disAbility is often used to describe an ongoing physical challenge. This could be a bump in life that can be well managed or a mountain that creates serious changes and loss. Either way, this term should not be used to describe a person as weaker or lesser than anyone else. Every person has a purpose, special uniqueness and value, no matter what hurdles they may face.

In addition, just because a person has a disAbility, does not mean they are disAbled. Many living with these challenges are still fully active in their work, families, sports or hobbies. Some with disAbilities are able to work full or part time, but struggle to get through their day, with little or no energy for other things. Others are unable to maintain gainful or substantial employment due to their disAbility, have trouble with daily living activities and/or need assistance with their care.

According to the Americans with Disabilities Act of 1990 (ADA) an individual with a disAbility is a person who: Has a physical or mental impairment that substantially limits one or more major life activities; has a record of such an impairment; or is regarded as having such an impairment (Disability Discrimination).

Furthermore, “A person is considered to have a disability if he or she has difficulty performing certain functions (seeing, hearing, talking, walking, climbing stairs and lifting and carrying), or has difficulty performing activities of daily living, or has difficulty with certain social roles (doing school work for children, working at a job and around the house for adults)” (Disabilities Affect One-Fifth of All Americans).

Often people think the term, disAbility, only refers to people using a wheelchair or walker. On the contrary,  the 1994-1995 Survey of Income and Program Participation (SIPP) found that 26 million Americans (almost 1 in 10) were considered to have a severe disAbility, while only 1.8 million used a wheelchair and 5.2 million used a cane, crutches or walker (Americans with Disabilities 94-95). In other words, 74% of Americans who live with a severe disAbility do not use such devices. Therefore, a disAbility cannot be determined solely on whether or not a person uses assistive equipment.

The term invisible disAbilities refers to symptoms such as debilitating pain, fatigue, dizziness, cognitive dysfunctions, brain injuries, learning differences and mental health disorders, as well as hearing and vision impairments.  These are not always obvious to the onlooker, but can sometimes or always limit daily activities, range from mild challenges to severe limitations and vary from person to person.

Also, someone who has a visible impairment or uses an assistive device such as a wheelchair, walker or cane can also have invisible disAbilities. For example, whether or not a person utilizes an assistive device, if they are debilitated by such symptoms as described above, they live with invisible disAbilities.

Unfortunately, people often judge others by what they see and often conclude a person can or cannot do something by the way they look. This can be equally frustrating for those who may appear unable, but are perfectly capable, as well as those who appear able, but are not.

The bottom line is that everyone with a disAbility is different, with varying challenges and needs, as well as abilities and attributes.  Thus, we all should learn to listen with our ears, instead of judging with our eyes.

Be Prepared For Natural Disasters

Natural disasters can take place at any moment and can come in any form from floods, severe weather, earthquakes and more, yielding unfortunate outcomes without warning.  Being prepared can save lives and planning is important; know who will help you if you need assistance or if you need to evacuate.

Be Informed
Ensure you have the proper equipment to stay up-to-the-minute on breaking news and changing weather patterns. You may need a radio for this, specifically one that runs on batteries so be sure you have extras. Know when, where and what local branches of organizations like American Red Cross, have planned in your specific location, and find out how they can help. Also, ensure you can maintain contact with those outside of your home, having a phone car charger and jumper cables could be essential.

Make a Plan
For people with mobility challenges, assistance can be crucial.

If are a caregiver, or if you have assembled a “Help Team” to assist a person in need:

  • Be helpful in letting others know exactly what you need and when you need it.
  • Contact family, friends, neighbors or social service agencies if and when possible.
  • Try to have someone available who can lift and carry heavy objects such as wheelchairs or other medical equipment.
  • Give at least one other person a key to the person’s home.
  • Each team member should have the contact information for the others.
  • Name a substitute caregiver in case the original is unavailable.

Develop an evacuation strategy with your “Disaster Team,” and consider the following:

  • Where are the closest special needs emergency shelters and what are the different routes you can take to reach them?
  • What supplies must you take with you that are used every day?
  • Whom should you inform that you are evacuating?
  • How much gas do you have and how much will much will you need? Be sure to keep your vehicle’s gas tank over 1/2 full at all times.

Make a Kit
Assemble your kit well in advance with the help of a list and be sure to include:

  • Water – Keep one gallon of water per person (and per pet) per day for at least three days. Make sure you replace the water every six months.
  • Food – Keep at least a 3-day stock of non-perishable food that requires little cooking and no refrigeration in a safe place. Include a manual can opener and eating utensils.

For those with mobility disAbilities:

  • Pair of heavy gloves to use while wheeling or making your way over glass and debris
  • Extra battery for your motorized wheelchair or scooter
  • Jumper cables or specific recharging device to be connected to an automobile’s cigarette lighter
  • Patch kit or can of “seal-in-air product” to repair flat tires
  • Spare cane or walker
  • Food, medicine, favorite toy, and other care items for your service animal
  • Plastic bags, disposable gloves, and other items for the animal’s care

Find out if you qualify for assistance and fill out a form in advance to ensure your safety should the need arise. And be aware of FEMA resources in your area, including their capabilities and the best way to reach them.

Un-Converted Senior-Friendly Vehicles

Are you looking for comfortable seating, a roomy driving position, safety, good visibility and wide doors with high entries/lowered floors so you don’t have to struggle to get in and out? In a vehicle with style, of course! Well now most automakers are designing cars with features that are more senior-friendly.

What to look for:

  • Sliding rear doors that require little strength or even better, power sliding doors. Power anything is a plus.
  • Brighter instrument displays and larger type.
  • Doors that open wider.
  • Navigation screens closer to eye level and not at arm’s length.
  • Large side mirrors.

AAA recommends that drivers look for vehicles with features that address their specific health issues/mobility needs:

  • For hip, knee or leg problems, a 6-way adjustable power seat is easier for drivers to enter and exit. Also look for seat heights that hit the driver between mid-thigh and lower buttocks.
  • Arthritic hands, painful or stiff fingers benefit from four-door models, thick steering wheels, keyless entry and ignition, power mirrors and seats and larger dashboard controls.
  • Those with diminished vision should look for extendable sun visors, large audio and climate controls and easy-to-read displays with contrasting text. And less glare. (Blue-green instrument lighting is easier to read than red.)
  • A roomy trunk that can fit a walker or wheelchair.

If you can’t find one car that has it all, remember that there are many different types of adaptive equipment that could work for you. Adaptive equipment options vary from the ability to control secondary functions like turn signals and wipers with a touchscreen or voice control to pedal extenders, swivel seats and much more.

COPD: Emphysema Awareness

Chronic obstructive pulmonary disease (COPD) is one of the leading cause of death in the U.S. and affects more than 12 million Americans.  COPD – which includes emphysema and chronic bronchitis – is a term used to describe the obstruction of airflow.

COPD cannot be cured, but it can be treated. Early detection and diagnosis is the key to successful management of this chronic disease.

Emphysema is a long-term, progressive disease of the lungs that primarily causes shortness of breath due to over-inflation of the alveoli (air sacs in the lung). In people with emphysema, the lung tissue involved in exchange of gases (oxygen and carbon dioxide) is impaired or destroyed. Emphysema is included in a group of diseases called chronic obstructive pulmonary disease or COPD (pulmonary refers to the lungs). Emphysema is called an obstructive lung disease because airflow on exhalation is slowed or stopped because over-inflated alveoli do not exchange gases when a person breaths due to little or no movement of gases out of the alveoli.

Emphysema changes the anatomy of the lung in several important ways. This is due to in part to the destruction of lung tissue around smaller airways. This tissue normally holds these small airways, called bronchioles, open, allowing air to leave the lungs on exhalation. When this tissue is damaged, these airways collapse, making it difficult for the lungs to empty and the air (gases) becomes trapped in the alveoli.

Normal lung tissue looks like a new sponge. Emphysematous lung looks like an old used sponge, with large holes and a dramatic loss of “springy-ness” or elasticity. When the lung is stretched during inflation (inhalation), the nature of the stretched tissue wants to relax to its resting state. In emphysema, this elastic function is impaired, resulting in air trapping in the lungs. Emphysema destroys this spongy tissue of the lung and also severely affects the small blood vessels (capillaries of the lung) and airways that run throughout the lung. Thus, not only is airflow affected but so is blood flow. This has dramatic impact on the ability for the lung not only to empty its air sacs called alveoli (pleural for alveolus) but also for blood to flow through the lungs to receive oxygen.

10 Early Signs and Symptoms of Alzheimer’s

Alzheimer’s is a brain disease that causes a slow decline in memory, thinking and reasoning skills. There are 10 warning signs and symptoms. Every individual may experience one or more of these signs in different degrees. If you notice any of them, please see a doctor.

  • Memory loss that disrupts daily life
    One of the most common signs of Alzheimer’s is memory loss, especially forgetting recently learned information. Others include forgetting important dates or events; asking for the same information over and over; increasingly needing to rely on memory aids (e.g., reminder notes or electronic devices) or family members for things they used to handle on their own.
  • Challenges in planning or solving problems
    Some people may experience changes in their ability to develop and follow a plan or work with numbers. They may have trouble following a familiar recipe or keeping track of monthly bills. They may have difficulty concentrating and take much longer to do things than they did before.
  • Difficulty completing familiar tasks at home, at work or at leisure
    People with Alzheimer’s often find it hard to complete daily tasks. Sometimes, people may have trouble driving to a familiar location, managing a budget at work or remembering the rules of a favorite game.
  • Confusion with time or place
    People with Alzheimer’s can lose track of dates, seasons and the passage of time. They may have trouble understanding something if it is not happening immediately. Sometimes they may forget where they are or how they got there.
  • Trouble understanding visual images and spatial relationships
    For some people, having vision problems is a sign of Alzheimer’s. They may have difficulty reading, judging distance and determining color or contrast, which may cause problems with driving.
  • New problems with words in speaking or writing
    People with Alzheimer’s may have trouble following or joining a conversation. They may stop in the middle of a conversation and have no idea how to continue or they may repeat themselves. They may struggle with vocabulary, have problems finding the right word or call things by the wrong name (e.g., calling a “watch” a “hand-clock”).
  • Misplacing things and losing the ability to retrace steps
    A person with Alzheimer’s disease may put things in unusual places. They may lose things and be unable to go back over their steps to find them again. Sometimes, they may accuse others of stealing. This may occur more frequently over time.
  • Decreased or poor judgment
    People with Alzheimer’s may experience changes in judgment or decision-making. For example, they may use poor judgment when dealing with money, giving large amounts to telemarketers. They may pay less attention to grooming or keeping themselves clean.
  • Withdrawal from work or social activities
    A person with Alzheimer’s may start to remove themselves from hobbies, social activities, work projects or sports. They may have trouble keeping up with a favorite sports team or remembering how to complete a favorite hobby. They may also avoid being social because of the changes they have experienced.
  • Changes in mood and personality
    The mood and personalities of people with Alzheimer’s can change. They can become confused, suspicious, depressed, fearful or anxious. They may be easily upset at home, at work, with friends or in places where they are out of their comfort zone.

November is National Epilepsy Awareness Month

Epilepsy affects about 2 million people in the United States and is characterized by recurrent, unprovoked seizures. Delayed recognition of these seizures and inadequate treatment increases the risk for additional seizures, disAbility, decreased health-related quality of life and, in rare instances, death.

Although epilepsy can occur at any age, the condition is more likely to begin among children less than 2 years of age and adults older than 65 years. As do many who live with other chronic disorders, those with epilepsy often face challenges related to managing epilepsy treatment, symptoms, disAbility, lifestyle limitations, emotional stress, and stigma.

CDC’s Managing Epilepsy Well (MEW) Network is composed of individuals interested in improving the care of people with epilepsy. MEW Network members, including representatives from U.S. universities, community-based organizations, and CDC are working together to develop and test self-management programs and tools that help people with epilepsy better manage their disorder and improve their quality of life.

MEW programs available to communities include WebEase, UPLIFT, and PEARLS. WebEase (Epilepsy Awareness Support and Education) is an Internet self-management program designed to improve medication adherence, stress management, and sleep. UPLIFT (Using Practice and Learning to Increase Favorable Thoughts) is an Internet and telephone program that combines cognitive behavioral therapy with mindfulness to treat depression in people with epilepsy. PEARLS (Program to Encourage Active Rewarding Lives) is a home-based, collaborative-care depression treatment program for adults with epilepsy.

Interventions that are currently being tested by MEW network researchers include a self-management program that combines self-regulation and social support for adults with refractory epilepsy; an electronic decision-support system for clinics to improve self-management communication and behavior; and a consumer-driven self-management program. New projects include a telephone intervention for rural dwelling adults with epilepsy and cognitive impairment, and self-management training for adults with epilepsy and co-existing serious mental illness.

November Is Alzheimer’s Awareness Month

November Is Alzheimer's Awareness Month

Alzheimer’s is a type of dementia that causes problems with memory, thinking and behavior. Symptoms usually develop slowly and get worse over time, becoming severe enough to interfere with daily tasks.

Alzheimer’s and dementia basics

  • Alzheimer’s is the most common form of dementia, a general term for memory loss and other intellectual abilities serious enough to interfere with daily life. Alzheimer’s disease accounts for 60 to 80 percent of dementia cases.
  • Alzheimer’s is not a normal part of aging, although the greatest known risk factor is increasing age, and the majority of people with Alzheimer’s are 65 and older. But Alzheimer’s is not just a disease of old age. Up to 5 percent of people with the disease have early onset Alzheimer’s (also known as younger-onset), which often appears when someone is in their 40s or 50s.
  • Alzheimer’s worsens over time. Alzheimer’s is a progressive disease, where dementia symptoms gradually worsen over a number of years. In its early stages, memory loss is mild, but with late-stage Alzheimer’s, individuals lose the ability to carry on a conversation and respond to their environment. Alzheimer’s is the sixth leading cause of death in the United States. Those with Alzheimer’s live an average of eight years after their symptoms become noticeable to others, but survival can range from four to 20 years, depending on age and other health conditions.
  • Alzheimer’s has no current cure, but treatments for symptoms are available and research continues. Although current Alzheimer’s treatments cannot stop Alzheimer’s from progressing, they can temporarily slow the worsening of dementia symptoms and improve quality of life for those with Alzheimer’s and their caregivers. Today, there is a worldwide effort under way to find better ways to treat the disease, delay its onset, and prevent it from developing.

Symptoms of Alzheimer’s
The most common early symptom of Alzheimer’s is difficulty remembering newly learned information.

Just like the rest of our bodies, our brains change as we age . Most of us eventually notice some slowed thinking and occasional problems with remembering certain things. However, serious memory loss, confusion and other major changes in the way our minds work may be a sign that brain cells are failing.

The most common early symptom of Alzheimer’s is difficulty remembering newly learned information because Alzheimer’s changes typically begin in the part of the brain that affects learning. As Alzheimer’s advances through the brain it leads to increasingly severe symptoms, including disorientation, mood and behavior changes; deepening confusion about events, time and place; unfounded suspicions about family, friends and professional caregivers; more serious memory loss and behavior changes; and difficulty speaking, swallowing and walking.

People with memory loss or other possible signs of Alzheimer’s may find it hard to recognize they have a problem. Signs of dementia may be more obvious to family members or friends. Anyone experiencing dementia-like symptoms should see a doctor as soon as possible. If you need assistance finding a doctor with experience evaluating memory problems, your local Alzheimer’s Association chapter can help. Early diagnosis and intervention methods are improving dramatically, and treatment options and sources of support can improve quality of life.

Aicardi Syndrome

Aicardi syndrome is a rare neurologic disorder first described by the French neurologist, Dr. Jean Aicardi, in 1965. It occurs almost exclusively in females (46,XX), however, it can also occur in males with Klinfelter Syndrome (47,XXY).  A handful of reports in the literature exist of Aicardi syndrome in a normal male. Some of these reports have been disputed, and it is possible that these cases are caused by mosaic mutations of the Aicardi syndrome gene(s).

What Causes Aicardi Syndrome
The genetic basis or mutation which causes Aicardi syndrome has not been identified despite the efforts of several laboratories worldwide and genetic sequencing of affected children and their parents. Because Aicardi syndrome occurs only in a single member of a family, and virtually all cases are female, the genetic mutation is thought to be a dominant de novo (i.e., spontaneous) mutation in an X-linked gene with lethality in normal (46,XY) males. There are at least 6 sets of twins that are discordant for Aicardi syndrome, and one known set of monozygotic twins and one pair of non-twin sisters that are both affected. Aicardi syndrome in the non-twin sisters is likely due to chance since there have been no other reports of Aicardi syndrome in two siblings.

Features of Aicardi Syndrome
Aicardi syndrome is classically defined in over 90% of cases by three cardinal features:

  • Agenesis (absence of or failed development of a body part) of the corpus callosum
  • Chorioretinal lacunae (punched out lesions in the pigmented layer of the retina)
  • Infantile spasms (a seizure disorder of infancy and early childhood)

In 1999, the diagnostic spectrum of Aicardi syndrome was broadened to include patients with present, but usually abnormal, corpus callosum or absence of infantile spasms or lacunae, if other typical brain abnormalities are present. Specifically, the revised criteria were expanded to include two classic features plus at least two other major or supporting features. Retinal lacunae and seizures are present in all, or almost all, of the cases.  Major and supporting features include:

Major Features

  • Cortical (one of the two types of osseous tissue that form bones) malformations; mostly polymicrogyria (abnormal development of the brain before birth)
  • Periventricular heterotopia (nerve cells [neurons] do not migrate properly during the early development)
  • Subcortical heterotopia (abnormal brain development that is present from birth)
  • Cysts around third cerebral ventricle and/or choroid plexus
  • Papillomas of choroid plexuses (a rare, benign [noncancerous] tumor)
  • Optic disc/nerve coloboma (developmental defect of the eye)

Supporting Features

  • Vertebral and costal (the ribs or the upper sides of the body) abnormalities
  • Microphthalmia or other eye abnormalities
  • “Split-brain” EEG
  • Gross cerebral hemispheric asymmetry.

Involvement of other organ systems besides the brain and eyes are also common but the signs and symptoms are not part of the diagnostic criteria and are not present in all cases. These include:

  • Vascular malformations or vascular malignancy
  • Microcephaly (when a person’s head is significantly smaller than normal for their age & sex)
  • Hypotonia (decreased muscle tone)
  • Spasticity (stiff or rigid muscles)
  • Hypertonia (abnormal increase in muscle tension and a reduced ability of a muscle to stretch)
  • Scoliosis (abnormal curving of the spine)
  • Prominent premaxilla (bilateral cleft lip and palate)
  • Gastroesophageal reflux
  • Feeding problems
  • Small or malformed hands
  • Precocious or delayed puberty
  • Global developmental disabilities

It is generally accepted that the number and severity of features present in a child with Aicardi syndrome is associated with the individual prognosis.

7 Myths About Physical Therapy

People everywhere are experiencing the transformative effect physical therapy can have on their daily lives. In fact, as experts in the way the body moves, physical therapists help people of all ages and abilities reduce pain, improve or restore mobility, and stay active and fit throughout life. But there are some common misconceptions that often discourage people from visiting a physical therapist.

It’s time to debunk 7 common myths about physical therapy:

Myth: I need a referral to see a physical therapist.

Fact: A recent survey by the American Physical Therapy Association (APTA) revealed 70% of people think a referral or prescription is required for evaluation by a physical therapist. However, all 50 states and the District of Columbia (DC) allow patients to be evaluated by a physical therapist without a physician’s prior referral. In addition, 48 states and DC allow for some form of treatment or intervention without a physician referral or prescription (Oklahoma and Michigan being the exception). Beginning November 1, 2014, patients in Oklahoma will be able to seek treatment from a physical therapist without a physician referral. On January 1, 2015, patients in Michigan will be able to do so, as well. Some states have restrictions about the treatment a physical therapists can provide without a physician referral. Check out APTA’s direct access summary chart to see the restrctions in your state.

Myth: Physical therapy is painful.

Fact: Physical therapists seek to minimize your pain and discomfort—including chronic or long-term pain. They work within your pain threshold to help you heal, and restore movement and function. The survey found that although 71% of people who have never visited a physical therapist think physical therapy is painful, that number significantly decreases among patients who have seen a physical therapist in the past year.

Myth: Physical therapy is only for injuries and accidents.

Fact: Physical therapists do a lot more than just stretch or strengthen weak muscles after an injury or surgery. They are skilled at evaluating and diagnosing potential problems before they lead to more serious injuries or disabling conditions—from carpal tunnel syndrome and frozen shoulder, to chronic headaches and lower back pain, to name a few.

Myth: Any health care professional can perform physical therapy.

Fact: Although 42% of consumers know that physical therapy can only be performed by a licensed physical therapist, 37% still believe other health care professionals can also administer physical therapy. Many physical therapists also pursue board certification in specific areas such as neurology, orthopedics, sports, or women’s health.

Myth: Physical therapy isn’t covered by insurance.

Fact: Most insurance policies cover some form of physical therapy. Beyond insurance coverage, physical therapy has proven to reduce costs by helping people avoid unnecessary imaging scans, surgery, or prescription drugs. Physical therapy can also lower costs by helping patients avoid falls or by addressing conditions before they become chronic.

Myth: Surgery is my only option.

Fact: In many cases, physical therapy has been shown to be as effective as surgery in treating a wide range of conditions—from rotator cuff tears and degenerative disk disease, to meniscal tears and some forms of knee osteoarthritis. Those who have recently seen a physical therapist know this to be true, with 79% believing physical therapy can provide an alternative to surgery.

Myth: I can do physical therapy myself.

Fact: Your participation is key to a successful treatment plan, but every patient still needs the expert care and guidance of a licensed physical therapist. Your therapist will leverage his or her specialized education, clinical expertise, and the latest available evidence to evaluate your needs and make a diagnosis before creating an individualized plan of care.

How to Stay in Shape During the Off Season

It is hard to keep in shape during the fall and even more so in the winter season. This holds true more so for a person who is differently abled. During the time of bad weather, like rain or snow, it is almost impossible to get around or to get out and do a little running or pushing. There are always alternatives though, you could purchase or make your own weights. If you are less of a strength person and more of a stamina or cardio person, you can always take the time to go for a roll around the neighborhood or nearest public track, if there is one.

If you lack the transportation, are unable to leave the house, or bad weather bothers you such as rain, you can always invest in an indoor rolling trainer. This device assures you a cardio workout from the comfort of your own house or garage. Equipment like this can get exceptionally pricey, unfortunately. Some may think, “Why the high price for pieces of metal welded together?” if this is you, you can always construct your own.

There are stores online that sell the equipment such as these, that are needed for a person whose day to day life involves a disAbility.

If you are a handy person and like to make things there are also videos online on sites such as YouTube that have “Do It Yourself” videos on how to construct a rolling trainer. If you are looking for an alternative to working out this fall or winter season and do not know where to start, here are some simple questions to ask yourself. What is the purpose of wanting to get in shape? What do you need to work on more: strength, speed, stamina or all of the above?

You will need to figure out what exercises you are capable of. Once you have figured out your abilities and where you want to go with your workouts/exercises, the, there is no better time to start your road to health or training for a sport then as soon as possible. Make sure to be happy with your choices and be safe in your workout endeavors.

Mental Illness Awareness Week: October 5-11 2014

In 1990, the U.S. Congress established the first full week of October as Mental Illness Awareness Week (MIAW) in recognition of NAMI’s efforts to raise mental illness awareness. Since then, mental health advocates across the country have joined with others in their communities to sponsor activities, large or small, for public education about mental illness.

What is mental illness?

A mental illness is a medical condition that disrupts a person’s thinking, feeling, mood, ability to relate to others and daily functioning. Just as diabetes is a disorder of the pancreas, mental illnesses are medical conditions that often result in a diminished capacity for coping with the ordinary demands of life.

Serious mental illnesses include major depression, schizophrenia, bipolar disorder, obsessive compulsive disorder (OCD), panic disorder, posttraumatic stress disorder (PTSD) and borderline personality disorder. The good news about mental illness is that recovery is possible.

Mental illnesses can affect persons of any age, race, religion or income. Mental illnesses are not the result of personal weakness, lack of character or poor upbringing. Mental illnesses are treatable. Most people diagnosed with a serious mental illness can experience relief from their symptoms by actively participating in an individual treatment plan.

Rett Syndrome Awareness

What is Rett Syndrome?
Rett syndrome is a postnatal neurological disorder seen almost always in girls, but can be rarely seen in boys. It is not a degenerative disorder.

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.


Testing and Diagnosis
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.

October to be National Chiropractic Health Month: Get Vertical

Whatever your condition, there are steps you can take to improve your back health by getting vertical: standing up and exercising more. Moving helps increase circulation to your back, which in turn brings much needed nutrients to the disc spaces and soft tissues.

With this in mind, here are 7 tips to help you “Get Vertical”:

  1. Take a stand at work
    A health buzz word circulating for the past several months is “sitting disease.” Sitting too much all day, every day of the year has a serious impact our health. One study showed a significant increase in people’s mood and a decrease in their back pain when they stood for just one extra hour a day.

    If you work at the office all day, invest in a stand up desk. You can find simple, inexpensive models easily through an internet search.

    If a standing desk is not your style, aim to stand up and stretch at least every 20 minutes.

  2. Make an appointment with a physical therapist
    Physical therapy can have a profound effect on your spine health if you find the right therapist.
  3. Find a walking buddy
    Set a standing walking “date” with someone in your office or in your neighborhood who has a similar walking pace as you. Hopefully you’ll connect with someone who also has similar interests, so the time you spend walking will fly by.
  4. Or, just place a treadmill in your TV room
    Have you ever added up how many hours you actually spend watching your favorite TV series? Consider investing in a treadmill and walking at a moderate pace while you watch your favorite shows. You’ll be so engrossed in the plot lines you won’t even notice you’re moving!
  5. Adopt a dog
    Studies show dog owners tend to be happier and healthier than non-dog owners. It doesn’t take a study to show that if you have a dog, you’ll have to walk more. If you walk slowly, consider adopting an older dog who won’t demand a lot of time or energy, but who will just appreciate a home, and a low key walk every day. If you have more energy, go for a younger, more active dog to keep you on your toes.
  6. Or, offer to walk your neighbor’s dog
    If adopting a dog is too much responsibility, take notice of the harried mother down the street, or the elderly couple next door with dogs. Offering to walk their dogs even once or twice a week could be as big of a help to them as it is to your spine.
  7. Clean your own home
    If you really hate formal exercise, don’t discount how much you move when you clean your home and tend your own yard. Scrubbing the shower, mopping the floor, raking the leaves, pushing a mower all count as exercise. All these tasks accomplish the same things as formal exercises: they challenge your muscles and get your heart pumping.

October is Down Syndrome Awareness Month

October is Down Syndrome Awareness Month

Down Syndrome Awareness Month is chance to spread awareness, advocacy and inclusion throughout the community. During the month of October, we celebrate  individuals with Down syndrome and make people aware of their abilities and accomplishments

What Is Down Syndrome?
In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

How Common is Down Syndrome?
One in every 691 babies in the the United States is born with Down syndrome, making Down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.

What Causes Down Syndrome?
Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

When Was Down Syndrome Discovered?
For centuries, people with Down syndrome have been alluded to in art, literature and science. It wasn’t until the late nineteenth century, however, that John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly work, published in 1866, that earned Down the recognition as the “father” of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity.

In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome. In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This accomplishment opened the door to great advances in Down syndrome research.

Wheelchair Accessible Vehicles: Q&A

Wheelchair
Accessible Vans

Rear entry Vs. Side entry
Buying New Vs. Buying Used
Manual Ramp Vs. Powered Ramp
Honda Vs. Dodge/Chrysler Vs. Toyota Vs. Ford
Certified Mobility Dealer Vs. Car Dealer Vs. Buying online
What do you need to know to get maximum benefit for minimum expense?

Good information is the key to saving money and getting the most value for the dollar when making a big-ticket purchase like a wheelchair-accessible vehicle.

With that in mind, Seek out and find experts who truly care. Here are some answers to common questions about adaptive mobility equipment.

Can I just go to a car dealer down the street or do I need a certified mobility dealer?

Certified mobility dealers will help you buy the right vehicle and adaptive mobility equipment to meet your needs now and in the future. Future planning is especially important for people with muscle diseases that get progressively worse over time.

“Technology has improved tremendously over the years so there are numerous products available. Our goal is to help people find the right equipment that best fits their needs,” says Jim Sanders, president of Automotive Innovations based in Bridgewater, MA for over 25 years.

“Many times, consumers will go to a car dealer and buy a vehicle that can’t be modified or one that doesn’t fit their needs. And once you buy a vehicle, normally it’s very difficult to return.”

The National Mobility Equipment Dealers Association (NMEDA), a nonprofit organization that provides consumer guidance and ensures quality and professionalism in the manufacturing and installation of mobility equipment. Members include mobility equipment dealers, manufacturers, driver rehabilitation specialists and other professionals.

NMEDA member-dealers must follow the safety standards established by the National Highway Traffic Safety Administration (NHTSA), in addition to NMEDA’s own stringent guidelines.

Some dealers choose to enroll in NMEDA’s Quality Assurance Program (QAP), which requires them to adhere to national motor vehicle safety standards, and use proven quality control practices to yield the highest level of performance and safety. Automotive Innovations was the First Mobility Dealer in Massachusetts to enroll and exceed the safety standards.

“The QAP dealer is audited by an outside engineering firm to verify that technicians have been trained and that the dealer has insurance and make sure the facility is ADA-compliant,” which means the QAP dealer is going above and beyond.

 

Can I get a better price if I buy online rather than from a dealer?

As with any online shopping, the warning “buyer beware” rings true. Buying online without trying out different vehicles with different conversions can be a costly mistake. Furthermore there are many grey market converted vans being offered as quality conversions.

Online, you are mostly shopping blind. Typically you will have no idea how the vehicle you need will work for you, even with specific recommendations from a driver evaluator or occupational therapist.

“You definitely shouldn’t buy a wheelchair accessible vehicle online, most online sellers are not qualified Mobility Dealers attempting to assess your needs, they’re just car dealers trying to sell you something.”

Some online dealers even have questionnaires on their websites to try and give you the idea your getting what you need. But, it will never replace being able to go to a local mobility dealership and try the vans out first hand.

A mobility vehicle is probably the second-largest purchase after a house. You should see it, try it out, and make sure it’s something that will work for you and your family. It’s horrible when people spend so much an a vehicle that will never work for them.

Every vehicle is a little bit different — such as in the dimensions, electrical and fuel systems, or suspension modifications. “If you go online and buy a wheelchair accessible vehicle based on the price, you’re not really looking at the total package.”

While buying online may be able to save you some money up front, it won’t over the long term.

In addition to you missing out on the important local service contact that a mobility equipment dealer provides, these online deals or grey market vans are worth much less when it comes time to trade it in.

 

What are some common mistakes people make when buying a modified vehicle?

Manufacturers and mobility dealers agree that one of the most common — and costly — mistakes is buying the vehicle first and then shopping for the conversion or adaptive mobility equipment. Not all vehicles can be converted.

For example, If you purchase a minivan from a traditional car dealership you can hit a roadblock if it doesn’t meet specific requirements to have the floor lowered for a rear- or side-entry conversion.

 

What are some good questions to ask a dealer or manufacturer?

Although buying a modified vehicle can be “a daunting experience,” says VMI’s Monique McGivney, it also can be “exciting and fun when you walk in armed with good questions and information.”

Prior to getting an assessment from a mobility dealer, evaluate your needs and try answering the following questions:

  • What vehicle will fit in my garage?
  • What kind of parking issues will I encounter where I live?
  • What is the size and weight of my wheelchair?
  • What is my seated height in the wheelchair?
  • How many people will ride in the vehicle?
  • In what part of the vehicle do I want to sit?
  • Will I be able to drive with hand controls?
  • Do I want a full-size van, minivan or alternative vehicle?
  • Do I want manual or power equipment?
  • Will an in-floor ramp or fold-out ramp meet my needs?
  • What is my budget, and do I have access to supplemental funding?

The first question most mobility dealers will ask you is: “What is your seated height in the wheelchair?” From there, the dealer can advise whether a full-size or minivan is appropriate, and what kind of conversion is needed.

Be sure to ask the dealer about the warranty and how the vehicle can be serviced.

Which Make and Model is the best for a handicapped accessible vehicle?

It honestly depends on what you fit into best and what options you prefer.

No two wheelchair accessible vehicles are the same. They vary in size, shape, color, features and design depending on the vehicle’s make and model. The only way to guarantee which is the best vehicle for you is if you come in and try them all out.

For example: The Honda has a little bit more room inside to maneuver a wheelchair than a Dodge, just as a Toyota has a bit more space than a Honda. A Ford offers more headroom than all of the above. But that all depends on the conversion and manufacturer.

Although color and features matter least to us, some find them just as important as fitting into the vehicle. Each Manufacturer offers their own color schemes, which you can look up on their websites. You can also search for what features you would prefer to have.

When you come into our Mobility Center we will help you find the vehicle that best fits you and your family’s needs. If you love the vehicle but not the color or features we can custom order a vehicle for you. That way we know you are buying a vehicle that best fits you and one that you are 100% happy with.

Which is better: rear entry or side entry?

The most important difference between a rear entry and side-entry conversion is that with a rear entry, wheelchair users can’t drive from their wheelchairs nor can they ride in the front passenger seat. From there, the choice comes down to personal preference and budget.

In recent years, because of quality, convenience and cost, there’s been a shift toward side entry vehicles. Rear entry is more of a frugal modification, involves a less of conversion process and is typically a little less expensive than a side-entry conversion.

Many people prefer side entry with an in-floor conversion for many safety reasons additionally  because they can park almost anywhere and not worry deploying the ramp out into traffic. Also, side entry allows the consumer to ride in the passengers front position along with maintain the rear seats in a minivan because the conversion doesn’t affect that area.

Rear entry is harder to get out of compared to a side-entry.

Anyway you look at it side-entry vehicles are more versatile. For example, side entry allows someone with a progressively worsening condition to use the vehicle for a longer period of time. A wheelchair user can start out driving from his or her chair, and then move to several other positions in the vehicle when no longer able to drive.

Side-entry conversions typically are a little more expensive than rear-entry because they’re more intrusive and labor intensive. For example, with a minivan, the entire floor and frame must be removed and replaced with a lowered floor and new frame.


What’s the difference between a fold-out ramp and in-floor ramp?

This decision comes down to safety, aesthetics, convenience and cost.

A fold-out ramp folds up into the vehicle, takes up valuable space in the passengers front area and must be deployed whenever the door is opened.

The in-floor ramp slides under the floor which makes riding in the vehicle safer for anyone seated in the passengers front position or the mid-ship position. There is no obstruction to the doorway so other passengers can enter and exit without deploying the ramp. In-floor ramps are currently only available as a side-entry minivan conversion, but they offer a manual (un-powered) option as well.

In-floor ramps in addition to being safer will generally provide more room in the vehicle because there’s nothing blocking the doorway. The ramp is “out of sight, out of mind” and may last longer because it doesn’t have to be deployed each time the side passenger door opens.

Fold-out ramps generally cost a little less than an in-floor ramp and consumers can select from manual and power versions; a power fold-out ramp still costs less than an in-floor ramp.

If an in-floor ramp system breaks down or the vehicle loses power, VMI’s in-floor ramp systems have a backup system (sure-deploy) that bypasses the vehicle’s battery.

A lot of people just feel more secure knowing there isn’t a fold-out ramp next to them in the event of a accident.

I use a wheelchair, but a van or minivan just isn’t “me.” Are they my only options?

You have other choices.

Lowered-floor conversions with fold-out ramps can be done on the Honda Element, Chrysler PT Cruiser and Toyota Scion. The conversions are small and don’t fit as many people.

Due to them being built on a much smaller scale, the ones we have seen have not been built with the same level of quality as the minivan conversion. Parts availability and repairs have been a problem, some of the companies that converted them are out of business and or have no support for “something they used to build”

If you prefer to keep your standard car rather than purchasing a modified vehicle — and can make the transfer from a wheelchair to a car seat — the answer may be as simple as a set of hand controls or a left foot gas pedal

Turning seats can be used in a wide range of vehicles, from sedans to SUVs and pickup trucks. A way to transport the wheelchair (like a rear lift) also is needed.

The rate at which your symptoms worsen is one thing to consider when looking at turning seats — is it likely you’ll be able to transfer and ride in a car seat for many more years? Also, be sure to check with a mobility dealer to determine if your vehicle can accommodate a turning seat and a wheelchair lift.

Why are modified vehicles so  expensive?

A vehicle conversion can cost consumers upwards of $27,000 —  and that’s just the cost for the conversion, not the vehicle. The total package can run between $45,000 and $80,000 — or more.

Besides the cost of the components, the reason it’s so pricey is that basically there is a lot of work involved to build a quality vehicle.

Modified vehicles from certified manufacturers and dealers must meet NHTSA’s Federal Motor Vehicle Safety Standards (FMVSS). That means all modified vehicles must be properly crash tested. (To learn more, visit www.nhtsa.dot.gov.)

It’s quite a labor-intensive process because of the customization. When you make structural modifications to a vehicle, you have to go through all of the crash testing, and you have to show that the vehicle is compliant again, and those tests are very expensive.

Most of the time lowering the floor in a minivan requires replacing or moving the fuel tank. Once the conversion is finished, the vehicle still has to meet the original requirements for evaporative emissions, in addition to NHTSA requirements.

How can I pay less?

You have  a few options.

You could cut costs by purchasing a pre-owned vehicle with a new conversion, typically saving you around $10,000 to $12,000.

The previous van owner already has absorbed the depreciation hit on a new van, which essentially occurs right after they’ve driven off the dealer’s lot.

Buying used can be beneficial for first-time buyers who want to try out a vehicle for a few years before buying new.

But if you plan to buy used, do some research and make sure the vehicle is structurally sound including the conversion. Ask for a vehicle history (CARFAX) report, and get the vehicle inspected by a mobility dealer to ensure it’s in good shape and was well taken care of.

Another tactic to help save you money is to ask your Certified Mobility Dealer about any rebates or financial aid options that could benefit you.

How do people manage to pay for it?

Many consumers used home equity loans to purchase a vehicle and adaptive equipment.

Many dealers and manufacturers work with lending institutions that offer extended-term financing, including 10-year loans, allowing consumers to make lower, more affordable monthly payments. The downside is that consumers are locked into the vehicle for 10 years, and end up paying more in interest.

If you finance for 10 years, and you’re not going to keep the vehicle for that amount of time, you’re going to lose money when you try to sell or trade it because you haven’t paid off much of the balance.

When you buy a new vehicle, many car manufacturers offer mobility reimbursement programs (up to $1,000) to help offset the cost for the purchase and installation of adaptive equipment.

Caregiver Fatigue Syndrome

Caregiver Fatigue Syndrome

Caregivers walk a very delicate line. They are some of the strongest, most selfless individuals around — doing most anything and everything for their loved ones — but many are exhausted, stressed and overwhelmed trying to balance the rewarding process.

Caregiver stress, aka Caregiver Fatigue Syndrome or Caregiver Burnout, is the byproduct of the countless responsibilities, physical demands, strained time and rollercoaster circumstances that come with the turf. And, since many caregivers consistently put others before themselves, if not addressed, this stress will only snowball.

It’s like the airplane oxygen illustration: Before you help others assemble their masks, you must first ensure you have your own. In this regard, before a caregiver can expect to offer their loved one in a wheelchair or loved one with a disability the best care, they must first take care of themselves.

Any imbalance, and the quality of care for your loved one can decrease while your personal stress and fatigue begin to climb.

Physical Symptoms
Many outsiders don’t realize what it takes to be a caregiver. Unless they’ve been in a similar situation, it’s hard to grasp the physical strain of all the lifts and pulls. Transport has been simplified with the help of mobility vehicles, but there are still the routine transitions from bed to bathroom to dinner and then back to bed. Caregiving is hard work.

If you experience any of the following symptoms, you may have caregiver burnout:
● Decrease in overall energy
● Decrease in immunity (subject to more frequent colds/flus)
● Inconsistent sleep patterns
● Chronic back and/or joint pain
● Weight gains

Emotional Drain
In addition to the uncertainty of medical circumstances and the rollercoaster ride that your loved one may be experiencing, it’s not uncommon for a caregiver to feel alone or assume that nobody understands their situation. Activities and hobbies that once brought you joy may be sidelined to your responsibilities and the constant championing of your loved one might not leave much room for your own pursuits.

You may experience:
● Irritability and frustration
● Difficulty relaxing
● Impatience
● Feelings of hopelessness and helplessness
● Dissatisfaction

Mental Exhaustion
Scheduling, logistics, medications and meals — caregivers are the gatekeepers, chauffeurs, advocates, cooks and everything in between for their loved one. There are too many moving parts to name. It’s no wonder things begin to get mentally draining.

Mental exhaustion may be exhibited through:
● Difficulty concentrating
● Feelings of confusion
● Periods of tunnel vision

No matter the symptoms, caregiver fatigue is a serious concern and you are not alone. Don’t buy into the idea that you’re the only caregiver facing these challenges.

If high-quality care for your loved one tops your list, remember that the best starts with the best you.

Limb-Girdle Muscular Dystrophy

What is limb-girdle muscular dystrophy?
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.

In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.

Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) “stick out” from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.

Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing.

Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.

How common is limb-girdle muscular dystrophy?
It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.

Myasthenia Gravis

What is myasthenia gravis?
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The name myasthenia gravis, which is Latin and Greek in origin, literally means “grave muscle weakness.” With current therapies, however, most cases of myasthenia gravis are not as “grave” as the name implies. In fact, most individuals with myasthenia gravis have a normal life expectancy.

The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Certain muscles such as those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing are often, but not always, involved in the disorder. The muscles that control breathing and neck and limb movements may also be affected.

What causes myasthenia gravis?
Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. It occurs when normal communication between the nerve and muscle is interrupted at the neuromuscular junction—the place where nerve cells connect with the muscles they control. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. Acetylcholine travels from the neuromuscular junction and binds to acetylcholine receptors which are activated and generate a muscle contraction.

In myasthenia gravis, antibodies block, alter, or destroy the receptors for acetylcholine at the neuromuscular junction, which prevents the muscle contraction from occurring. These antibodies are produced by the body’s own immune system. Myasthenia gravis is an autoimmune disease because the immune system—which normally protects the body from foreign organisms—mistakenly attacks itself.

What is the role of the thymus gland in myasthenia gravis?
The thymus gland, which lies in the chest area beneath the breastbone, plays an important role in the development of the immune system in early life. Its cells form a part of the body’s normal immune system. The gland is somewhat large in infants, grows gradually until puberty, and then gets smaller and is replaced by fat with age. In adults with myasthenia gravis, the thymus gland remains large and is abnormal. It contains certain clusters of immune cells indicative of lymphoid hyperplasia—a condition usually found only in the spleen and lymph nodes during an active immune response. Some individuals with myasthenia gravis develop thymomas (tumors of the thymus gland). Thymomas are generally benign, but they can become malignant.

The relationship between the thymus gland and myasthenia gravis is not yet fully understood. Scientists believe the thymus gland may give incorrect instructions to developing immune cells, ultimately resulting in autoimmunity and the production of the acetylcholine receptor antibodies, thereby setting the stage for the attack on neuromuscular transmission.

What are the symptoms of myasthenia gravis?
Although myasthenia gravis may affect any voluntary muscle, muscles that control eye and eyelid movement, facial expression, and swallowing are most frequently affected. The onset of the disorder may be sudden and symptoms often are not immediately recognized as myasthenia gravis.

In most cases, the first noticeable symptom is weakness of the eye muscles. In others, difficulty in swallowing and slurred speech may be the first signs. The degree of muscle weakness involved in myasthenia gravis varies greatly among individuals, ranging from a localized form limited to eye muscles (ocular myasthenia), to a severe or generalized form in which many muscles—sometimes including those that control breathing—are affected. Symptoms, which vary in type and severity, may include a drooping of one or both eyelids (ptosis), blurred or double vision (diplopia) due to weakness of the muscles that control eye movements, unstable or waddling gait, a change in facial expression, difficulty in swallowing, shortness of breath, impaired speech (dysarthria), and weakness is the arms, hands, fingers, legs, and neck.

Who gets myasthenia gravis?
Myasthenia gravis occurs in all ethnic groups and both genders. It most commonly affects young adult women (under 40) and older men (over 60), but it can occur at any age.

In neonatal myasthenia, the fetus may acquire immune proteins (antibodies) from a mother affected with myasthenia gravis. Generally, cases of neonatal myasthenia gravis are temporary and the child’s symptoms usually disappear within 2-3 months after birth. Other children develop myasthenia gravis indistinguishable from adults. Myasthenia gravis in juveniles is uncommon.

Myasthenia gravis is not directly inherited nor is it contagious. Occasionally, the disease may occur in more than one member of the same family.

Rarely, children may show signs of congenital myasthenia or congenital myasthenic syndrome. These are not autoimmune disorders, but are caused by defective genes that produce abnormal proteins instead of those which normally would produce acetylcholine, acetylcholinesterase (the enzyme that breaks down acetylcholine), or the acetylcholine receptor and other proteins present along the muscle membrane.

How is myasthenia gravis diagnosed?
Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or delayed (sometimes up to two years) in people who experience mild weakness or in those individuals whose weakness is restricted to only a few muscles.

The first steps of diagnosing myasthenia gravis include a review of the individual’s medical history, and physical and neurological examinations. The physician looks for impairment of eye movements or muscle weakness without any changes in the individual’s ability to feel things. If the doctor suspects myasthenia gravis, several tests are available to confirm the diagnosis.

A special blood test can detect the presence of immune molecules or acetylcholine receptor antibodies. Most patients with myasthenia gravis have abnormally elevated levels of these antibodies. Recently, a second antibody—called the anti-MuSK antibody—has been found in about 30 to 40 percent of individuals with myasthenia gravis who do not have acetylcholine receptor antibodies. This antibody can also be tested for in the blood. However, neither of these antibodies is present in some individuals with myasthenia gravis, most often in those with ocular myasthenia gravis.

The edrophonium test uses intravenous administration of edrophonium chloride to very briefly relieve weakness in people with myasthenia gravis. The drug blocks the degradation (breakdown) of acetylcholine and temporarily increases the levels of acetylcholine at the neuromuscular junction. Other methods to confirm the diagnosis include a version of nerve conduction study which tests for specific muscle “fatigue” by repetitive nerve stimulation. This test records weakening muscle responses when the nerves are repetitively stimulated by small pulses of electricity. Repetitive stimulation of a nerve during a nerve conduction study may demonstrate gradual decreases of the muscle action potential due to impaired nerve-to-muscle transmission.

Single fiber electromyography (EMG) can also detect impaired nerve-to-muscle transmission. EMG measures the electrical potential of muscle cells when single muscle fibers are stimulated by electrical impulses. Muscle fibers in myasthenia gravis, as well as other neuromuscular disorders, do not respond as well to repeated electrical stimulation compared to muscles from normal individuals.

Diagnostic imaging of the chest, using computed tomography (CT) or magnetic resonance imaging (MRI), may be used to identify the presence of a thymoma.

Pulmonary function testing, which measures breathing strength, helps to predict whether respiration may fail and lead to a myasthenic crisis.

How is myasthenia gravis treated?
Today, myasthenia gravis can generally be controlled. There are several therapies available to help reduce and improve muscle weakness. Medications used to treat the disorder include anticholinesterase agents such as neostigmine and pyridostigmine, which help improve neuromuscular transmission and increase muscle strength. Immunosuppressive drugs such as prednisone, azathioprine, cyclosporin, mycophenolate mofetil, and tacrolimus may also be used. These medications improve muscle strength by suppressing the production of abnormal antibodies. Their use must be carefully monitored by a physician because they may cause major side effects.

Thymectomy, the surgical removal of the thymus gland (which often is abnormal in individuals with myasthenia gravis), reduces symptoms in some individuals without thymoma and may cure some people, possibly by re-balancing the immune system. Thymectomy is recommended for individuals with thymoma. Other therapies used to treat myasthenia gravis include plasmapheresis, a procedure in which serum containing the abnormal antibodies is removed from the blood while cells are replaced, and high-dose intravenous immune globulin, which temporarily modifies the immune system by infusing antibodies from donated blood. These therapies may be used to help individuals during especially difficult periods of weakness. A neurologist will determine which treatment option is best for each individual depending on the severity of the weakness, which muscles are affected, and the individual’s age and other associated medical problems.

What are myasthenic crises?
A myasthenic crisis occurs when the muscles that control breathing weaken to the point that ventilation is inadequate, creating a medical emergency and requiring a respirator for assisted ventilation. In individuals whose respiratory muscles are weak, crises—which generally call for immediate medical attention—may be triggered by infection, fever, or an adverse reaction to medication.

What is the prognosis?
With treatment, most individuals with myasthenia can significantly improve their muscle weakness and lead normal or nearly normal lives. Some cases of myasthenia gravis may go into remission—either temporarily or permanently—and muscle weakness may disappear completely so that medications can be discontinued. Stable, long-lasting complete remissions are the goal of thymectomy and may occur in about 50 percent of individuals who undergo this procedure. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care.

World Alzheimer’s Day

World Alzheimer’s Day, September 21st of each year, is a day on which Alzheimer’s organizations around the world concentrate their efforts on raising awareness about Alzheimer’s and dementia. Alzheimer’s disease is the most common form of dementia, a group of disorders that impairs mental functioning.

Every 68 seconds, someone develops Alzheimer’s disease. At current rates, experts believe the number of Americans living with Alzheimer’s will quadruple to as many as 16 million by the year 2050.

Alzheimer’s disease is often called a family disease, because the chronic stress of watching a loved one slowly decline affects everyone. 5.4 million Americans are living with Alzheimer’s. Alzheimer’s disease is the sixth-leading cause of death in the United States and the only cause of death among the top 10 in the United States that cannot be prevented, cured or even slowed. With the increases in life spans and baby boomers coming of age, support for Alzheimer’s research is more critical to our families than ever.

Steinert’s Disease/Myotonic Dystrophy

What is myotonic dystrophy?
Myotonic dystrophy is an autosomal dominant inherited disease characterized by wasting of the muscles (muscular dystrophy), myotonia and multisystemic conditions. Myotonic dystrophy is one of the most common neuromuscular diseases in adults. Its prevalence rate is five cases out of 100,000 inhabitants.

What are the clinical signs?
Two major clinical forms can be distinguished, although both due to defects of the same gene.

The common form in adults, which combines:

  • Progressive muscular dystrophy (weakness and atrophy);
  • Myotonia: delayed relaxation of a muscle after an initial contraction (for example difficulty to release grip after shaking hands);
  • Defects in other organs: eye (cataracts in nearly all patients aged 40 and more), nervous system (sleep, cognitive function, or mood disorders), heart (heart rhythm disorders and/or conduction disturbances sometimes causing sudden death), respiratory system (pneumopathies), digestive system, endocrinal glands.

The severity of the disease depends upon the age of onset, clinical signs and progression.

The congenital form combines a clinical picture of neonatal hypotonia and severe acute respiratory distress. If the child survives, the disease progresses to become a disabling condition, especially at the intellectual level. Its exclusive maternal transmission pattern is still not clearly understood.

What is the cause?
Myotonic dystrophy is an autosomal dominant inherited disease. There is a 50-50 chance that affected parents will transmit the disease to any of their children. The myotonic dystrophy gene has now been located and identified precisely (chromosome 19). It codes for a protein kinase called myotonine, the function of which remains unclear. The peculiar type of the genetic defect may partially explain the anticipation phenomenon; the severity of symptoms increases as the disease is passed on to the next generation.

Fryns Syndrome

Fryns syndrome is an extremely rare inherited disorder characterized by multiple abnormalities that are present at birth (congenital). Characteristic symptoms and physical findings include protrusion of part of the stomach and/or small intestines into the chest cavity (diaphragmatic hernia), abnormalities of the head and face area (craniofacial region), and underdevelopment of the ends of the fingers and toes (distal digit hypoplasia). Additional symptoms include underdevelopment (hypoplasia) of the lungs, incomplete closure of the roof of the mouth (cleft palate), cardiac defects, and varying degrees of mental retardation. Fryns syndrome is inherited as an autosomal recessive trait.

Symptoms
Fryns syndrome is associated with numerous abnormalities of varying severity such as protrusion of part of the stomach and/or small intestines into the chest cavity (diaphragmatic hernia), unusual facial features, and abnormalities of the fingers and toes. The number and severity of symptoms and physical findings will vary greatly from case to case.

Some symptoms such as diaphragmatic hernia, underdevelopment of the lungs, and cardiac defects may result in life-threatening complications during the newborn (neonatal) period.

Approximately 89 percent of all infants with Fryns syndrome have diaphragmatic hernia of varying degrees of severity. Lung hypoplasia and deformity of the lobes of the lungs also occurs in most cases. In some cases, affected infants may also have an abnormally small upper chest (thorax) and abnormal accumulation of milky fluid (chyle) in the thorax (chylothorax). Cases of Fryns syndrome in which affected infants do not have diaphragmatic hernia are considered less severe.

Infants with Fryns syndrome also have characteristic facial features that give the face a coarse appearance. These features include an abnormally small jaw (micrognathia) that may be displaced father back than normal (retrognathia); a broad, flat nasal bridge; an abnormally wide mouth (macrostomia); and incomplete closure of the roof of the mouth (cleft palate). In addition, affected infants may also have cloudy lenses of the eyes (corneal clouding); malformation (dysplasia) of the outer ears (pinnae) with underdeveloped lobes; an abnormal groove in the upper lip (cleft lip); a large, upturned nose; and a short, broad neck.

Another characteristic symptom of Fryns syndrome is underdevelopment of the tips of the fingers and toes (distal digit or acral hypoplasia). Affected infants may have underdeveloped or absent nails, abnormally short bones in the tips of the fingers and toes (terminal phalanges), and permanently flexed fingers (camptodactyly).

Affected infants may also have various abnormalities affecting the central nervous system. In approximately 50 percent of cases, Dandy-Walker malformation may be present. Dandy-Walker malformation is a rare malformation of the brain characterized by an abnormally enlarged space at the back of the brain (cystic 4th ventricle) that interferes with the normal flow of cerebrospinal fluid through the openings between the ventricle and other parts of the brain. In many cases, an abnormal cystic growth consisting of dilated lymph vessels beneath the skin in the neck area (cystic hygroma) may be present. Affected infants may also exhibit absence of the thick band of nerve fibers that connects the left and right hemispheres of the brain (agenesis of the corpus callosum), accumulation of excessive cerebrospinal fluid in the skull (hydrocephalus), and absence of a structure of the brain (rhinecephalon) associated with the sense of smell (arrhinencephaly). For more information on these disorders, choose “Hydrocephalus” “Dandy Walker” and “Agenesis of Corpus Callosum” as your search terms in the Rare Disease Database.)

Approximately 55 percent of infants with Fryns syndrome exhibit congenital heart (cardiac) defects including atrial and ventricular septal defects (VSDs and ASDs). These septal defects are the most common structural heart defects. ASDs are characterized by an abnormal opening in the fibrous partition (septum) that separates the two upper chambers (atria) of the heart. VSDs are characterized by an abnormal opening in the septum that divides the heart’s two lower chambers (ventricles).

Skeletal abnormalities may be present in some infants with Fryns syndrome including abnormal side-to-side curvature of the spine (scoliosis), extra ribs, and (osteochondrodysplasia).

Some infants with Fryns syndrome may have abnormalities of the genitourinary system. Females may exhibit malformation of the uterus with unusual “horn-shaped” branches (bicornuate uterus) and underdeveloped ovaries. Males may experience failure of one or both testes to descend into the scrotum (cryptorchidism) and placement of the urinary opening on the underside of the penis (hypospadias). Kidney (renal) abnormalities may also be present including cysts in the kidneys and malformation (dysplasia) of the kidneys.

Digestive abnormalities secondary to diaphragmatic hernia may also occur in some infants with Fryns syndrome including twisting (malrotation) of the intestines, protrusion of part of the intestines through an abnormal opening near the umbilical cord (omphalocele), esophageal atresia, and/or imperforate anus. Esophageal atresia is a condition in which the tube that carries food from the mouth to the stomach (esophagus) ends in a pouch instead of connecting to the stomach. Imperforate anus is a rare condition in which a thin covering (membrane) blocks the anal opening or the passage that connects the anus and the lowest part of the large intestine (rectum) fails to develop.

Causes
Fryns syndrome is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In recessive disorders, the condition does not occur unless an individual inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Parents of several individuals with the disorder have been closely related (consanguineous). If both parents carry the same disease gene, then there is a higher-than-normal risk that there children may inherit the two genes necessary for the development of the disorder.

Muscle-Eye-Brain Disease

What is Muscle-Eye-Brain Disease?
Muscle-eye-brain disease (MEB) is an inherited condition causing a number of symptoms including muscle weakness, vision abnormalities, brain structure abnormalities, and severe mental disability.MEB causes congenital muscular dystrophy, a form of muscle weakness that is present from birth or develops shortly after birth. It causes an infant to feel floppy in all of his or her muscles, including those of the face. He or she may also exhibit involuntary muscle jerks or twitches.Eye problems associated with MEB include severe near-sightedness and glaucoma, among others.Another hallmark of MEB is a brain abnormality known as cobblestone lissencephaly (or type II lissencephaly). The brain develops a bumpy “cobblestone” appearance and lacks the normal folding structure. Other structural changes in the brain are also present. Children with MEB may have a buildup of fluid around the brain that can create a dangerous amount of pressure.The severity of symptoms can vary among people with MEB.

How Common is Muscle-Eye-Brain Disease?
MEB is very rare, although its exact prevalence is unknown.

How is Muscle-Eye-Brain Disease Treated?
There is no successful treatment or cure for MEB. Medical specialists can help treat specific symptoms, such as using medication to control seizures, physical and occupational therapy to aid in movement, and special eye glasses to help make the most of the child’s vision.

What is the Prognosis for a Person With Muscle-Eye-Brain Disease?
The prognosis for a person with MEB varies depending on the severity of the symptoms, but is generally poor. Studies have shown people with MEB typically die between the ages of 6 and 16.

Resources
Muscular Dystrophy Association
A non-profit organization that supports research into and education about neuromuscular diseases. It is best known for its annual telethon led by entertainer Jerry Lewis.

  • 3300 East Sunrise Drive
    Tucson, AZ 85718
  • Phone: (800) 572-1717
  • Secondary Phone: (520) 529-2000
  • mda@mdausa.org

Lewy Body Dementia

 Lewy Body Dementia

What Is LBD?

LBD is not a rare disease. It affects an estimated 1.3 million individuals and their families in the United States. Because LBD symptoms can closely resemble other more commonly known diseases like Alzheimer’s and Parkinson’s, it is currently widely underdiagnosed. Many doctors or other medical professionals still are not familiar with LBD.LBD is an umbrella term for two related diagnoses. LBD refers to both Parkinson’s disease dementia and dementia with Lewy bodies. The earliest symptoms of these two diseases differ, but reflect the same underlying biological changes in the brain. Over time, people with both diagnoses will develop very similar cognitive, physical, sleep, and behavioral symptoms.While it may take more than a year or two for enough symptoms to develop for a doctor to diagnose LBD, it is critical to pursue a formal diagnosis. Early diagnosis allows for important early treatment that may extend quality of life and independence.LBD is a multisystem disease and typically requires a comprehensive treatment approach. This approach involves a team of physicians from different specialties who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms. Many people with LBD enjoy significant improvement of their symptoms with a comprehensive approach to treatment, and some can have remarkably little change from year to year.Some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Who was Lewy?
In the early 1900s, while researching Parkinson’s disease, the scientist Friederich H. Lewy discovered abnormal protein deposits that disrupt the brain’s normal functioning. These Lewy body proteins are found in an area of the brain stem where they deplete the neurotransmitter dopamine, causing Parkinsonian symptoms. In Lewy body dementia, these abnormal proteins are diffuse throughout other areas of the brain, including the cerebral cortex. The brain chemical acetylcholine is depleted, causing disruption of perception, thinking and behavior. Lewy body dementia exists either in pure form, or in conjunction with other brain changes, including those typically seen in Alzheimer’s disease and Parkinson’s disease.

Early and accurate diagnosis of LBD, while not always easy to do, is of critical importance for two reasons.

  • First, people with LBD may respond more favorably to certain dementia medications than people with Alzheimer’s, allowing for early treatment that may improve or extend the quality of life for both the person with LBD and their caregiver.
  • Secondly, many people with LBD respond more poorly to certain medications for behavior and movement than people with Alzheimer’s or Parkinson’s, sometimes with dangerous or permanent side effects.

By learning about common forms of dementia, you can help your physician most quickly identify what type of dementia has developed.

Common Forms of Dementia

Alzheimer’s disease symptoms include a progressive loss of recent memory; problems with language, calculation, abstract thinking, and judgment; depression or anxiety; personality and behavioral changes; and disorientation to time and place.

Lewy body dementia (LBD) is an umbrella term for a form of dementia that has three common presentations.

  • Some individuals will start out with a memory or cognitive disorder that may resemble Alzheimer’s disease, but over time two or more distinctive features become apparent leading to the diagnosis of ‘dementia with Lewy bodies’ (DLB). Symptoms that differentiate it from Alzheimer’s include unpredictable levels of cognitive ability, attention or alertness, changes in walking or movement, visual hallucinations, a sleep disorder called REM sleep behavior disorder, in which people physically act out their dreams, and severe sensitivity to medications for hallucinations. In some cases, the sleep disorder can precede the dementia and other symptoms of LBD by decades.
  • Others will start out with a movement disorder leading to the diagnosis of Parkinson’s disease and later develop dementia and other symptoms common in DLB.
  • Lastly, a small group will first present with neuropsychiatric symptoms, which can include hallucinations, behavioral problems, and difficulty with complex mental activities, leading to an initial diagnosis of DLB.

Regardless of the initial symptom, over time all three presentations of LBD will develop very similar cognitive, physical, sleep and behavioral features, all caused by the presence of Lewy bodies throughout the brain.

Vascular dementia is caused by a series of small strokes that deprive the brain of vital oxygen. Symptoms, such as disorientation in familiar locations; walking with rapid, shuffling steps; incontinence; laughing or crying inappropriately; difficulty following instructions; and problems handling money may appear suddenly and worsen with additional strokes. High blood pressure, cigarette smoking, and high cholesterol are some of the risk factors for stroke that may be controlled to prevent vascular dementia.

Frontotemporal dementia (FTD) includes several disorders with a variety of symptoms. The most common signs of FTD include changes in personality and behavior, such as inappropriate or compulsive behavior, euphoria, apathy, decline in personal hygiene, and a lack of awareness concerning these changes. Some forms of FTD involve language and speech symptoms or movement changes.

An experienced clinician within the medical community should perform a diagnostic evaluation. If one is not available, the neurology department of the nearest medical university should be able to recommend appropriate resources or may even provide an experienced diagnostic team skilled in Lewy body dementia.

A thorough dementia diagnostic evaluation includes physical and neurological examinations, patient and family interviews (including a detailed lifestyle and medical history), and neuro-psychological and mental status tests. The patient’s functional ability, attention, language, visuospatial skills, memory and executive functioning are assessed. In addition, brain imaging (CT or MRI scans), blood tests and other laboratory studies may be performed. The evaluation will provide a clinical diagnosis. Currently, a conclusive diagnosis of LBD can be obtained only from a postmortem autopsy for which arrangements should be made in advance. Some research studies may offer brain autopsies as part of their protocols. Participating in research studies is a good way to benefit others with Lewy body dementia.

Medications
Medications are one of the most controversial subjects in dealing with LBD. A medication that doesn’t work for one person may work for another person.

Prescribing should only be done by a physician who is thoroughly knowledgeable about LBD. With new medications and even ‘over-the-counter,’ the patient should be closely monitored. At the first sign of an adverse reaction, consult with the patient’s physician. Consider joining an online caregiver support group to see what others have observed with prescription and over-the-counter medicines.

Risk Factors
Advanced age is considered to be the greatest risk factor for Lewy body dementia, with onset typically, but not always, between the ages of 50 and 85. Some cases have been reported much earlier. It appears to affect slightly more men than women. Having a family member with Lewy body dementia may increase a person’s risk. Observational studies suggest that adopting a healthy lifestyle (exercise, mental stimulation, nutrition) might delay age-associated dementias.

Clinical Trials
The recruitment of LBD patients for participation in clinical trials for studies on LBD, other dementias and Parkinsonian studies is now steadily increasing.

Prognosis and Stages
No cure or definitive treatment for Lewy body dementia has been discovered as yet. The disease has an average duration of 5 to 7 years. It is possible, though, for the time span to be anywhere from 2 to 20 years, depending on several factors, including the person’s overall health, age and severity of symptoms.

Defining the stages of disease progression for LBD is difficult. The symptoms, medicine management and duration of LBD vary greatly from person to person. To further complicate the stages assessment, LBD has a progressive but vacillating clinical course, and one of its defining symptoms is fluctuating levels of cognitive abilities, alertness and attention. Sudden decline is often caused by medications, infections or other compromises to the immune system and usually the person with LBD returns to their baseline upon resolution of the problem.  But for some individuals, it may also be due to the natural course of the disease.

Symptoms

Lewy body dementia symptoms and diagnostic criteria
Every person with LBD is different and will manifest different degrees of the following symptoms. Some will show no signs of certain features, especially in the early stages of the disease. Symptoms may fluctuate as often as moment-to-moment, hour-to-hour or day-to-day. NOTE: Some patients meet the criteria for LBD yet score in the normal range of some cognitive assessment tools. The Mini-Mental State Examination (MMSE), for example, cannot be relied upon to distinguish LBD from other common syndromes.

LBD is a an umbrella term for two related clinical diagnoses, dementia with Lewy bodies and Parkinson’s disease dementia.

The latest clinical diagnostic criteria for dementia with Lewy bodies (DLB) categorizes symptoms into three types, listed below.  A diagnosis of Parkinsons’ disease dementia (PDD) requires a well established diagnosis of Parkinson’s disease that later progresses into dementia, along with very similar features to DLB.  A rather arbirary time cutoff was established to differentiate between DLB and PDD.  People whose dementia occurs before or within 1 year of Parkinson’s symptoms are diagnosed with DLB.  People who have an existing diagnosis of Parkinson’s for more than a year and later develop dementia are diagnosed with PDD.

Central feature

  • Progressive dementia – deficits in attention and executive function are typical. Prominent memory impairment may not be evident in the early stages.

Core features

  • Fluctuating cognition with pronounced variations in attention and alertness.
  • Recurrent complex visual hallucinations, typically well formed and detailed.
  • Spontaneous features of parkinsonism.

Suggestive features

  • REM sleep behavior disorder (RBD), which can appear years before the onset of dementia and parkinsonism.
  • Severe sensitivity to neuroleptics occurs in up to 50% of LBD patients who take them.
  • Low dopamine transporter uptake in the brain’s basal ganglia as seen on SPECT and PET imaging scans. (These scans are not yet available outside of research settings.)

Supportive features

  • Repeated falls and syncope (fainting).
  • Transient, unexplained loss of consciousness.
  • Autonomic dysfunction.
  • Hallucinations of other senses, like touch or hearing.
  • Visuospatial abnormalities.
  • Other psychiatric disturbances.

A clinical diagnosis of LBD can be probable or possible based on different symptom combinations.

A probable LBD diagnosis requires either:

  • Dementia plus two or more core features, or
  • Dementia plus one core feature and one or more suggestive features.

A possible LBD diagnosis requires:

  • Dementia plus one core feature, or
  • Dementia plus one or more suggestive features.

Symptoms Explained
In this section we’ll discuss each of the symptoms, starting with the key word: dementia. Dementia is a process whereby the person becomes progressively confused. The earliest signs are usually memory problems, changes in their way of speaking, such as forgetting words, and personality problems. Cognitive symptoms of dementia include poor problem solving, difficulty with learning new skills and impaired decision making.

Other causes of dementia should be ruled out first, such as alcoholism, overuse of medication, thyroid or metabolic problems. Strokes can also cause dementia. If these reasons are ruled out then the person is said to have a degenerative dementia. Lewy Body Dementia is second only to Alzheimer’s disease as the most common form of dementia.

Fluctuations in cognition will be noticeable to those who are close to the person with LBD, such as their partner. At times the person will be alert and then suddenly have acute episodes of confusion. These may last hours or days. Because of these fluctuations, it is not uncommon for it to be thought that the person is “faking”. This fluctuation is not related to the well-known “sundowning” of Alzheimer’s. In other words, there is no specific time of day when confusion can be seen to occur.

Hallucinations are usually, but not always, visual and often are more pronounced when the person is most confused. They are not necessarily frightening to the person. Other modalities of hallucinations include sound, taste, smell, and touch.

Parkinsonism or Parkinson’s Disease symptoms, take the form of changes in gait; the person may shuffle or walk stiffly. There may also be frequent falls. Body stiffness in the arms or legs, or tremors may also occur. Parkinson’s mask (blank stare, emotionless look on face), stooped posture, drooling and runny nose may be present.

REM Sleep Behavior Disorder (RBD) is often noted in persons with Lewy Body Dementia. During periods of REM sleep, the person will move, gesture and/or speak. There may be more pronounced confusion between the dream and waking reality when the person awakens. RBD may actually be the earliest symptom of LBD in some patients, and is now considered a significant risk factor for developing LBD. (One recent study found that nearly two-thirds of patients diagnosed with RBD developed degenerative brain diseases, including Lewy body dementia, Parkinson’s disease, and multiple system atrophy, after an average of 11 years of receiving an RBD diagnosis. All three diseases are called synucleinopathies, due to the presence of a mis-folded protein in the brain called alpha-synuclein.)

Sensitivity to neuroleptic (anti-psychotic) drugs is another significant symptom that may occur. These medications can worsen the Parkinsonism and/or decrease the cognition and/or increase the hallucinations. Neuroleptic Malignancy Syndrome, a life-threatening illness, has been reported in persons with Lewy Body Dementia. For this reason, it is very important that the proper diagnosis is made and that healthcare providers are educated about the disease.

Other Symptoms
Visuospatial difficulties, including depth perception, object orientation, directional sense and illusions may occur.

Autonomic dysfunction, including blood pressure fluctuations (e.g. postural/orthostatic hypotension) heart rate variability (HRV), sexual disturbances/impotence, constipation, urinary problems, hyperhidrosis (excessive sweating), decreased sweating/heat intolerance, syncope (fainting), dry eyes/mouth, and difficulty swallowing which may lead to aspiration pneumonia.

Other psychiatric disturbances may include systematized delusions, aggression and depression. The onset of aggression in LBD may have a variety of causes, including infections (e.g., UTI), medications, misinterpretation of the environment or personal interactions, and the natural progression of the disease.

Treatment Options

LBD is a multi-system disease and typically requires a comprehensive treatment approach, meaning a team of physicians from different specialties, who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms.  It is important to remember that some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Cognitive Symptoms
Medications called cholinesterase inhibitors are considered the standard treatment for cognitive symptoms in LBD. These medications were developed to treat Alzheimer’s disease. However, some researchers believe that people with LBD may be even more responsive to these types of medications than those with Alzheimer’s.

Movement Symptoms
Movement symptoms may be treated with a Parkinson’s medication called levodopa, but if the symptoms are mild, it may be best to not treat them in order to avoid potential medication side-effects.

Visual Hallucinations
If hallucinations are disruptive or upsetting, your physician may recommend a cautious trial of a newer antipsychotic medication. (Please see WARNING below.)  Of note, the dementia medications called cholinesterase inhibitors have also been shown to be effective in treating hallucinations and other psychiatric symptoms of LBD.

REM Sleep Behavior Disorder (RBD)
RBD can be quite responsive to treatment, so your physician may recommend a medication like melatonin and/or clonazepam.

Neuroleptic Sensitivity
Severe sensitivity to neuroleptics is common in LBD. Neuroleptics, also known as antipsychotics, are medications used to treat hallucinations or other serious mental disorders. While traditional antipsychotic medications (e.g. haloperidol) are commonly prescribed for individuals with Alzheimer’s with disruptive behavior, these medications can affect the brain of an individual with LBD differently, sometimes causing severe side effects (see below). For this reason, traditional antipsychotic medications like haloperidol should be avoided. Some newer ‘atypical’ antipsychotic medications like risperidone may also be problematic for someone with LBD. Quetiapine is preferred by some LBD experts. If quetiapine is not tolerated or is not helpful, clozapine should be considered, but requires ongoing blood tests to assure a rare but serious blood condition does not develop. Hallucinations must be treated very conservatively, using the lowest doses possible under careful observation for side effects.

WARNING:
Up to 50% of patients with LBD who are treated with any antipsychotic medication may experience severe neuroleptic sensitivity, such as worsening cognition, heavy sedation, increased or possibly irreversible parkinsonism, or symptoms resembling neuroleptic malignant syndrome (NMS), which can be fatal. (NMS causes severe fever, muscle rigidity and breakdown that can lead to kidney failure.)

Medication Side Effects
Speak with your doctor about possible side effects. The following drugs may cause sedation, motor impairment or confusion:

  • Benzodiazepines, tranquilizers like diazepam and lorazepam
  • Anticholinergics (antispasmodics), such as oxybutynin and glycopyrrolate
  • Some surgical anesthetics
  • Older antidepressants
  • Certain over-the-counter medications, including diphenhydramine and dimenhydrinate.
  • Some medications, like anticholinergics, amantadine and dopamine agonists, which help relieve parkinsonian symptoms, might increase confusion, delusions or hallucinations.

NOTE: Be sure to meet with your anesthesiologist in advance of any surgery to discuss medication sensitivities and risks unique to LBD. People with LBD often respond to certain anesthetics and surgery with acute states of confusion or delirium and may have a sudden significant drop in functional abilities, which may or may not be permanent.

Possible alternatives to general anesthesia include a spinal or regional block. These methods are less likely to result in postoperative confusion. If you are told to stop taking all medications prior to surgery, consult with your doctor to develop a plan for careful withdrawal.

Non-Medical Treatments

Physical therapy options include cardiovascular, strengthening, and flexibility exercises, as well as gait training. Physicians may also recommend general physical fitness programs such as aerobic, strengthening, or water exercise.

Speech therapy may be helpful for low voice volume and poor enunciation. Speech therapy may also improve muscular strength and swallowing difficulties.

Occupational therapy may help maintain skills and promote function and independence. In addition to these forms of therapy and treatment, music and aroma therapy can also reduce anxiety and improve mood.

Individual and family psychotherapy can be useful for learning strategies to manage emotional and behavioral symptoms and to help make plans that address individual and family concerns about the future.

Support groups may be helpful for caregivers and persons with LBD to identify practical solutions to day-to-day frustrations, and to obtain emotional support from others.

End-of-Life
Planning for the end of life can be a valuable activity for any family. The links below offer general guidance and some specific suggestions for families who face the burden of a disease such as Lewy body dementia.

Advanced Directives – a Caring Connections site with state-specific advanced directives

Caring Connections – home page of consumer Web site about hospice and palliative care managed by the National Hospice and Palliative Care Organization

Palliative Doctors – a Web site for consumers managed by the American Academy of Hospice and Palliative Care about palliative care

Ice Bucket Challenge: Raising Money and Awareness for ALS

Perhaps you’ve seen it online, on your Facebook feed, or across popular morning shows in recent days – the ice bucket challenge! Individuals are taking to media, volunteering to have buckets of ice water poured over their heads to raise money and awareness for ALS, also known as Lou Gehrig’s Disease.

What is ALS?
ALS stands for Amyotrophic Lateral Sclerosis (ALS), but is more commonly referred to as “Lou Gehrig’s Disease.” The disease is characterized by the ALS Association as neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Individuals living with ALS suffer from degenerative loss of motor skills, muscle loss, and can even lead to total paralysis.

Some early symptoms can include increasing muscle weakness, especially in the arms and legs, and loss of speech, difficulty swallowing or breathing. Learn more about the disease at www.alsa.org.

While there is currently no cure for ALS, the disease is 100% fatal. There is currently one medication and others in trial period that offer hope to those living with the disease and help slow down symptoms.

Who started the Ice Bucket Challenge?
The ice bucket challenge campaign was started by Pat Quinn, who became an ALS ambassador after being diagnosed with the disease himself. He got the idea from other similar “challenges” that people were doing and then posting online and recognized the power social media could have in spreading awareness and raising money for those living with the disease every day.

Since he kicked off the campaign, celebrities like Justin Timberlake, the cast of Good Morning America, Michael Strahan, Josh Ramsay, the Patriots and others have been challenging each other to “take the plunge” and spread the news.

How is the challenge impacting the Disability community?
Thanks to the ice bucket challenge, the ALS Association has reportedly received $4 million in donations between July 29 and August 12 and have welcomed more than 70,000 new donors! Contributions will go towards finding a cure for ALS while funding the highest quality of care for people living with the disease.

The ALS community is hoping the increased awareness and funds could lead to a new breakthrough in fighting for the cause. Even those who are not able to donate have helped raise awareness which could potentially help groups like the ALS Association expedite the extensive collaboration required between individuals, medical institutions, and testing labs which could help lead to a potential cure for the disease and help improve the quality of life for those living with it.