Tag Archives: Children

Friedreich’s Ataxia

Friedreich’s ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.

In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).

Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.

What are the signs and symptoms?
Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.

Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreich’s ataxia develop hearing and vision loss.

Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich’s ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.

About 20 percent of people with Friedreich’s ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreich’s ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.

The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated.

Friedreich’s ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich’s ataxia live into their sixties, seventies, or older.

How is Friedreich’s ataxia diagnosed?
A diagnosis of Friedreich’s ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. Other tests that may aid in the diagnosis or management of the disorder include:

  • electromyogram (EMG), which measures the electrical activity of muscle cells,
  • nerve conduction studies, which measure the speed with which nerves transmit impulses,
  • electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart,
  • echocardiogram, which records the position and motion of the heart muscle,
  • blood tests to check for elevated glucose levels and vitamin E levels, and
  • magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions.

How is Friedreich’s ataxia inherited?
Friedreich’s ataxia is an autosomal recessive disease, meaning individuals only develop symptoms if they inherit two copies of the defective FXN gene, one from their father and one from their mother. A person who has only one abnormal copy of the gene is called a carrier. A carrier will not develop the disease but could pass the gene mutation on to his or her children. If both parents are carriers, their children will have a 1 in 4 chance of having the disease and a 1 in 2 chance of inheriting one abnormal gene that they, in turn, could pass on to their children. About one in 90 Americans of European ancestry carries an abnormal FXN gene.

In 1996, an international research team identified the Friedreich’s ataxia gene on chromosome 9. The FXN gene codes for production of a protein called “frataxin.” In the normal version of the gene, a sequence of DNA (labeled “GAA”) is repeated between 7 and 22 times. In the defective FXN gene, the repeat occurs over and over again—hundreds, even up to a thousand times.

This abnormal pattern, called a triplet repeat expansion, has been implicated as the cause of several dominantly inherited diseases, but Friedreich’s ataxia is the only known recessive genetic disorder caused by the problem. Almost all people with Friedreich’s ataxia have two copies of this mutant form of FXN, but it is not found in all cases of the disease. About two percent of affected individuals have other defects in the FXN gene that are responsible for causing the disease.

The triplet repeat expansion greatly disrupts the normal production of frataxin. Frataxin is found in the energy-producing parts of the cell called mitochondria. Research suggests that without a normal level of frataxin, certain cells in the body (especially peripheral nerve, spinal cord, brain and heart muscle cells) cannot effectively produce energy and have been hypothesized to have a buildup of toxic byproducts leading to what is called “oxidative stress.” It also may lead to increased levels of iron in the mitochondria. When the excess iron reacts with oxygen, free radicals can be produced. Although free radicals are essential molecules in the body’s metabolism, they can also destroy cells and harm the body. Research continues on this subject (see section on “What research is being done?”).

Can Friedreich’s ataxia be cured or treated?
As with many degenerative diseases of the nervous system, there is currently no cure or effective treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Doctors can prescribe treatments for diabetes, if present; some of the heart problems can be treated with medication as well. Orthopedic problems such as foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy may prolong use of the arms and legs. Advances in understanding the genetics of Friedreich’s ataxia are leading to breakthroughs in treatment. Research has moved forward to the point where clinical trials of proposed treatments are presently occurring for Friedreich’s ataxia.

What services are useful to Friedreich’s ataxia patients and their families?
Genetic testing is essential for proper clinical diagnosis, and can aid in prenatal diagnosis and determining a person’s carrier status. Genetic counselors can help explain how Friedreich’s ataxia is inherited. Psychological counseling and support groups for people with genetic diseases may also help affected individuals and their families cope with the disease.

A primary care physician can screen people for complications such as heart disease, diabetes and scoliosis, and can refer individuals to specialists such as cardiologists, physical therapists, and speech therapists to help deal with some of the other associated problems.

Support and information for families is also available through a number of private organizations. These groups can offer ways to network and communicate with others affected by Friedreich’s ataxia. They can also provide access to patient registries, clinical trials information, and other useful resources.

What research is being done?
Within the Federal government the National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), has primary responsibility for sponsoring research on neurological disorders. As part of this mission, the NINDS conducts research on Friedreich’s ataxia and other forms of inherited ataxias at its facilities at the NIH and supports additional studies at medical centers throughout the United States. Several nonprofit organizations also provide substantial support research (see the section on “Where can I get more information?”).

Researchers are optimistic that they have begun to understand the causes of the disease, and work has begun to develop effective treatments and prevention strategies for Friedreich’s ataxia. Scientists have been able to create various models of the disease in yeast and mice which have facilitated understanding the cause of the disease and are now being used for drug discovery and the development of novel treatments.

Studies have revealed that frataxin is an important mitochondrial protein for proper function of several organs. Yet in people with the disease, the amount of frataxin in affected cells is severely reduced. It is believed that the loss of frataxin makes the nervous system, heart, and pancreas particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen). Once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to this damage. Free radicals have been implicated in other degenerative diseases such as Parkinson’s and Alzheimer’s diseases.

Based upon this information, scientists and physicians have tried to reduce the levels of free radicals, also called oxidants, using treatment with “antioxidants.” Initial clinical studies in Europe suggested that antioxidants like coenzyme Q10, vitamin E, and idebenone may offer individuals some limited benefit. However, recent clinical trials in the United States and Europe have not revealed effectiveness of idebenone in people with Friedreich’s ataxia, but more powerful modified forms of this agent and other antioxidants are in trials at this time. There is also a clinical trial to examine the efficacy of selectively removing excess iron from the mitochondria.

Scientists also are exploring ways to increase frataxin levels through drug treatments, genetic engineering and protein delivery systems. Several compounds that are directed at increasing levels of frataxin may be brought to clinical trials in the near future. To check for current trials, visit http://www.clinicaltrials.gov. Additional information is available from the groups listed in the following section.

Armed with what they currently know about frataxin and Friedreich’s ataxia, scientists are working to better define fraxatin’s role, clarify how defects in iron metabolism may be involved in the disease process, and explore new therapeutic approaches for therapy.

Greater Bridgewater Women of Today Touch A Truck Event

Greater Bridgewater Women of Today Touch a Truck

Join Greater Bridgewater Women of Today for their Touch-A-Truck event hosted at Sullivan Tire (Rte.18) in Bridgewater on Sunday, October 25 from 11-2 PM weather permitting. The cost will be $3 per family with a maximum cost of $15 per family. There will be tons of trucks for the children to touch and explore! Children are encouraged to wear their costumes and there will be candy to collect at each truck. There will be face painting, giveaways, games and more! Grilled burgers and hot dogs will be available for purchase. GBWOT would like to thank the sponsors of this event: Sullivan Tire, Crocetti’s Market, Prisco’s Market, and Wheel House Real Estate.

Magic Wheelchair

Magic Wheelchair

Magic Wheelchair is a nonprofit organization that makes epic Halloween costumes for children in wheelchairs.

Their vision is to put a smile on the face of every child in a wheelchair by transforming their wheelchairs into awesomeness created by their hands and their imaginations.

Their mission is to give kids in wheelchairs an unforgettable Halloween by creating custom costumes for them at no expense to their families

Kids, with their parents’ permission can submit a 1-3 minute video telling them what they want to be for Halloween and why they should be selected for this year’s Magic Wheelchair Build. They will review the submissions and select 5 children, who will then work with designers and builders to create the ultimate wheelchair costume in time for Halloween!

Being in a wheelchair can be tough, so they want to help kids make something truly epic. To do that requires time, money and the support of people like you. But when they’re done, they will change the life of a young wheelchair rider. See some of the costumes here.or check out their Pinterest account.

For more information about Magic Wheelchair you can visit their website or their Facebook Page.

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

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.

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.

 

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.

Purple Up For Military Kids!

Purple Up For Military Kids!

April is Month of the Military Child, a time to recognize the sacrifices made by military families and their children. On April 15 you can wear purple to show your support for our military families.

Wearing the color purple is a visible way to show support and thank military youth for their strength and sacrifices. Why purple? Purple is the color that symbolizes all branches of the military, as it is a combination of Army green, Marine red, and Coast Guard, Air Force, and Navy blue.

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.

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.

Rye’s Syndrome Awareness

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.

The American Legion Riders “Legacy Run” is Tomorrow!

AMERICAN LEGION RIDERS "LEGACY RUN", CHAPTER 18

“The Legacy Fund” is a charitable Veterans Fund used to ensure that higher education is a possibility fir children whos parents were killed in action serving our country
Walk, Run and or wheel in! Everyone is Welcome
$15.00 per person

Registration
9:30 – 10:30am

Blessing:
10:30am

Kickstands Up:
11:00am

Escorted Ride over beautiful secondary roads
Arriving back to the Legion for a fabulous Catered Buffet (Marion Roy)
Live Music – Great Raffles – and Fun

Sponsors & Vendors are Welcome.
Lynn’s Alterations will be there to sew your leathers, patches or sell you new ones!

Contact:
Jeri Rumsis 508 337 9344

Friedreich’s Ataxia

Friedreich’s ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.

In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).

Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.

What are the signs and symptoms?
Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.

Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreich’s ataxia develop hearing and vision loss.

Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich’s ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.

About 20 percent of people with Friedreich’s ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreich’s ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.

The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated.

Friedreich’s ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich’s ataxia live into their sixties, seventies, or older.

How is Friedreich’s ataxia diagnosed?
A diagnosis of Friedreich’s ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. Other tests that may aid in the diagnosis or management of the disorder include:

  • electromyogram (EMG), which measures the electrical activity of muscle cells,
  • nerve conduction studies, which measure the speed with which nerves transmit impulses,
  • electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart,
  • echocardiogram, which records the position and motion of the heart muscle,
  • blood tests to check for elevated glucose levels and vitamin E levels, and
  • magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions.

How is Friedreich’s ataxia inherited?
Friedreich’s ataxia is an autosomal recessive disease, meaning individuals only develop symptoms if they inherit two copies of the defective FXN gene, one from their father and one from their mother. A person who has only one abnormal copy of the gene is called a carrier. A carrier will not develop the disease but could pass the gene mutation on to his or her children. If both parents are carriers, their children will have a 1 in 4 chance of having the disease and a 1 in 2 chance of inheriting one abnormal gene that they, in turn, could pass on to their children. About one in 90 Americans of European ancestry carries an abnormal FXN gene.

In 1996, an international research team identified the Friedreich’s ataxia gene on chromosome 9. The FXN gene codes for production of a protein called “frataxin.” In the normal version of the gene, a sequence of DNA (labeled “GAA”) is repeated between 7 and 22 times. In the defective FXN gene, the repeat occurs over and over again—hundreds, even up to a thousand times.

This abnormal pattern, called a triplet repeat expansion, has been implicated as the cause of several dominantly inherited diseases, but Friedreich’s ataxia is the only known recessive genetic disorder caused by the problem. Almost all people with Friedreich’s ataxia have two copies of this mutant form of FXN, but it is not found in all cases of the disease. About two percent of affected individuals have other defects in the FXN gene that are responsible for causing the disease.

The triplet repeat expansion greatly disrupts the normal production of frataxin. Frataxin is found in the energy-producing parts of the cell called mitochondria. Research suggests that without a normal level of frataxin, certain cells in the body (especially peripheral nerve, spinal cord, brain and heart muscle cells) cannot effectively produce energy and have been hypothesized to have a buildup of toxic byproducts leading to what is called “oxidative stress.” It also may lead to increased levels of iron in the mitochondria. When the excess iron reacts with oxygen, free radicals can be produced. Although free radicals are essential molecules in the body’s metabolism, they can also destroy cells and harm the body. Research continues on this subject (see section on “What research is being done?”).

Can Friedreich’s ataxia be cured or treated?
As with many degenerative diseases of the nervous system, there is currently no cure or effective treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Doctors can prescribe treatments for diabetes, if present; some of the heart problems can be treated with medication as well. Orthopedic problems such as foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy may prolong use of the arms and legs. Advances in understanding the genetics of Friedreich’s ataxia are leading to breakthroughs in treatment. Research has moved forward to the point where clinical trials of proposed treatments are presently occurring for Friedreich’s ataxia.

What services are useful to Friedreich’s ataxia patients and their families?
Genetic testing is essential for proper clinical diagnosis, and can aid in prenatal diagnosis and determining a person’s carrier status. Genetic counselors can help explain how Friedreich’s ataxia is inherited. Psychological counseling and support groups for people with genetic diseases may also help affected individuals and their families cope with the disease.

A primary care physician can screen people for complications such as heart disease, diabetes and scoliosis, and can refer individuals to specialists such as cardiologists, physical therapists, and speech therapists to help deal with some of the other associated problems.

Support and information for families is also available through a number of private organizations. These groups can offer ways to network and communicate with others affected by Friedreich’s ataxia. They can also provide access to patient registries, clinical trials information, and other useful resources.

What research is being done?
Within the Federal government the National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), has primary responsibility for sponsoring research on neurological disorders. As part of this mission, the NINDS conducts research on Friedreich’s ataxia and other forms of inherited ataxias at its facilities at the NIH and supports additional studies at medical centers throughout the United States. Several nonprofit organizations also provide substantial support research (see the section on “Where can I get more information?”).

Researchers are optimistic that they have begun to understand the causes of the disease, and work has begun to develop effective treatments and prevention strategies for Friedreich’s ataxia. Scientists have been able to create various models of the disease in yeast and mice which have facilitated understanding the cause of the disease and are now being used for drug discovery and the development of novel treatments.

Studies have revealed that frataxin is an important mitochondrial protein for proper function of several organs. Yet in people with the disease, the amount of frataxin in affected cells is severely reduced. It is believed that the loss of frataxin makes the nervous system, heart, and pancreas particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen). Once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to this damage. Free radicals have been implicated in other degenerative diseases such as Parkinson’s and Alzheimer’s diseases.

Based upon this information, scientists and physicians have tried to reduce the levels of free radicals, also called oxidants, using treatment with “antioxidants.” Initial clinical studies in Europe suggested that antioxidants like coenzyme Q10, vitamin E, and idebenone may offer individuals some limited benefit. However, recent clinical trials in the United States and Europe have not revealed effectiveness of idebenone in people with Friedreich’s ataxia, but more powerful modified forms of this agent and other antioxidants are in trials at this time. There is also a clinical trial to examine the efficacy of selectively removing excess iron from the mitochondria.

Scientists also are exploring ways to increase frataxin levels through drug treatments, genetic engineering and protein delivery systems. Several compounds that are directed at increasing levels of frataxin may be brought to clinical trials in the near future. To check for current trials, visit http://www.clinicaltrials.gov. Additional information is available from the groups listed in the following section.

Armed with what they currently know about frataxin and Friedreich’s ataxia, scientists are working to better define fraxatin’s role, clarify how defects in iron metabolism may be involved in the disease process, and explore new therapeutic approaches for therapy.

How One Toys ‘R’ Us Trip Brought Mobility to Hundreds of Disabled Kids

These $200 alternatives to power wheelchairs are helping physically impaired kids get moving.

Cole Galloway’s workspace at the University of Delaware resembles a ransacked toy store. There are piles of plastic tubing, swim noodles, stuffed animals, and battery-powered Jeep and Barbie cars everywhere. But Galloway, 48, is a physical therapy professor and infant behavior expert whose lab has a very clear mission: to provide mobility to children with cognitive or physical disabilities.

Galloway started his infant behavior lab to study how children learn to move their bodies. He was particularly interested in finding ways to close what he calls “an exploration gap” — the difference between typically developing children and those who suffer from mobility issues due to conditions like cerebral palsy and Down syndrome. In 2007 Sunil Agrawal, a professor of mechanical engineering at the university, approached Galloway in a conversation he says went something like this: I’ve got small robots. You’ve got small babies. I wonder if we can do something together.

The two professors started building power mobility robots that let disabled children explore their surroundings with greater confidence and independence. But due to the cost and heft of the parts, their early vehicles cost tens of thousands of dollars and weighed up to 150 pounds, making them inaccessible to the families who needed them the most. Galloway’s solution to those problems came to him during a visit to Toys ‘R’ Us, where he saw he could shift his vision of “babies driving robots” to the lower tech “babies driving race cars.” It was then that Go Baby Go was born.

Unlike electric wheelchairs, which are usually reserved by kids above age three, Galloway’s cars can be used in the critical early years of development. He estimates that so far Go Baby Go has retrofitted an estimated 100 toy cars, a small dent for the more than half a million American children under the age of five who have mobility problems. To spread his mission, Galloway has traveled across the country, posted YouTube videos and spoken with dozens of parents. He hopes that others can learn from his work and build cars of their own: “If you’re not going to drop what you’re doing and come work for us, at least contact us — we’ll send you everything we have.”