Category Archives: information

Williams syndrome

Leave a reply

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.

Aging and Driving

Leave a reply

As we all age, changes occur in physical functioning, vision, perception, and processing abilities that could make driving unsafe. While changes are inevitable, they occur at different rates in each individual, and age alone is not a good indicator of driving skills. Most often these changes occur slowly over a long period of time, and the individual is able to compensate for minor deficits. If several skill areas are affected, or there is a sudden change in abilities due to illness or disease, driving may become impaired. An evaluation is recommended if you, or those who drive with you, notice any of the following warning signs.

Warning Signs:

  • Doesn’t observe signs, signals, or other traffic
  • Needs help or instructions from passengers
  • Slow or poor decisions
  • Easily frustrated or confused
  • Frequently gets lost, even in familiar areas
  • Inappropriate driving speeds (too fast or too slow)
  • Poor road position, or wide turns
  • Accidents or near misses

A driver rehabilitation specialist can provide a comprehensive evaluation and make recommendations regarding driving.

This assessment should include:

  • A review of medical history and medications
  • Functional ability
  • Vision
  • Perception
  • Reaction time
  • Behind-the-wheel evaluation

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

State Disability and Health Programs

Leave a reply

The Centers for Disease Control and Prevention’s (CDC) state-based disability and health programs inform policy and practice at the state level. These programs ensure that individuals with disabilities are included in ongoing state disease prevention, health promotion, and emergency response activities.

CDC supports 18 state-based programs to promote equity in health, prevent chronic disease, and increase the quality of life for people with disabilities. Each program customizes its activities to meet its state’s needs, which broadens expertise and information sharing among states.

The programs’ goals are to:

  • Enhance program infrastructure and capacity.
  • Improve state level surveillance and monitoring activities.
  • Increase awareness of health-related disability policy initiatives.
  • Increase health promotion opportunities for people with disabilities.
  • Improve access to health care services for people with disabilities.
  • Improve emergency preparedness for people with disabilities.
  • Effectively monitor and evaluate program activities.

The goals of the state disability and health programs align with those of Healthy People 2020 related to disability:

  • Removing barriers to participation in social, spiritual, recreational, community and civic activities.
  • Improving access to primary care, and health and wellness programs.
  • Identifying people with disabilities in data systems.
  • Increasing surveillance and health promotion programs.
  • Providing graduate-level courses in disability and health.

States funded by CDC for Disability and Health Programs:

  • Alabama
  • Alaska
  • Arkansas
  • Delaware
  • Florida
  • Illinois
  • Iowa
  • Massachusetts
  • Michigan
  • Montana
  • New Hampshire
  • New York
  • North Carolina
  • North Dakota
  • Ohio
  • Oregon
  • Rhode Island
  • South Carolina


Alabama
Program activities include:

  • Promoting inclusion of persons with disabilities in all aspects of policy development, planning, and execution of state based public health programs.
  • Using Federally Qualified Healthcare Centers to assist with capacity assessment of ability to meet the needs of those with disabilities and determine barriers to inclusiveness.
  • Increasing health promotion opportunities for persons with disabilities through adaptation of existing public health programs, such as Scale Back Alabama, and increasing the number of children with disabilities who participate in mainstream physical education and after-school programs.

 

Alaska
Program activities include:

  • Developing accurate and timely outreach for Alaskans experiencing disability and their care providers.
  • Building the capacity of a cross-agency disability advisory council that reviews and evaluates program activities, assists with sustainability plans, and provides recommendations for policy change.
  • Providing technical assistance, training, and other support for existing community-wide initiatives designed to improve the health of Alaskans experiencing disability.

The Alaska Disability and Health Program is a collaboration between the State of Alaska’s Department of Health and Social Services, Division of Public Health, Section of Women’s, Children’s, and Family Health and the Governor’s Council on Disabilities and Special Education, and is housed in the Division of Public Health.

 

Arkansas
Program activities include:

  • Enhancing program infrastructure and capacity through the expansion and support of an Advisory Board and increasing the representation of individuals with disabilities on public health program committees.
  • Improving state-level surveillance and monitoring by conducting a statewide needs assessment to look at the health status and access of people with disabilities, developing documents comparing demographics and health disparities of Arkansas and the U.S.
  • Increasing awareness of health-related disability policy initiatives through Disability Policy Summits; educating and supporting advocates on proposed policy initiatives and disseminating information to policy makers.
  • Increase health promotion opportunities for people with disabilities by supporting training that maximizes the health of people with disabilities and implementing health awareness and education campaigns.
  • Improving access to health care for people with disabilities by looking at the accessibility of healthcare facilities, and educating healthcare professionals through continued education, as well as internship placement for students in 11 different health related disciplines.
  • Improving emergency preparedness among people with disabilities by reviewing state emergency plans for accessibility, involving people with disabilities in county level planning, providing training, and ensuring shelter access by identifying and surveying pre-designated shelter sites.

The Arkansas Disability and Health Program is housed in the Partners for Inclusive Communities at the University of Arkansas for Medical Sciences.

 

Delaware
Program activities include:

  • Creating systems-level change through active participation on statewide councils, committees, and workgroups that are addressing health and disability issues and implementation of goals and objectives of the Plan for Action, A Strategic Plan for Delaware to Promote Health and Prevent Secondary Health Conditions in Individuals with Disabilities.
  • Providing technical assistance for health care, fitness, and recreation providers and facilities to improve accessibility and inclusion of individuals with disabilities in health examinations, exercise programs, and recreation activities.
  • Providing education, awareness raising, and resources sharing through the program’s interactive website www.gohdwd.org and email newsletters to individuals with disabilities, family members, professionals, policymakers, and legislators.

The Delaware Disability and Health Program, Healthy Delawareans with Disabilitiesis housed in the Center for Disabilities Studies at the University of Delaware.

Florida
Program activities include:

  • Promoting breast cancer awareness and encouraging recommended screening among women 40 years of age or older who have a disability (the Right to Know Campaign) with partners such as the Florida Centers for Independent Living and the Florida Area Health Education Centers.
  • Increasing the capacity of health care providers in Florida to provide quality health care to people with disabilities by training medical students, and medical and allied health professionals.
  • Increasing the quantity and quality of disability and health-related data in Florida and providing the epidemiologic capacity to analyze these data.

The Florida Disability and Health Program is housed in the Office of Disability and Health at the University of Florida.

Illinois
Program activities include:

  • Monitoring the health status and health-related behaviors of people with disabilities, and sustaining and expanding the statewide infrastructure to prevent secondary conditions and promote the health of people with disabilities in Illinois.
  • Increasing evidence-based health promotion and prevention opportunities and resources available for people with disabilities to promote healthy lifestyles and reduce the risk of chronic disease and secondary conditions.
  • Assisting health professionals to gain the knowledge and tools necessary to work effectively with people with a disability to increase the availability and accessibility of health promotion and prevention services, interventions, and resources.

The Illinois Disability and Health Program is housed in the Illinois Department of Public Health.

Iowa
Program activities include:

  • Developing a statewide network of community providers that offer the Living Well with a Disability intervention program.
  • Identifying evidence-based strategies to increase awareness and education opportunities for health professionals.
  • Promoting accessible health care and support services to increase independence among people with disabilities.

The Iowa Disability and Health Program is housed in the Iowa Department of Public Health.

Massachusetts
Program activities include:

  • Designing and implementing training and technical assistance for health care providers and public health programs on the Americans with Disabilities Act to ensure inclusion of people with disabilities in state funded programs, services, and activities.
  • Providing the knowledge base needed to design programs related to healthy aging, health and disability, and secondary health conditions.
  • Working with state agencies and community partners to identify, implement, and evaluate evidence-based health promotion programs among older adults and people with disabilities (for example, the Stanford Chronic Disease Self-Management Program).

The Massachusetts Disability and Health Program is housed in the Massachusetts Department of Public Health.

Michigan
Program activities include:

The Michigan Health Promotion for People with Disabilities Program is housed in the Michigan Department of Community Health.

Montana
Program activities include:

  • Recruiting, training, and supporting disability advisors to participate in Montana Department of Public Health and Human Services advisory groups and integrate disability and health into public health planning and evaluation processes.
  • Recruiting, training, and supporting state disability leaders to assess and improve the accessibility of community health and fitness programs.
  • Conducting Living Well with a Disability, an eight-week peer-facilitated, health promotion workshop with Montana’s four Centers for Independent Living.

The Montana Disability and Health Program is a collaboration between the Montana Department of Public Health and Human Services and the University of Montana Rural Institute, a Center for Excellence in Disability Education, Research, and Service.

New Hampshire
Program activities include:

  • Training students, self-advocates, families and professionals through coursework, seminars, workshops and conferences.
  • Providing technical assistance to organizations and individuals to improve their capacity to include all citizens.
  • Serving as a resource for information to policymakers and government officials.
  • Disseminating information to families, consumers, community members and professionals via books, monographs, articles, videos, newsletters, the Internet and press coverage, including TV, radio, newspapers and consumer forums.
  • Conducting applied research to better understand and address the needs of individuals with disabilities.
  • Engaging in collaborative activities and joint projects with organizations that share common goals.

The Institute on Disability (IOD) is housed within New Hampshire’s University Center for Excellence on Disability (UCED).

New York
Program activities include:

  • Implementing the New York State Department of Health (NYSDOH) Center for Community Health Inclusion Policy, which requires all Center for Community Health programs to ensure accessibility and inclusion for people with disabilities throughout all funding opportunities. The proposed activities to implement inclusive local and statewide public health programs must also include an evaluation of the effect and reach of the policy.
  • Educating and training NYSDOH program managers, primary program implementation staff, NYSDOH contractors and partners about the health disparities experienced by people with disabilities and providing strategies, resources, and potential partners that will enable the integration of people with disabilities in their program areas.
  • Supporting an advisory body comprising individuals with disabilities, other state agencies, community-based organizations, and providers to inform program activities, as well as representing multiple external agency advisory committees to direct consideration of health care and health promotion needs of people with disabilities.

The New York Disability and Health Program is housed in the New York State Department of Health.

North Carolina
Program activities include:

  • Supporting the collection, analysis, and dissemination of data on people with an intellectual or developmental disability, or both, to better assess the health status of North Carolina adults.
  • Promoting accessible environments to support full community participation and engaging people with disabilities by developing accessibility checklists for health care practices and by providing training on adaptive and inclusive fitness and how to remove barriers to fitness facilities.
  • Increasing access to domestic violence and sexual assault services for people with disabilities with the implementation of adaptive equipment and enhanced disability awareness among domestic violence and sexual assault agencies.

The North Carolina Disability and Health Program is housed in the North Carolina Office on Disability and Health, and is a collaboration between the Division of Public Health of the North Carolina Department of Health and Human Services and the Frank Porter Graham Child Development Institute at the University of North Carolina at Chapel Hill.

North Dakota
Program activities include:

  • Forming a consumer-driven advisory council that reviews the progress of the program activities, reviews data related to the health of people with disabilities, assists with development of a strategic plan, and provides recommendations for addressing issues related to the health and wellness of North Dakota citizens with disabilities.
  • Reducing health disparities in the areas of obesity, diabetes, and tobacco use among people with disabilities.
  • Ensuring people have accurate information on disability and health issues and promoting communication, planning, and implementation of health- and disability-related services across service systems.

The North Dakota Disability and Health Program, named the Disability Health Project, is a collaboration between the North Dakota Center for Persons with Disabilities at Minot State University; the Center for Rural Health at the University of North Dakota; and the North Dakota State Health Department, Division of Chronic Disease, Office for the Elimination of Health Disparities.

Ohio
Program activities include:

  • Improving state-level surveillance and monitoring activities with epidemiologic expertise from the Government Resource Center (GRC).
  • Advancing health-related disability policy initiatives in Ohio.
  • Promoting the health of people with disabilities through demonstration projects and train-the-trainer sessions.
  • Improving access to health care for people with disabilities through our partnership with the Ohio Association of Community Health Centers.
  • Revising Ohio Emergency Management Plans and committees to be inclusive of people with disabilities, increasing the number of PWD who have emergency plans, training first responders on the needs of PWD, and improving the accessibility of emergency shelters.

The Ohio Disability and Health Program is composed of the Ohio Department of Health, the Ohio State University Nisonger Center, the University of Cincinnati UCEDD, and the Ohio Colleges of Medicine Government Resource Center (GRC).

Oregon
Program activities include:

  • Conducting Healthy Lifestyles workshops for people with disabilities (in English and Spanish) to improve quality of life in partnership with the Centers for Independent Living and other disability organizations.
  • Implementing the Right to Know campaign and breast health education events, providing mammography technologist training, and assessing Oregon’s mammography clinics to improve breast cancer awareness and screening among women with disabilities.
  • Providing individualized emergency preparedness training for Oregonians with disabilities as well as working with key community and state partners to ensure that emergency preparedness planning and training efforts include topics relevant to the health and safety of people with disabilities.

The Oregon Disability and Health Program is housed in the Oregon Office on Disability and Health at Oregon Health and Science University.

Rhode Island
Program activities include:

  • Promoting the health and wellness for people with disabilities through inclusive self-management, evidence-based programs.
  • Monitoring, supporting and implementing effective healthcare transition from pediatric to adulthood within a positive youth development framework that promotes self-determination and an activated patient model.
  • Providing professional development for practitioners working with people with disabilities, including training, targeted technical assistance, and access to assistive technology.
  • Addressing special needs of people with disabilities in health promotion programs, health strategic planning, emergency preparedness, preventative health screening programs, and healthcare facility access.
  • Increasing access to quality of health-related data of people with disabilities in Rhode Island and using epidemiology and evaluation analysis to monitor the health disparities.

The Rhode Island Disability and Health Program is housed in the Office of Special Needs of the Health Disparities and Access to Care Team at the Rhode Island Department of Health.

South Carolina
Program activities include:

  • Increasing the knowledge of professionals and paraprofessionals in South Carolina to meet the preventive, primary, and secondary health needs of people with disabilities.
  • Conducting ongoing surveillance with Behavioral Risk Factor Surveillance System (BRFSS) and administrative datasets as secondary sources via the South Carolina Disability Cube Project.
  • Working to achieve more livable communities for people with disabilities by facilitating access to primary care physician offices, increasing access to fitness and recreation facilities, and working with community planning agencies to improve outdoor space using principals of universal design.

The South Carolina Disability and Health Program is housed in the University of South Carolina School of Medicine.

Friedreich’s Ataxia

Leave a reply

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.

Service dogs

Leave a reply

Service dogs can build your independence by boosting your mobility. These four-legged friends pull wheelchairs, function as a mobile cane for balance, and even perform many of the daily tasks you may have difficulty with.

While these “working dogs” are trained to retrieve dropped items, pull clothing on and off, and bring medication, their canine capabilities also prove to be essential in an emergency. For all of the reasons your furry friend is important to your daily routine, it’s equally important to ensure their safety during travel. Properly securing your service animal correctly in your vehicle can be a matter of life and death for both of you.

Just as you would secure your wheelchair with straps and other devices, you should secure your service animal properly and comfortably in your vehicle, as well. Be sure the car is properly ventilated and that crates or units are secured.

As a service dog usually stays by the owner’s side, a belt usually proves as the best option in securing your dog in the vehicle to guarantee his/her safety. Help your hound out with a body harness specifically made for canine car travel. Service vests can even be custom-made to better suit your animal and your vehicle.

Some dogs may get uncomfortable not being able to look out of the window and see where they are going, especially small dogs. The Snoozer Lookout helps satisfy your pooch’s curiosity and need to see. The Snoozer Lookout is a seat that allows your pet to sit higher while staying safely strapped in.

It goes without saying that properly securing your service animal not only keeps them safe from harm on the roadways, but also makes for a comfortable ride along with you.