The news that a child has a genetic, lifelong illness is always devastating for parents, but the diagnosis of a condition like Friedreich’s ataxia (FA) is particularly overwhelming.
FA begins early in life, gets worse as a child ages, eventually involves many different organ systems, and there is currently no cure or treatment to slow its progression. Parents must realize that their child will need to use a wheelchair before they reach adulthood and may have a reduced life expectancy.
Although the progression and specific manifestations of Friedreich’s ataxia will vary among patients, the inevitable disabilities will affect every area of life, including family, school, navigating the healthcare system, and adjusting to the child’s changing physical abilities. Finding a network of families also touched by Friedreich’s ataxia can provide a valuable support system as families cope with the disease.
Because FA is usually diagnosed in children before their teen years, explaining the condition and helping them understand what to expect in the future may be one of the first challenges a family faces. One parent advises that the initial explanation be simple and general, with more details provided as a child ages and asks questions.
The diagnosis also needs to be explained to siblings, who may need to be involved by providing practical help with physical tasks. They’ll also need to cope with adjustments in their home and activities.
Families may also want to consider genetic counseling, especially if they plan to have another child. Having a child with FA suggests that both parents are carriers of the defective gene causing the disease, and they have a 25 percent chance of having another child with Friedreich’s ataxia and a 50 percent chance of having a child who also carries the defective gene.
In some cases, FA affects school experiences before it is even diagnosed, when difficulties with fine motor skills and balance appear without a known cause. Once the diagnosis is established, educating a child’s teachers and classmates about FA and how it affects the child can go a long way toward understanding and acceptance.
Practical adjustments in the school environment can be made to help children with Friedreich’s ataxia succeed in school. The Individuals with Disabilities Education Act (IDEA) states that a child with a disability has a right to have an Individual Education Plan (IEP) that ensures that schools meet the specific needs that accompany a child’s disability. A team including parents, teachers, administrators, outside experts, and sometimes the student, comes together to create an IEP.
Friedreich’s ataxia is primarily a neurodegenerative disorder that affects voluntary muscle movement, so the first symptoms are usually related to mobility, such as walking and fine motor skills. For example, a child with FA may be prone to falls and may have difficulty buttoning clothing or using a pencil.
As the disease progresses it affects many different parts of the body, causing other problems including scoliosis (curvature of the spine), diabetes, hearing and speech problems, and heart conditions. This means that a family will need to coordinate healthcare with many different specialists, from orthopedic surgeons to speech therapists.
Because Friedreich’s ataxia is a rare disease, even physicians may need to be educated about the current standard of care. The Friedreich’s Ataxia Research Alliance (FARA) has established clinical care guidelines to help physicians with diagnosing, treating, and managing patients with FA.
Many resources are available to help meet the practical challenges of living with Friedreich’s ataxia. Some of the issues families face include accessibility in the workplace, travel, coping with everyday activities, employment and education opportunities, navigating medical insurance systems, and getting updates on available assistive technologies.
Patients and families can learn what helps and what makes life worse, and take responsibility to optimize their health where they can. For example, avoiding environments that increase risks for falls; avoiding excessive use of alcohol (which can make ataxia worse); being cautious about medications that can cause nerve damage; taking advantage of computer technologies such as those that allow voice control; maintaining physical fitness (appropriate to the individual); and using adjustments that can help with vocal communication and hearing.
Coping and support
Families touched by Friedreich’s ataxia can feel isolated and lonely, so connecting with other families facing similar challenges can be life-changing. Families can share experiences, knowledge, and advice, both practical and emotional. The Friedreich’s Ataxia Parents Group (FAPG) connects families across the globe who can share both their highs and lows via email communication.
Many scientists are searching for treatments to prevent or slow the progression of Friedreich’s ataxia. Families are encouraged to explore opportunities to participate in clinical trials.
Note: Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.