From diagnosis to daily life: Guidance for parents of children with Friedreich’s ataxia

 

Being the parent of a child with a rare disease like Friedreich’s ataxia (FA) takes you beyond the expected boundaries of parenting. It’s balancing healthcare appointments, working through the challenges of a progressive disease, staying strong for your child, and so much more.

Facing down FA is something Elizabeth Hamilton does every day as mom to her daughter, 11-year-old Amelia. When she feels overwhelmed, Elizabeth reminds herself that she’s not on her own — there is a community of other parents going through the same thing.

“All it takes is a text, a call or an email, and I know my ‘FAmily’ members will show up,” she says. “I might handle each moment as a singular person, but I am not dealing with this alone, ever.”

As a parent of a child with FA, it may sometimes be difficult to know where to turn for support and what the next step should be. The following information may help you navigate some of the challenges of parenting a child with FA and connect you to resources that can offer support.

After the diagnosis

Being diagnosed with a disease can be very confusing and frightening for any child. But it’s especially challenging for a child with a new diagnosis of FA who is trying to understand what’s happening to their body.

It is important that you think about how you want to talk to your child about the FA diagnosis. Anne M. Connolly, MD, chief of the Division of Neurology at Nationwide Children’s Hospital in Columbus, Ohio, recommends that parents talk to their child about FA in an age-appropriate manner.

“Child neurologists are trained to help with this, and it is appropriate to ask your doctor how much information your child needs at each age,” Connolly says.

Marcy Freed’s 17-year-old son, Greyson, was diagnosed with FA at the age of 8. They live in Del​​aware, Ohio, with Geyson’s father, Tim, and older brother, Elliot. Freed suggests that parents connect with mental health therapy, both for their child and for themselves.

“I knew I was in over my head. I have now seen the same therapist for nearly 10 years,” she says. “I cannot imagine how I would have navigated the past decade without her help.”

Freed said it was difficult figuring out what to share with Greyson and how to explain FA. At first, she relied on the professionals to take care of that for her. But she also listened to her gut.

“There was a moment when he was about 12 that we decided that we would hear news together –– no more closed-door conversations,” she says. “We would hear the news together and grieve or celebrate the news together.”

Above all, Freed says, don’t delay joy.

“If you want to do something, do it now,” she says. “One day when Greyson was about 10, he came home from school after a snow and asked me what I thought would happen if we took our kayak down the sledding hill. So we took the kayak down the sledding hill!”

Managing healthcare appointments

Healthcare appointments are an opportunity for parents to track changes in their child’s condition; ask questions; request changes to prescriptions for medications, physiotherapy, and speech therapy; and learn about other healthcare services. But navigating the healthcare system can be difficult, even without the complication of a rare disease like FA.

“Advocate for your child and don’t accept the answer of ‘there’s nothing we can do.’ Find a neurologist who understands FA and stays informed about current research and treatment development,” says Lauren Moore, PhD, chief scientific officer at the National Ataxia Foundation (NAF). “If you aren’t sure where to start, connect with a patient advocacy organization, such as NAF or FARA (Friedreich’s Ataxia Research Alliance), to help you identify experts in your area.”

Parents should prepare for a visit to their child’s neurologist by making a list of current medications, writing down symptoms, and noting what makes them better or worse. It’s also helpful to have a list of questions and be ready to write down the answers.

Connolly recommends that parents bring milestone information to the doctor's appointment. She says taking short videos of their concerns may also be helpful.

Hamilton packs a bag with items that can help Amelia with discomfort during healthcare visits, especially when it involves invasive tests like bloodwork.

Amelia began to have FA symptoms when she was around 4 but did not get a definitive diagnosis until 2020, four years later, after a number of misdiagnoses. She lives in Columbus, Ohio, with her mother (who is a columnist for Friedreich’s Ataxia News), father Ryan Hamilton, and older sister Katherine.

Hamilton suggests asking your pediatrician for numbing cream for blood draws. She applies the cream 30 minutes before a blood draw to the area on her daughter’s arm and wraps the skin in plastic wrap. She also tries to make sure Amelia is well hydrated whenever she knows she will be having bloodwork.

Hamilton then likes to take time afterward to celebrate with a treat.

“Do special things in the process so your kiddo has something to look forward to. There is an insane ice cream place in Philly that we go to after trial appointments,” Hamilton says. “It is the thing she remembers.”

Family, friends, and the school years

Maintaining close relationships with family and friends, and especially with teachers at your child’s school, is important.

“Children with FA are at risk for being teased based on how they walk, how they write, and how they talk,” Connolly says. “Educating both the teachers and subsequently the children can be very beneficial and make school a more positive experience for children with FA.”

Freed said her family figured out how to better balance school and major healthcare appointments, lessening the stress on Greyson. When he was younger, she made a rule that summer was reserved for fun and scheduled his medical appointment during the school year.

“Now that he is in high school and his fatigue is increasing at what feels to be a rapid rate, we schedule appointments in the summer. It's just easier to have the time to get to the appointments without juggling school,” she says. But she is also glad that they played during the summer in those early years when her son could still enjoy it.

For the past two years, Hamilton’s daughter Amelia has attended a school where 60% of the population have orthopedic impairments.

“It’s a space of inclusion and care. She has made more friends during that time than she did in the past because she is seen for who she is,” Hamilton says.

Heather Hooper’s son, Jackson Walters, who was diagnosed with FA at age 12, had a supportive group of friends at school. Now 18, he recently graduated from high school in Kimberly, Alabama. Their family also includes Jackson’s twin brother Camden Walters, stepdad Kyle Hooper, and stepsisters Katlyn and Kylie Hooper.

“The school years were good. I just didn't like how I couldn't walk and do everything else other kids could. But at least I had friends that helped me get around and carry stuff for me,” Jackson says. “I certainly don't like the progression, but I try my best to be the best me I can be.”

Navigating nutrition and diet

While there isn’t conclusive evidence that a specific diet will change the course of FA, Connolly recommends following a well-balanced diet, which is important for maintaining a healthy body weight and can address some of the bothersome symptoms of FA.

A well-balanced diet for someone living with FA is usually similar to diets typically recommended for the general population — eating lots of plant-derived foods such as fruits, vegetables, and whole grains and moderate amounts of protein and carbohydrates, and cutting back on foods that are processed or high in fats or refined sugars.

But there are also some specific dietary guidelines that patients may follow to meet their nutritional needs. For example, the Ataxia Center at the University of California, Los Angeles, developed the “Ataxia diet,” which eliminates simple carbohydrates such as refined white flour and sugar products and avoids processed meats. The diet allows for complex carbohydrates such as rice, pasta, fruits, legumes, and starchy vegetables, along with low-fat proteins and dairy.

The Wahls Protocol is an anti-inflammatory diet derived from the Paleo diet that’s thought to be useful for ataxia by eliminating foods that may trigger inflammation in the body. It was first proposed for multiple sclerosis, an autoimmune condition, and recommends that people eat a lot of lean meats and fish, leafy vegetables, brightly colored fruit, and omega-3 fatty acids. In contrast, it suggests avoiding dairy products, grains, legumes, potatoes, peppers, eggs, sugar, and nightshade plants such as tomatoes.

Hamilton’s daughter Amelia has been on the Wahls Protocol diet for about four years.

“We are not always strict with this but do follow it in general,” Hamilton says. “The anti-inflammatory, highly dense nutritional focus has been helpful with weight gain and general mobility. When she eats off of the protocol, we notice pretty quickly.”

Exercise and therapy

As their disease progresses over time, children with FA will begin to experience progressive muscle weakness that affects their ability to run, jump, and move around.

Connolly recommends working with your child’s physical and occupational therapists on improving balance, rather than exercises that target strength. Occupational therapists can also work on fine motor control issues like hand dexterity.

“For example, a weighted spoon or a heavier thicker pen or pencil may be easier to use,” Connolly says.

Hamilton tries to follow Amelia’s lead when it comes to play and exercise, whether at the playground, out biking, or when just having fun.

“Creativity is the biggest skill we have seen with our child in addressing her mobility barriers. Tighter spaces with furniture nearby to ‘furniture walk’ is helpful, as is providing choice as to what she needs to stay safe,” Hamilton says. “Control is so important to children as they are developing, especially when their bodies feel out of control, so we work to honor and empower her.”

Companion animals can also be therapeutic. Hooper’s son, Jackson, plays with his pet cat, Fiona, and guinea pigs Cookie and Alice.

“He is supposed to be getting a service dog sometime this year, and we are all excited about how it will be able to help him be more independent,” she says.

Hamilton agrees, saying it’s empowering to care for another living being. “You can never go wrong with a loving pet.”

Find support groups for families

Being part of a community of other parents who have similar experiences, challenges, and concerns can help with feelings of isolation and loneliness.

FARA offers resources for parents of a newly diagnosed child, including education, travel, athletics, and school. There are also support groups such as the FA Parents Group (FAPG) and the columns and forums at Friedreich’s Ataxia News.

Paul Konanz is a co-moderator of the FAPG, along with Sue Kittel and Valerie Bennett. The parents group has 900 members from around the world talking online. They also raise money for research at FARA.

Konanz said the parents use the forums for “emotional support, FA-life problem solving and the best dynamic place to be personally informed of daily changes in FA research.” He also moderates the group’s members-only Facebook page.

“FAPG has remained committed that the most important mission in FA is to achieve multiple treatments,” he says. “So that all FA’ers will have access to the combination of treatment approaches that works best for them.”

Ultimately, being a parent of a child with FA requires connecting with healthcare professionals, doing research into the disease, the doctors and its treatments, and managing checkups and medical appointments. But it’s also about tapping into your compassion and empathy, the ability to be an advocate, and knowing when to guide and when to follow your child’s lead.

“Parenting a child with FA has broken my being into a million little pieces,” Freed says. “Going to therapy and leaning into the pain and grief of this disease while simultaneously holding the joy that life still has to offer has slowly begun to put me back together.”

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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.