In the fifth grade, I was diagnosed with the rare disease, Friedreich ataxia (FA). Up until then, I played sports and ran laps in gym class, but then my life was turned upside down. I don’t remember much about my diagnosis because at 11 years old, what kid understands the importance of their physical health? All I knew was that it scared my parents, but I still planned to hit the softball field that spring.
One day while I was at school learning about fractions and percentages in math class, my mom and dad met with the neurologist. They talked about my “new normal” and what things would be like going forward.
FA was brand new to us all, and in 2008, the resources we have now weren’t available to families. I’m sure they covered the percentages of inheriting FA and the statistical probability of other medical issues popping up, such as diabetes and cardiomyopathy. But despite all of the intimidating medical terms and the potential future problems, my mom came home that day with advice from the neurologist that I will never forget: “You’re going to keep living your life and we’ll take each day at a time.”
My symptoms of FA were slow and steady, and I’m thankful for that. I had experienced some bad leg twitches and body tremors, some loss of coordination and balance, and the occasional bout of leg pain. But I had gotten another year for softball and was still able to walk mostly the same as the year before. My grade school wasn’t small and it didn’t have an elevator, and although I often got tired, I was still able to maneuver the stairs until I graduated in 2011. My high school thankfully did have an elevator, which helped a lot, and I walked through the halls all 4 years with only some slight adjustments.
Read more about experimental therapies for FA
It wasn’t until I started college in 2015 that I needed a mobility scooter. A scooter gave me the freedom to experience college life just like other students, disabled or not. It provided me with a way to get around campus because long distances weren’t an option anymore. I still walked around my dorm room mostly unassisted; the scooter was there in case I needed it. Slowly, the scooter became my main mode of transportation. Although I wouldn’t choose it if I had a say, my scooter allowed me to do what “normal” students could do. It helped me tremendously, and I scooted my way to graduation.
Fifteen years later, FA still affects my life in more ways than one, but I’m here to write a column—not a book. It’s altered how I physically live my life every day, but I have assistive devices (eg, my trusty scooter) to get me to the places that I need to go. Transitioning from walking without any help to being a full-time mobility aide user was hard because I was slowly losing my independence, but that’s not to say I wasn’t still trying to live my life like any other teenager.
The loss of coordination in my legs, arms, and hands wasn’t the only symptom of my FA. I also experienced fatigue, hearing loss, slightly slurred speech, and aggressive scoliosis. The progression of FA in my case was fairly slow in my teen years, but now at 26, I can see the progression increasing more quickly.
Read more about FA diagnosis
I was lucky in the way some patients aren’t: I was diagnosed within only a few months and was blessed with an awesome medical team right away. The neurologist who began seeing me at age 11 has followed me on my FA journey throughout all these years. His team has always been available to answer my questions, address my concerns, and help me through difficult health periods related to FA.
Even though I’ve probably earned an honorary medical degree by now, I still visit my neurologist annually to maintain the best quality of life that I can. FA has definitely slowed me down and discouraged me over the years, but I’m still in control of how I choose to live with it.
