Before I was diagnosed in 2013, I had never even heard of Friedreich’s ataxia.
I learned a lot during the diagnostic process as we assessed the viability of possible diagnoses to rule out. For example, I never knew there was such a thing as gluten ataxia, but I know I don’t have it. I spent way too many hours thinking I had multiple sclerosis, brain tumors, and muscular dystrophy. I tested negative for each of these possibilities on my diagnostic journey.
When we got to the point of genetic testing, my doctor rattled off a handful of possibilities he was considering, but I was only half listening. I was so overwhelmed with relief that my MRI proved I didn’t have multiple sclerosis or a tumor, and I was scared and frustrated at still not having answers.
I didn’t really hear any of the genetic conditions my neurologist listed because I had told myself that if my MRI was clear, I would stop symptom-checking and self-diagnosing via the internet. I would leave the doctoring to the actual doctor. I decided to stop psyching myself out before each appointment.
When my doctor told me I had a genetic disease called Friedreich’s ataxia (FA), I was so earth-shatteringly confused. How could I have a genetic disease when everyone in my immediate and extended family was fine? My doctor was only able to answer my questions on a surface level. He offered me a summary of FA and the related symptoms. He recommended seeking out not only a neurologist but a cardiologist, an ophthalmologist, and a physical therapist to learn more and to manage my health.
After the shock of my diagnosis wore off and I began to research my disease, I quickly realized he was right. This diagnosis was huge and I needed a team of help. I assembled a world-class team and took charge of my health.
After more than seven years as an FA patient, I have learned way more science than I ever anticipated. After all, I studied public relations in college for a reason: math and science aren’t my strong suit.
Yet I have found myself thrust onto a medical stage because of my diagnosis. My FA symptoms have progressed to the point that I am dependent on a walker to move about my day safely. My walker acts as an invitation to discuss my disability almost every single time I leave my house. I often find myself talking to strangers, acquaintances, and friends about my DNA, the effects of my progressive cellular damage, the wide array of symptoms I currently and will eventually experience, and so on. I hear about friends’ relatives and acquaintances who have disabilities and get asked random questions about their medical health.
My FA reality seems to have come full circle. Because I chose to publicly share my journey with FA, there is a spotlight on me. I am so honored to write for Friedreich’s Ataxia News. I am proud to be a consistent top fundraiser for rideATAXIA. I have spread awareness about FA in all of my circles.
This stage has afforded me some really neat opportunities. I have talked to newly diagnosed patients and their families. I have shared my story with local news outlets. I have shared my spiritual journey with my church. I have offered my time and my body to clinical studies and trials.
Not only has all of this taught me so much about the science of what makes me who I am, but it has taught me about how my disease has shaped my character. It has redefined and forever changed so much of who I am. I am stronger than I thought I was. I have learned when to set my pride aside and seek help, and when to prove myself able. I have learned how to share my story. I have learned that no matter what happened to my body, I am resilient, strong-willed, and capable. I am thankful for all that life with FA has taught me.
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 another 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.The opinions expressed in this column are not those of Friedreich’s Ataxia News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Friedreich’s ataxia.
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