I am a freelance columnist for Friedreich's Ataxia News. I was recently published on my column, My Darling Disability, and I wanted to share it here, too. You can either read it by following this link, or just keep scrolling below.
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.
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