Why my diagnosis experience reminds me to prioritize my health

I learned that I had Friedreich’s ataxia (FA) just a few weeks before I turned 25. The news came in a phone call, but without any description or explanation; instead, the diagnosing doctor said they’d scheduled me with a geneticist who would explain everything in more detail. The doctor on that phone call sounded calm and relaxed, so I assumed that meant the diagnosis was minor.

Thus, I forgot most of the words she used, including the name of the disease, and went about my busy weekend.

The following week, I made my way to the geneticist’s office. Because I had the impression this wouldn’t be a big deal, I didn’t think to invite anyone to go with me. Although I knew I was entering new territory, the matter felt familiar. I felt confident someone would give me an action plan, maybe a prescription, tell me to drink more water, and I’d be medically healed and cleared in a matter of time.

Of course, that appointment with the geneticist was my longest, most life-changing hour.

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Thankfully, the geneticist was comfortable telling me he wasn’t too familiar with the specifics of FA, but was familiar with ataxias in general and understood many neuromuscular issues. At the time, I interpreted this as a chance that I was an outlier; perhaps everything he said was true for many, but wouldn’t be true for me. After all, the symptoms he was warning me about were things I hadn’t experienced.

I took the prognosis I received that day under advisement. Half of me was overwhelmed with heavy grief that was hard to explain, while the other half was hopeful and convinced my blood test results had gotten mixed up with somebody else’s.

It wasn’t until I had the diagnosis written down and took time to search the internet for information that the reality of my situation began to sink in.

Much of my story beyond that is history.

Now, almost 16 years of progression later, I often wonder if living with FA, or my diagnosis experience, has caused me to expect the worst when I notice a new symptom. Or maybe I have hypochondriacal tendencies?

Whatever the case, I’ve learned that no matter the health concern, acting with diligence and a commitment to myself is the best course of action when a new symptom or issue arises.

Maybe a new symptom is something; hopefully, it’s nothing. But if it is something, there are usually two ways to find out: Things will get worse, or I’ll begin the process of eliminating it with the help of medical professionals.

It can be challenging to balance my concern with the many people around me who are saying, “I’m sure it’s nothing. You’ll be fine.” I don’t want to be the guy who overreacts to a common cold. But more important, I don’t want to be the guy who overlooks mild symptoms that eventually diminish my quality of life.

This column is my reminder that it’s OK for me to seek answers. I hope you prioritize your health and permit yourself to exercise the best care possible.

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 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.