The ‘Right Time’ Can Be a Moving Target With a Progressive Disease

Sean Baumstark avatar

by Sean Baumstark |

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I was diagnosed with Friedreich’s ataxia (FA) in 2007 after searching for answers to the consistent and heavy fatigue I was experiencing. In case you aren’t familiar with FA, fatigue is commonplace, but there are more urgent issues, such as cardiomyopathy and mobility limitations, that tend to monopolize our attention.

Because fatigue was the symptom that nudged me down the diagnostic journey, I’m not one to discredit its impact on my day-to-day. If you’d like to better understand an FA patient’s journey with fatigue, my fellow columnist Kendall Harvey recently illuminated its intensity.

Of everything doctors have told me since 2007, what has been missing is a definitive timeline or a step-by-step succession of events. As much as I’d like such an outline, one hasn’t been provided because such certainty doesn’t exist.

Like many rare diseases, FA progresses differently in each of us.

I’m a fan of knowing and understanding the “plan.” I like being aware of the typical process. For instance, when I was younger I appreciated having a plan to get my diploma, go to college, get a “real” job, get married, have kids, and so on. Such successions in life exist for all of us, even if some of the stages we live through or the paths we take are completely different.

With the progressive yet unpredictable nature of FA, I struggle to know when I should push my physical limits and when I should play it safe. Although I like the independence and the pseudo-control I have over my own decisions, my ego sometimes prefers that such decisions were not in my purview. 

Sometimes I wish I knew what should happen next.

Generally speaking, expectant mothers follow a fairly routine plan for medical appointments, follow-ups, check-ins, and ultrasounds (barring any abnormal circumstances). Politicians run a campaign, win an election, then get sworn in. Employers post job openings, review applications, conduct interviews, then choose and welcome a new associate.

Why can’t there be a successive plan for FA, too? Perhaps something like “If you stumble five times in a day, then obtain a Rollator” or, “If you fracture your femur, it’s time to use a wheelchair.”

I know there isn’t a framework to follow and such decisions are only mine for the most part. I’m afraid that I’ll choose something too soon and inadvertently speed up the deterioration of my own strength or abilities. After all, it’s hard to ignore the adage, “Use it or lose it.”

I learned last week that I have a slight fracture in my right knee from one fall and a fracture in my left foot from another fall. Both injuries have been manageable with slight adjustments in my day-to-day activities, though I can’t help but question my own motives and mobility decisions.

Have I stumbled into the next stage of progression or am I allowing the fact that these injuries are “small” to be an excuse for remaining on my feet? I realize that definitive answers and specific parameters don’t exist, and that my ego isn’t the best advisor.

This current struggle reminds me of much earlier columns, where I explained the difference between excuses and reasons and wrote about taking responsibility for each

Today, I was measured for a custom wheelchair. Not because I can’t operate without it, but because I’d rather decide for myself to use a chair now then wait for the next fracture to force it upon me. 

After all, the ultimate goal is to sustain and prolong life and the quality thereof. Being proactive and safe will help me do just that.

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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 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.