When CMT Challenges Pull Me Under, I Must Decide to Sink or Swim

Living with an invisible, rare disease poses challenges, opportunities, and many lessons.

I was diagnosed with Charcot-Marie-Tooth disease (CMT) type 1A as a toddler, and I’m now approaching 49. Those early memories of life with CMT are murky, but I recall visits to our local children’s hospital, where my pediatric neurologist was based, for physical therapy and a couple of nerve conduction tests, my nightly physical therapy sessions at home that my dad administered (I got the weekends off!), and the feeling of weakness and tiredness in my legs at all times. And the tripping, the falling, and the banged-up legs — there was a lot of that.

In the 1970s and ’80s, when I was under my pediatric neurologist’s care, not much could be done, so she released me as her patient when I was 12. Surgery was not yet a viable option, therapy didn’t improve my condition, and my neurologist concluded that by my 18th birthday, I would be in a wheelchair.

I’m uncertain whether it was due to an incorrect prognosis or the lack of scientific research at the time regarding how and when the disease manifests — a source of frustration for those of us with rare diseases. Nevertheless, I’m still walking on my own with the help of an innocuous orthotic.

This doesn’t mean I don’t live with constant pain or have daily physical challenges. Pain and other difficulties are always at my side, lurking just beneath the surface like a river’s undertow, forcing me to wonder if I will sink or swim in the moments when I stand up after sitting for a while, lift a heavy box at work, or manage steep stairs at my office and home. They’re present when I’m standing still and lose my balance like a drunken person. Negotiating buttons and zippers falls within these daily obstacles, too. Each day brings challenges that I must navigate and parlay.

As frustrating as these obstacles are, living with CMT also has offered me opportunities, such as the chance to fight the disease and delay the inevitable a little while longer. It might take me longer to put a button through a hole, but I’m still doing it, and I will continue to do it until it becomes impossible.

Every step I take is painful, but I still manage.

CMT has taught me to be compassionate and empathetic toward others. It has illustrated the art and the beauty of balance, literally and figuratively. It has shown me that if I am to successfully navigate this bumpy terrain, I must adjust to and accommodate the changes in my path, and gracefully accept them.

Acceptance and accommodation also include my son, who was diagnosed on his first birthday (he’s now a teenager), and possible changes in my 25-year career, due to its physical nature and the long hours on the road.

The beauty of 2020 allowed folks like me to indulge in the opportunity to work from home and to give our bodies a much-needed respite. It made a positive difference in my life, despite the irony of contending with a pandemic.

As we reenter society, I see that it may be time to explore that transition further and make it permanent. Having CMT will guide some of these decisions as I pursue a new career. I’m not sure how it will end up, but it’s certainly an exploration into the unknown.

With this column, I hope to discuss not only the frustrations and the unknowns that many of us with CMT face, but also the triumphs and the hacks we have learned in our time dealing with it. I’m happy to have you as my travel companion as I discover new options and seek broader discussion about life with an invisible disease.

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Note: Charcot-Marie-Tooth 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 other 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 Charcot-Marie-Tooth News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Charcot-Marie-Tooth.