Tina Trahan said she was sitting in a parking lot in May 2015 when she cried out to God, asking him to give her cancer. Cancer, she thought, offered a greater chance of survival than what a neurologist had just told her she had — amyotrophic lateral sclerosis (ALS).
It was the latest in a string of unfortunate setbacks in her life. But ultimately, ALS was the wrong diagnosis.
Months later, an ALS specialist correctly attributed her muscle atrophy, foot drop, and pain not to ALS, but to Charcot-Marie-Tooth disease (CMT). Trahan later referred to the news as “the best Christmas gift ever.”
I first read about Trahan’s story earlier this year on a blog post at a popular CMT fashion site, and I was reminded of it as CMT Awareness Month drew to a close. Stories like hers illustrate why we need to remain vigilant in our effort to spread the word about CMT. And as others have urged, we who are open about our CMT should call it by its name.
Despite the fact that it is one of the most common inherited neurological disorders, CMT is not well known. I’ve found there’s a temptation to describe it in terms of other conditions. Many people don’t have a frame of reference to understand neuropathies.
In the past, I’ve used roundabout descriptions. “Sure. It’s kind of like muscular dystrophy, but not really,” I would say. Or my go-to: “It’s kind of like genetic clumsiness.” I’d leave it at that and move the conversation forward.
But the danger of not calling CMT by its name is that it will continue to go relatively unnoticed by the general public. And we need the general public to help defeat this disease. I don’t want CMT to fly under the radar.
This is something I think about when I hear stories like Trahan’s.
My father thought he had a clubfoot. I’ve met people with family histories of “that mysterious funny walk.” And every now and then on CMT forums, I hear misdiagnoses of muscular dystrophy, polio, multiple sclerosis, chronic inflammatory demyelinating polyneuropathy, and even “it’s all in his head.”
This is not only incredibly unfortunate, it’s dangerous. Treatments for other diseases are ineffective at treating CMT, and some can worsen the symptoms.
Still, there is some hope. Times are changing. Most of my friends who are in medical school or who are physicians have studied CMT. There are even YouTube videos with mnemonics to help medical students remember CMT.
We should always strive to move the needle forward.
I want a future where more people can identify the adversary that is CMT, and a future where everyone has heard a CMT story. I want a future where all physicians know to test for CMT when confronted with a patient with CMT-like symptoms. Because that future is an important step toward ending CMT for good.
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 Services, and are intended to spark discussion about issues pertaining to Charcot-Marie-Tooth.