Symptoms are in reality nothing but a cry from suffering organs.— Jean Martin-Charcot
Being able to walk pain-free is a blessing. Being able to walk without showing the pain is a skill.— Widely Quoted on the Internet
Charcot-Marie-Tooth (CMT) Disease is the most common inherited form of peripheral neuropathy, affecting almost 1 in 1,500 people. Despite its prevalence, CMT is not well-known outside of a few research hubs in the United States and European Union compared to other types of progressive neuromuscular atrophy.
A simple description of most CMT cases is that it’s the progressive degradation and loss of motor nerves in the upper and lower extremities. Nerve signals are delayed or lost in part or entirely, with the feet and toes, hands and fingers most affected. Muscle tissue weakens and dies, bones develop improperly, and over time the stress on other parts of the body can lead to a number of commonly associated problems. The impact on mobility and its progression over time varies from person to person. Some rare forms of CMT are terminal, life threatening, or can impact respiration and shorten one’s lifespan. Most CMT cases do not decrease life expectancy, but they all impact quality of life.
If CMT is new to you, this video from Muscular Dystrophy UK makes a good introduction. This shorter interview with Holly Waters, who has CMT, describes what it was like to grow up with a moderately severe case in 1970s-80s. 📺
While genetic research since the 1990s has revolutionized diagnosis, and promising new paths to cures and therapies have begun to emerge since the late 2000s, CMT still goes undiagnosed in many families. Finding the best ways to deal with its physical, emotional, and relational effects can be a daunting and lonely process, especially when resources and support are lacking.
I never knew “what was wrong with me” until I was 40, but thanks to medical advances and people with CMT sharing photos of their legs and feet on social media, I started down the path of diagnosis and more informed coping relatively recently.
Now, thanks to the good people at Automatic and Knock Knock WHOIS There (KKWT)’s dotblogger program, I started this blog at WordPress.com to share my questions, stories, and the things I am learning along the way.
I’m especially interested in promoting CMT awareness and connecting with people in Canada. 🇨🇦 Outside of southern Ontario, I’ve found little support and knowledge about CMT, even among doctors, physiotherapists, and orthotists. If you find yourself or a family member in a similar position, please join in with any questions, comments, or feedback you may have. 💬
Got a question or story idea?
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