About CMT Blog

What this blog is

Charcot-Marie-Tooth (CMT) disease is the most common family of inherited peripheral neuropathies, and one of the least understood by the public. If it’s new to you, start with What Is CMT?

I write about the research: what new studies actually show, how CMT is diagnosed and classified, and why its nineteenth-century name and numbered types are being rethought and replaced today.

I write about the lived reality: pain, mobility loss, mental health, social and family issues, disability, accessibility, and the everyday practicalities that research organizations and charities rarely talk about. I write from Canada, for Canadians as much as anyone, and I keep a list of Canadian CMT resources.

Who I am

My name is Dan, and I live in Edmonton, Alberta. I grew up and lived most of my life in the United States and one of its Pacific territories before moving to Canada in 2016. As a young person, the signs that something was significantly wrong with my developing body were small and subtle at first. By the time I was a young teenager, the stereotypical foot, leg, and ankle deformities associated with many neuromuscular diseases had become pronounced.

Nevertheless, despite living in the New York City metro — probably the one place with the most CMT expertise at that time — I didn’t get a diagnosis or any direction on how to get one. I didn’t even know about the broad neurological causal mechanisms. I was advised by doctors that there was nothing to be done except for major reconstructive surgery, which I was advised to avoid until things got bad enough in the future to justify the risks and tradeoffs. I’m nearing that point in my life now.

Almost three decades later, I was finally clinically diagnosed under the older taxonomy with CMT2 (“axonal”) in my 40s, in Edmonton. Due to the combination of unsupportive family members, not being rich or even comfortably middle class, and the lack of a public health system in the States, I never had a standard neurological assessment until I moved to Canada. More recently, I’ve learned that whatever it is I’ve got, by any name, doesn’t match any known genetic issue, unless it’s my own unique variants.

My diagnostic journey

It’s a strange but not terribly uncommon thing for people my age with a disability like this to go undiagnosed so long. I never knew “what was wrong with me” until I was in my early 40s. I tried to ignore what was happening from my teens onward, as a progressively lost mobility and pain around walking or standing increased. I’d always had back issues. I’d always felt as if the lower half of my body was 10 to 15 years older than the rest. The worst part was and still is the significant foot, ankle, and leg deformities, along with the mostly inert muscle below the knees that can’t be recruited by the nerves. When my partner of 23 years came across foot photos like these shared by people with CMT on Facebook in the 2010s, we finally matched the symptoms to a likely cause. I didn’t understand it was a neurological problem until then.

Since that time, I’ve learned that going undiagnosed is common, probably because of social stigma more than anything else. Lack of access to care is part of the story too. When I lived in the United States, my family and I rarely had health insurance and never had good coverage. That was partly the lack of public health care in the US, and partly the cultures my partner and I grew up in. Our families encouraged denial of pain, denial of need, and certainly any disability that could be hidden — especially for men. They were frugal to a fault. As a young man, I was told by the dominant women of my family that I didn’t have a problem, and that deformities serious enough for doctors to recommend orthopaedic surgery for (a complete ankle-foot rebuild) were merely a case of “hammer toes.” If I protested, I was “playing the victim.” When everyone is gaslighting you and themselves, it’s not easy to escape or avoid blaming yourself.

My parents and grandparents, who might have had milder symptoms, are no longer living and never would have opened up to genetic testing or probing questions. They were also people, and people lie, even to themselves. It wouldn’t surprise me if others in my family had CMT-like symptoms and hid them. Family denial about my own symptoms was strong enough that even I couldn’t believe in them, although I could feel them. We called what I had “high arches” for decades. (It is much more than high arches. This linked photo shows a mild to moderate example of the stereotypical pes cavus deformity. ) But then again, I could be a one-off with a non-genetic or non-inherited disease.

As a teenager, I was pushed to compete in track and cross-country, and even to pursue a military career to pay for university, despite the pain, stiffness, visible muscle loss, and deformities in my feet and ankles. An army doctor broke through the denial in my early 20s by pointing out that my toes don’t touch the ground. My family responded by urging absurd solutions, as if orthotics and physiotherapy would get me through. I had a small breakdown in one moment then, when I realized nobody had a clue as to what was really going on, and they were going to keep denying and minimizing it to “solve” the problem they wanted to solve, which was to dismiss the reality — and me. I think that was the last time I ever cried.

At least I was able to justify giving up running then, but I never felt I could non-apologetically explain myself to others without rolling up my pants and exposing my feet. I generally chose to let people assume all was well and stayed in the closet, so to speak.

Later, even after my initial diagnosis, I was pushed into running again by my partner, and it was torturous. I found fitness groups hard to deal with because no one could see what was going on as my balance got worse, my knees started buckling on slopes and stairs, and my hips and back started objecting to the extra work of carrying my semi-crippled lower legs. An off-kilter ankle and feet that didn’t make much contact with the ground weren’t helping either. Some people thought they were helping by urging me to run faster up and down very steep hills and stadium steps.

I was clinically diagnosed with an axonal or “mixed” type of CMT under the old classifications, with no clear subtype. Genetic testing since then hasn’t matched any known CMT gene. My own reading of the research has led me to prefer descriptive terms like Hereditary Motor and Sensory Neuropathy (HMSN), and these days I often just say “NMD” (neuromuscular disease) or “CMT/NMD,” as Muscular Dystrophy Canada does. That came well after I started this blog, which is locked onto the CMT nomenclature.

One important thing I’ve learned is that not all inherited neuropathies are inherited from a parent. It’s just that when whole families are obviously affected, they tend to end up in the diagnostic spotlight more readily together, once they’re aware and looking out for younger generations. The hereditary cases account for a lot of the known disease variants, but it’s also possible for new, de novo mutations to appear in one person and cause some type of NMD.

Without a broader family genetic analysis, it’s not possible to say for sure, but whatever I have seems not to be inherited, which is why it’s called “idiopathic.” (Cause unknown.) It wouldn’t shock me if a parent or grandparent lived and died hiding weakness and a stigmatized condition. Between economic depressions, wars, and hard immigration experiences, injuries and hidden pain were par for the course in my American family.

I still don’t really know “what is wrong with me.” The further I’ve gone with diagnosis and additional layers of comorbidity, the more I’ve realized how much isn’t known about CMT and related diseases. My genome is now in open research databases, so if anyone else with a matching neuromuscular disease turns up, we’ll learn something new.

How I write about CMT

I started writing about CMT in 2019, partly because the advocacy organizations were new to me and were publishing a lot of information I wanted to process and verify. That’s still the method: I link to primary sources, say when something is my opinion, and correct posts openly, with a dated note, when the evidence changes, or I get something wrong. If you spot an error, please tell me.

Sadly, a lot of what I learned trying to help out in the online CMT community space is that there’s a lot of dysfunction, disinformation, and counterproductive activity. Much of this is a disservice and actively harmful to people who have a neuromuscular disease or work in related fields professionally. And some of it is caused by them too.

I’m openly critical of some of the US-based charities that dominate CMT advocacy online, especially when their cure-focused marketing and fundraising efforts crowd out the practical needs of people living with the disease right now. Those critiques live in various posts on this site where I make a case for alternative ways of organizing and representing rare disease in terms of a “community.” Those posts are mostly under the heading of “Culture and Resistance” and have a great debt to and affinity for writers like Susan Sontag, who have cut through the popular denial and perennial nonsense about illness, disease, pain, and mortality.

“Abuse of the military metaphor [e.g., “CMT Warriors”] may be inevitable in a capitalist society, a society that increasingly restricts the scope and credibility of appeals to ethical principle, in which it is thought foolish not to subject one’s actions to the calculus of self-interest and profitability. War-making is one of the few activities that people are not supposed to view ‘realistically;’ that is, with an eye to expense and practical outcome. In all-out war, expenditure is all-out, unprudent — war being defined as as an emergency in which no sacrifice is excessive.”

― Susan Sontag, Illness as Metaphor and AIDS and Its Metaphors

Outside the Greater Toronto Area, I’ve found little knowledge of CMT in Canada, even among doctors, physiotherapists, and orthotists, though that seems to be changing slowly, as I look back over the past ten years since I got my diagnosis. If you’re in Alberta, the Calgary Neuropathy Association is a great group of people, many of whom live with CMT and other neuromuscular diseases. If you found this blog because you or someone in your family is dealing with CMT, you’re welcome to send me questions, stories, or feedback.

Health Disclaimer

This blog provides general information and discussions about mental and physical health, medicine and related subjects. The information and other content on this blog, or in any linked materials, are not intended and should not be construed as medical advice, nor are they a substitute for professional medical expertise or treatment.

If you or any other person has a medical concern, consult your health care provider or seek other professional medical treatment. Never disregard professional medical advice or delay seeking it because of something you have read on this blog or in any linked materials. If you think you may have a medical emergency, call your doctor or emergency services immediately.

The opinions and views expressed on this blog and website have no relation to those of any academic, hospital, health practice, or other institution.