Living and Learning with Neuromuscular Disease ›
“If people experience pain and change and stress, even danger, communally it’s bearable. But when we are alone with it, it becomes less and less bearable.”
— Gabor Maté 🍁 Canadian doctor, author, trauma expert, Holocaust survivor, and humanitarian
Explore CMT Blog
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Kahtulas
I’ve had these broken Kahtoola links on my desk since the last winter I did a lot of walking. Read more ⇢
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Diagnostic Pathways for Idiopathic Neuropathy
“You have a serious illness of an undisclosed nature.” Read more ⇢
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CIDP and CMT
I’ve been interested in the diseases and disorders that can be mis-diagnosed as CMT (or vice versa) for a while. One that has come up a lot is Chronic Inflammatory… Read more ⇢
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There is no such thing as standing, there is only being held up.
Friends reminded me of this great passage from a letter of Franz Rosenzweig to his sister: You know, you needn’t feel bad because you lack the power to ‘tell yourself… Read more ⇢
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Physical and Emotional Pain Need Equal Attention in CMT and Polyneuropathy Communities
Alongside research for treatments and cures, the CMT community needs to take a hard look at some elephants in the room — the most common and most remnediable pains and… Read more ⇢
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Cal Newport has something surprisingly sane to say about AI — and medicine, and many other topics
David Epstein and Cal Newport discuss the possible impact of AI on medicine and medical diagnostics. Read more ⇢
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BILLY’s in Canada now!
Previously it was only possible to get BILLY shoes in Canada through retailers like Brainsport.ca and hsktkids.ca. Now BILLY is shipping from Canada to Canadian customers. Just go to billyfootwear.ca. Read more ⇢
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Differential Diagnosis with Dr. ChatGPT-4 in the House
In a matter of seconds, ChatGPT reviewed and confirmed the findings of three neurologists and a genetic counselor that took me six years to gather. It also suggested a new… Read more ⇢
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The “First Treatable CMT Disease” is Neither CMT Nor a Disease
CMT-related research may truly do away with CMT disease first by eliminating or updating how naming and classification works in neurological pathology. Read more ⇢
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Anxious Dogs and People: Using AI to Make It Awkward
Throwing curveballs at ChatGPT gets the most interesting results. You start to see the “artificial” part of AI that often reflects an uncomfortable problem or ugly contradiction in the ways… Read more ⇢
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Fuck Pain! And People Who Don’t Get It
Some medical facts and advice about pain — and then some straight talk about the question pain makes more acute: why live at all? Read more ⇢
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If Pain Makes You Avoid Exercise, You’ll Gain More of It
A recent study of people with CMT who engaged in athletic activities at least once a week (mostly gym workouts) for at least six months showed their pain levels were… Read more ⇢
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New Gene (PSAT1) Linked to Treatable CMT-like Outcomes
Two new and treatable cases of peripheral neuropathy reported in children raise more questions about the definition and diagnosis of CMT types. Read more ⇢
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Physical Assessments for CMT
There are several validated assessment instruments for CMT to take stock of its current and later states of progression. Read more ⇢
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CMT, Depression, and Anxiety
It’s not surprising to learn from another (and more detailed) study (summarized here) than I’ve seen before that people with CMT are very often dealing with depression and/or anxiety, especially… Read more ⇢
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What does it mean to consider yourself disabled?
Many of us can say both yes and no, feeling both as true and false. Read more ⇢
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The Healthy Creative Balance: Between Unreason and Overthinking
“It seems that the key to creative cognition is opening up the floodgates and letting in as much information as possible.” Read more ⇢
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Crip Time
What would a calendar look like that prioritized and protected caregiving? What about one that understood … different types of relationships and the soft but consistent focus they demand? That… Read more ⇢
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Conference Videos Worth Watching
The 2022 CMT Patient and Research Summit has all its session recordings online now. These are mostly research-oriented, but not all. It’s good to see a few sessions on therapy… Read more ⇢
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CMTA Toronto Upcoming Events • CMT Awareness Month • Learning to slow down and attend to your needs • Existential anxiety
The Toronto chapter of the CMTA has regular meetings and events that can be joined remotely with Zoom. On Saturday, September 24 from 1-3pm EST their guest speaker will be… Read more ⇢
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Asking for the ADA Suite
The hotel receptionist said there was a generator running near my room. In fact there was a giant truck with a generator and air conditioning system running 24/7 right outside… Read more ⇢
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How long can you afford to hide it?
It’s too much trouble and humiliation to explain and ask for a little help or tolerance when hiding a disability and lumping it is how you’ve learned to cope best.… Read more ⇢
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Lord Grizzly
Here is one of the CMT-related poems I’ve written. There aren’t many. This was the first and is surely the longest. It’s in the long-line style of James Schuyler, who… Read more ⇢
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Disease, Depression, and Family Denial
CMT and other hideable/hidden diseases may often be denied by the people closest to you — a potentially devastating, psychologically defeating, and depressing, gaslit reality that is toxic and abusive. Read more ⇢
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Walk4CMT is coming up on September 18!
I will be walking as far as I comfortably can in Muscular Dystrophy Canada’s Virtual Walk4CMT on Saturday, September 18 — which is somewhere north of 20km at which point… Read more ⇢
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BILLYs
Thick sole, wide toe box, big ankle support, and the upper unzips to fold open for easy access and orthotic insertion. What’s not to like about BILLYs? Read more ⇢
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The “first treatable” form of CMT?
I wrote this brief article on the way the SORD gene works (or fails to work) for the Hereditary Neuropathy Foundation. SORD mutations cause “the most common autosomal recessive form… Read more ⇢
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All types of CMT are “Axonal”
CMT1 types have commonly been referred to as “demyelinating” and CMT2 as “axonal,” which gives the impression the nature of the nerve damage between the two is fundamentally different. Read more ⇢
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New Canadian CMT Resources
At some point I’d like to create a page of CMT resources in Canada just to present that all in one place. If you have anything or anyone you think… Read more ⇢
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The Problem With Writing About CMT
I’ve been increasingly irritated lately by US-based CMT-related non-profit organizations that seem to compete with each other for donations — supposedly they drive research for “treatments and cures.” How well… Read more ⇢
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Maybe it will work on CMT..?
It seems the new hope for VM202 as a CMT1a treatment is perhaps Hellxmith’s latest attempt to find a market for an experimental product that has not panned out as… Read more ⇢
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CMT Blogs of Note
Two blogs about CMT I found recently: the MFN2 Project and Help Chronic Pain in Alberta. Read more ⇢
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CMT’s Impact on Respiration
Many people with CMT report having problems with breathing. Read more ⇢
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New Study of Genetic Causes of CMT Needs Participants
The Rare Diseases Network is looking for participants in a new study looking for unknown causes of the most common types of CMT. Read more ⇢
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A new discovery of a genetic cause (and likely cure) for a previously unknown subtype of CMT2
Published in Nature Genetics last month, the INC group’s findings are a big deal, and there is a really cool story from the University of Miami’s Miller School of Medicine… Read more ⇢
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CMT Research and Support Organizations in Canada
There are not a lot of Canadian groups and resources organized for people with CMT. How can we build this community? Read more ⇢
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CMT and COVID-19
The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire. Read more ⇢
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CMT, COVID-19, and Respiratory Health
A few weekends ago, I listened to the HNF webinar on COVID-19 and CMT with Dr. John Bach of Rutgers University Medical School, a leader in the field of pulmonary… Read more ⇢
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SIIT and CMT
By far the best thing to do to build mitochondria from an exercise perspective is something called Sub-maximal Intensity Interval Training (SIIT). Read more ⇢
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Never Get Sick!
Here’s my list of immune boosters and ear-nose-throat (ENT) soothers and cleansers — good in every flu and cold season for prevention and healing. Read more ⇢
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CMT’s Impact on Quality of Life Can Be Slight
Even though the measurable electrophysiological impact of CMT1A is high, the subjective level of experienced disability is pretty low, given the ways you can learn to compensate. Read more ⇢
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Genetic Cause of CMT2 Discovered?
A recent study published in the Journal of Clinical Investigation looked at two unrelated families with CMT2 and identified “autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1)”… Read more ⇢
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Late Diagnoses
In the past the norm was we didn’t get a diagnosis, so family and friends just shrugged it off and called us “clumsy” or pretended nothing was wrong. I hope… Read more ⇢
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Dining in the Dark
Blind dining means you enter a restaurant that is completely pitch dark from beginning to end, and you are served by a waitstaff who are literally blind. Read more ⇢
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ACE-083 Trials Show No Benefit
Acceleron Pharma Inc’s ACE-083 drug trials “did not achieve statistically significant improvements in functional endpoints relative to placebo” with CMT patients, so it will no longer be developed. Read more ⇢
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CMT and Respiratory Dysfunction
Science is starting to confirm very wide ranging effects to the nerve damage CMT does, often slowly and over time so it may not be very noticeable for many years. Read more ⇢
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Book Review: Shades of Loneliness
Shades of Loneliness offers some insight into why we medicalize people and disorders we can’t integrate into society by normal means. Read more ⇢
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Video short on CMT – Rare Film Festival
This is a great, short video that explains the basics of CMT — made by students at the University of Greenwich for the first “Rare Film Festival,” put on by… Read more ⇢
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Do I Have Sleep Apnea?
Previously I mentioned and linked to several of the self-tests that can be done to check the likelihood of having sleep apnea. One of these self-evaluation tests is called STOP-BANG,… Read more ⇢
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New Genetic Diagnostics for CMT
Here’s an informative article from the Hereditary Neuropathy Foundation (HNF) about current best practices in genetic diagnosis of CMT. A lot of examples are given of people with less common… Read more ⇢
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Second Phase 3 Clinical Trial for CMT1A “Pleodrug”
After the setback of having to do a second Phase 3 clinical trial, Pharnext’s ongoing drug trials for PXT3003 show positive results in people with CMT1A. Read more ⇢
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Should I play the didgeridoo (or harmonica) to fight sleep apnea‽
Some recent studies on obstructive sleep apnea got attention for concluding something fairly obvious — losing weight and reducing fat in the tongue might be the best treatment for OSA. Read more ⇢
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Reading (and Writing) about Disability
Over at Electric Literature, Robert Kingett recently reviewed a bunch of literary anthologies written by, for, and about disabled people. These are essays and fictional works from the young adult… Read more ⇢
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Respiratory Problems and CMT
Earlier in life, relatively healthy people with CMT can overlook signs of compromised respiratory function which will start to cause more and more problems for them later. Read more ⇢
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Sleep Apnea and CMT
Studies show CMT tends to come with Disturbed Sleep, Depression, and Reduced Quality of Life. 😞 This post summarizes the scientific research I’ve absorbed on the subject of CMT and… Read more ⇢
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The State of Research for Cures (2019)
The US-based CMTA (Charcot Marie Tooth Association) has a 12-year-old program called the Strategy to Accelerate Research (STAR) that is actively pursuing the causes and possible cures for CMT. STAR… Read more ⇢
