You spend a few days on the couch feeling like crap. Your fever subsides. You’re a little coughy, but nothing you can’t handle. The body aches subside. You’re able to easily stay hydrated, so fatigue and lethargy subsides without much effort. After these few days, you’ve bounced right back because you’re healthy.
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)" in them — a likely cause for their CMT that was also backed up by experiments in mice. The CMT News site covers this in… Continue reading Genetic Cause of CMT2 Discovered?
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 this is an outlier experience, but I was pushed into sports, like track and cross country, in high school when my feet and ankles became obviously atrophied.
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.
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.
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.
My breathing is such that I run out of air easily in mid-sentence, and mid-word if I keep on pushing. I struggle to get a full breath, and I especially struggle to fully expel because of a weakened diaphragm. When my throat muscles and vocal cords collapse, air flow gets impeded, and I have to work harder to breathe. The most remedial of tasks destroys my breathing. The same destroys my voice, even if I haven’t been talking. It can take hours to recover, and sometimes days.
Shades of Loneliness offers some insight into why we medicalize people and disorders we can't integrate into society by normal means.
Of all the CMT misconceptions being fostered by the medical community and thereafter being proliferated by the masses, the misconception that CMT is a form of Muscular Dystrophy is the most difficult to overcome.
My goal is to pull you in and guide you through a smoothly flowing adventure that explores the profoundly complex world that is all things CMT, but to then render that world in easily relatable narratives that remove the veil of secrecy, and through narratives that expose the inherent mythicism of CMT.
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 Rare Disease UK.
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, and you can get it at the Harvard Medical School website.
