Don’t feel bad. I’m a nurse, and I knew nothing about the disease until after a diagnosis with it in my late 50s. In my experience, most doctors don’t know much about it either.
Charcot-Marie-Tooth disease (CMT) is an inherited neuromuscular disorder. It poses increasing challenges as one grows older. It is lifelong, and progressive.
CMT affects an estimated 1 in 2,500 people in the United States and 2.6 million people worldwide. There are at least 11 variations of the genetic disorder.
I have the most common type, which is CMT 1A. It causes a duplication of a gene called PMP22. Parents have a 50% chance of passing it down to their children.
Muscle weakness in the legs and feet can lead to foot deformities. Foot drop, high arches, and hammertoes are typical.
Calves and ankles begin to shrink, resembling an upside-down champagne bottle.
CMT of the arms and hands can make simple tasks like gripping or fastening clothing a challenge.
CMT can also cause numbness, burning, itching, and generalized fatigue.
When you live with CMT, you must learn to adapt to increasing limitations on an ongoing basis.
Everyone's experience with CMT varies depending on the degree of disability. While most people with CMT tend to have an average life expectancy. The condition usually impacts every aspect of their lives.
The illness is physical but may also bring about social and emotional difficulties.
If my doctors possessed better education about CMT, I would have had a diagnosis sooner. My self-esteem could have avoided many blows. I now want to educate people about CMT, especially doctors and nurses.
Clumsiness was CMT. Tight Achilles tendons and foot drop were CMT. Being unable to do pull-ups, water ski, or run fast; CMT.
Being diagnosed with CMT, I can look back and see so many things with clarity. I remember my mother walking funny and how we laughed at her behind her back. That was horrible.
An observant, knowledgeable physical medicine doctor made my diagnosis in 2015. My brother and son are now diagnosed with CMT 1A. Aside from those two individuals, no one in the family appears to have inherited the gene defect.
At 67, I rely on orthotics with clunky shoes and braces (which I admit I never wear). I’ve had a total of ten hip surgeries since my early twenties, but I’m still walking. I need help to open jars and occasionally with buttons or zippers.
Thanks to my supportive husband and family, I have had only transient depression. I now take each new test as it comes.
Genetic testing and artificial intelligence may soon deliver an effective preventive treatment. Who knows? A cure may be on the horizon.
Connecting with others who have CMT can provide significant emotional and social support. Online support groups include the CMT Association and the Hereditary Neuropathy Foundation.