Story about Charcot-Marie-Tooth Disease .

Charcot Marie Tooth should be called "Awkward Sod Syndrome"

Feb 12, 2020

By: Daniel

Year Condition Began: 1972


My primary school teacher noticed me falling over more than other children and advised my parents. They sought help and were advised by a professional that I was simply lazy. I underwent electric shock tests in my early years and was eventually diagnosed with CMT, Type 1A, aged 6.
As the condition is passed on genetically, my father was found to have the same (he showed no symptoms), but my late grandparents refused tests, so the source of the condition will never be conclusively established (although I suspect I know from which branch of the family it came, not that it matters much now).
My feet became misshaped, my balance/walking was poor and I would trip/fall a lot. Sports Day was hellish and, because I couldn't play properly, football (our national sport) became a major dislike of mine.
Throughout my teenage years I underwent multiple foot fusions and then spinal surgery. Having limited mobility, I developed weight gain and wore special shoes (and for a time boots with calipers). My mobility declined and my spine curved. Then my hands started to change and now my motor functions are severely restricted.
Having feet/leg problems was bad, but then spinal difficulties added to the mix. When i started to lose use of my hands (and therefore the ability to pinch, shake hands, write and wipe my bottom), this started to affect my day-to-day living, including my work. In recently years I began to struggle with work and was medically retired by the government on capability grounds. I was able to find a less stressful and demanding job, but to have it confirmed that I am indeed a wreck was quite damning.
My biggest challenges are writing letters, removing lids from yogurt pots, doing up buttons, picking up a credit card, shaking hands, changing light bulbs, turning pages, standing still and using stairs.. all things that 'normal' people take for granted.
The future for my independence is concerning, especially now that my lung capacity has dropped to just 37% of the norm and I have the lungs of a 76 year old! (30 years my senior). When I lie on my back this drops to 17% and I use a machine to help me breathe at night now.
Charcot Marie Tooth is named after the 3 men who first diagnosed it in the late 1800s, but it would be more apt if it was called "Awkward Sod Syndrome", due to the effects it has on those who sufferer from it. The good news is that, in my family, it will be 'bred out' with me and therefore not passed on.
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