The one where I explain Charcot-Marie-Tooth, a condition I live with

I have CMT (Charcot-Marie-Tooth) I’ve mentioned it in passing a few times. I was born with it, it’s also called Hereditary Motor and Sensory Neuropathy (which sounds both scarier and slightly cooler imo) and that name, rather than CMT (named for the three Drs that identified it) describes more about what it is. It affects the nerves (neuropathy) , it’s there from birth and is passed on (hereditary), and it affects both movement (motor) and feeling (sensory).

The nerves are affected in CMT type 1a (my type) much the same way as they are in MS (Multiple Sclerosis) The myelin sheath (like the plastic cover over an electric cable) gradually degrades over time, electricity leaks out during nerve impulses, so they are weedier, slower and generally rubbish. It affects periphery nerves though, not central ones, so the earliest signs are hands and feet having less feeling and movement.

I showed symptoms at 12, mostly poor balance, and ‘odd walk’ but wasn’t diagnosed until I was 35 and had just had DD. Pregnancy had made the symptoms slightly worse. I have previously had operations on my clawed toes but it had been attributed to ‘bad shoes as a child’, now my hands had started to claw too so the orthopaedic surgeon referred me to a neurologist who diagnosed me first by my walk as I walked into the office! CMT was confirmed by electrical nerve stimulation tests and finally a blood test.

Me in my late teens, ET hands even then!
I mainly have, constant tiredness (due to everything I do taking more effort that a ‘normal’ body). Skinny arms and legs, as the muscles work less well due to less nerve input. Poor posture, bad balance, funny walk, clawed hands….and am the weediest person I know. I need help to open bottles (!), sandwich packaging often defeats me, fine finger movements are WAY beyond me, (DD often has to help me button my shirts for example, once I couldn’t get out of a pair of jeans as I couldn’t undo the button!) I find pegging washing tricky and have to use a grip with my palm not finger and thumb to open a peg. Cashpoint machines and carpark ticket machines often don’t let the card/ticket poke out enough that I can grip it and I have to ask for help…

So, mostly I walk funny, I trip and fall often, (shush, this is nothing to do with the beer consumption) I get tired easily, I’m clumsy, and lots of silly ‘normal’ day to day tasks are tricky to do (though I find work arounds). I don’t (unfortunately) qualify for a blue badge, or any disability benefit. I work in IT. Typing is easier than writing, but cramps in my hands are getting more common.

 Ho hum.

 Hope that answered a few questions.

And if you have NEVER even heard of CMT why not forward this to at least 2 friends? (if you had, just forward it to 1)

Oh and I nearly forgot!! Check out Korea's Paralympic Swimmer Min Byeong-eon.

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