accepting and adjusting to diagnosis

December 22, 2006

Carmella:

No members of my mother's side of the family have CMT -- however, it is possible

that someone on my father's side did. He is deceased and I've never met any of

his family. So, the question of whether mine is part of a family trait or is a

spontaneous mutation will remain unanswered.

My history is complicated by the fact that I also had a tethered spinal cord

which is a neural tube defect in the family of spina bifida. I had it

surgically released four years ago, but I have nerve damage from that (cauda

equina syndrome) in addition to the CMT.

When my neuro got the results from Athena he said it is most likely CMT1B, but

because it is an unknown variant, it could be one of the others that involve

demylenation and the MPZ gene. There is no treatment at present. So, I just

learn as much as I can about demylenation, and remain hopeful that someday,

there will be a treatment. I'm 49, and was not diagnosed with CMT until a year

ago.

We all have different issues -- while there are similarities and hallmarks for

each type of CMT, each one of us is different in terms of how we are affected.

I could list all my symptoms and problems for you, but they are not what is

important for you and your family now.

Accepting and adapting to the diagnosis is a process that is also different for

everyone. There are two bottom line things that have been extremely difficult,

but beneficial for me to accept. And there continue to be times when I have to

accept them all over again.

1) Progression and rate of progression is uncertain. You cannot plan for it.

You simply monitor it and adjust accordingly. It's gonna be what it's gonna be.

2) There is no magic bullet cure -- even if treatments are developed. We have

to provide our own treatment in the way that we listen to our bodies and take

care of ourselves. For me that means working hard, having fun, volunteering --

doing my life -- with a whole lot of adjustments and as many naps as possible.

Hope that helps.

Tami

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