A little info?

[Guest guest]

Hi all.. I have been asked to give you " some " info about myself.. (thanks a

lot G) so here it goes..

My name is Ernie Z. and I live in upstate NY, USA. I work full time as a state

certified Water Treatment Plant Operator. I run the water treatment plants and

distribution systems for 13 mobile home parks in the area, 1000 + homes total.

(If I can help anyone with their questions about, or problems with their home

systems, PLEASE ask.. I will be glad to help if I can.) I am 43, married, have

a wonderful wife and 5 children. A 22 year old daughter, A 20 year old son

(neither of which show any signs at this point) Gee.. after re-reading that

statement, it makes me wonder about that paper boy we had... OUCH.. Yes dear..

NOoo dear.. I am not suggesting anything dear.. (boy can she swat hard). We

also have a 19 year old daughter that shows very mild signs " much more in her

left foot now, but that's another story " and a 17 year old son that has a little

worse signs than I did at his age. Our newest addition is a little girl that is

7 months old.. and boy is she a handful at my age.. hehe Must be brain damage

is another problem that goes along with CMT too.. LOL

My mom has CMT and has been in a wheelchair for about 10 years now.. I had

always known that something was " wrong " with me/us.. but never really had a

name for it. It was suggested by one of the many doctors that we had taken our

kids to over the years, that it was probably CCD.. Central Core Disease. After

finding out that those that have CCD usually have a real problem with some

anesthesia's, called Malignant Hyperthermia... (your muscles go ridged and your

temp can go from 98 to 108 in the matter of a couple of minutes while on the

operating table) I decided it was time to find out once and for all what the

heck we actually had.

I didn't get my official Dx. till this past April by doing an NCV and an EMG..

" it will feel like a shock from an electric fence " .. so she said... MY BUTT..

" What the heck are you trying to hold back in your little corral.. an

elephant????? " She just giggled... and kept on shocking me.. nice nurse!!!

NOT

The Dx. came back CMT type 2.. more than likely 2A. The first of June of this

year, Athena Diagnostics came out with a DNA sequencing test for type 2. My

neuro Doc. wanted me to get the blood test done so we could get a base line for

my family. From there we would be able to test all of the family members by a

simple blood test (no EMG's or NCV's for them... the lucky stiffs). The results

are in (I'm sure) but I have not been back to Doc. yet.. My next apt. was

scheduled for next week but his office canceled it and has not rescheduled it as

of yet.. I will keep you up to date, if you want, on the results.

Officially, I am the only one in our family with a Dx... but from the signs..

Mom and two of the kids have it so far.

Our version, mainly affects the feet and legs with the hands and arms giving

out, later in life. High arches, no running, steps without hand rails to " pull

yourself up " are out of the question...etc..etc.. I have just started to notice

that my right thumb and forefinger are getting weaker and I am loosing my strong

grip in both hands.

I never really paid any attention to the sensory portion of it all, till lately.

I have come home cut, bleeding or bruised many a time over the years and had no

idea where or how I had gotten that way. CMT strikes again, I just thought that

was normal.

I did wind up in a motorcycle accident back in '94.. (a kid ran a red light and

broad-sided me on my bike) and now I have a rod that runs from my left knee to

my ankle. The EMG test showed that my left leg, from just above the knee down

to my foot, is basically dead.. I have no idea if it's a result of the CMT

itself, or from the accident that progressed the CMT that much faster. The rod

itself doesn't bother too much (wanna know what the weather is going to be like,

just ask me to visit ya).. but the cold winter weather here in the north east is

getting harder and harder to deal with. Since I am on call 24/7.. I usually

find myself out in the worst of it in the winter time.

I will say that fatigue has been a factor the last few years, but I am trying to

learn how to pace myself better (try pacing yourself when a water system is down

and 100+ people are screaming at you) and that seems to help some. Not as much

as a good nights sleep though. I have been given a CPAP machine about 6 weeks

ago and that does help me quite a bit to get a good nights sleep.

Muscle spasms and cramps are starting to get to me just a little lately and I

was wondering if any of the other members would like to let me know how they are

dealing with them. The last time I asked Doc. about them, he just said that

" any overworked muscle will spasm and/or cramp " . True words I'm sure, but that

doesn't help much at 3 AM while you are laying doubled over on the bedroom floor

from a leg cramp. I have heard some talk of meds that are available??

Basically, we as a family have never really let our " problems " keep us from

doing most anything we want to do. There are some limitations, but you only

live life once " as far as we know for sure " and you might just as well enjoy it

to the fullest...... We try to keep a good outlook on life, and to keep

smiling.. besides, it makes people wonder what you have been up to.. HEHEHE

So, that's my story.. such as it is.. sorry for taking up so much of your

time.. but " G " , you did ask for it.. LOL

Ernie