testing kids for CMT

[Guest guest]

Hi ,

I was just wondering if you had all of your children tested for CMT. I was just

diagnosed. None of my children (ages 26, 14, 12) are exhibiting any symptoms.

We are not sure we want them tested

simply because we don't want them to be labeled with a disability.

Not because of others but because we don't want to let it sychologically hinder

their activity, etc.

Just thought you could share some of your thoughts and experiences if

you don't mind.

Patty

[Guest guest]

Patty:

While not quite your circumstances, I have a 7 and 5 year old,

both of whom we had tested from birth (my wife was diagnosed with CMT

in her childhood, so we knew it was 50/50 that our children would

inherit the disease). As luck would have it, both were diagnosed with

CMT.

There were a number of reasons we had them tested. First, we

thought knowing would be easier than constantly wondering and

questioning whether their inability to do some physical acitivity was

as a result of CMT or something else.

Second, we knew that there were different strategies for helping anyone with a

disability, from physical to occupational therapy to just understanding the

disability and developing successful strategies for dealing with and overcoming

it.

Third, we wanted to make sure we were involved early if there were

any chance of a cure or reducing the effects of the disease. While

neither are too effected by the disease at this point -- both are

highly functioning -- we already have gained from the knowledge of

knowing they have CMT.

They both wear shoe orthotics (patty bobs) to improve their gait, we do

stretching exercises with them, we have encouraged swimming, yoga, and karate as

opposed to others sports, and they each take daily mega-doses of vitamin C. We

also take them yearly to specialists at the MDA clinic to gauge whether they are

improving or worsening and to determine whether there is something else we

should be

doing to help them adjust.

I am very glad that we know.

Brad.

[Guest guest]

Hi Patty

You asked a questions about testing your children for CMT.

I had a chance this week to meet with a geneticist at Hopkins to

discuss my genetic tests results. Hopkins is quite interested in

testing my family because the medical community is still trying to

track down the inheritance pattern of one of my genetic anaomolis.

BUT, they would not consider testing my asymptomatic children and

will only test my symptomatic sibs, mom and cousins. I live in

land and we currently have laws protecting us against pre-

existing conditions exclusion clauses, but there are no federal

protections in place at this time. So if my kids chose to move out-

of-state when they are adults, or if land rescinds its

protections, could be denied to them.

Seek the advice of a geneticist before making this kind of decision. If our

children have CMT, there's little we can do for them at this point beyond

stressing the importance of a living a healthy, productive life, which we're

already doing.

Helen

[Guest guest]

Hi Patty,

I have 5 children. I have never had any tests run on any of them. My doctor

was able to look at three of them and diagnose CMT. My other two he said that

it doesn't look like they have CMT and if they did he would be surprised.

Our type of CMT has shown up by age 4. My youngest is 9 now and a track star

My oldest is 21 and as strong as an ox.

Two out of five.. Oh track try outs were emotional for me. I was so happy

for my 9 yr old so happy that he could run and so very sad for my CMT boys

that have never been able to run

I was sad, happy, sad, happy the whole time. LOL

[Guest guest]

Hi,

I'm not , but thought I'd put my 2 cents worth in. I first

noticed my daughter, Cara, having problems in February, so took her

to a neurologist. He did DNA testing on me, which came back

positive (no surprise there!). He will not positively diagnose my

14 year old as having CMT. He cites concerns in the future with

disability and medical insurance. The diagnosis, or lack thereof,

hasn't changed her physical abilities, but it has brought the

knowledge that she has CMT to her mind, along with the unanswerable

questions and uncertainty. In some ways a good thing, but hard to

accept when protecting her has been my job for so long.

We did benefit from seeing him in that they helped with resources

and with things like selecting proper shoes to help minimize the

number of twisted ankles she has - when I took her in, she had

already damaged one of her ligaments in her right ankle beyond

repair. I hadn't been seen since my initial diagnosis about 15

years ago. I've started having more problems with my hands, but

hadn't thought about ways to make life easier - zipper pulls, velcro

fasteners, pull over shirts instead of button up, etc. They gave me

a few ideas to help in those areas.

I think I would only worry about testing if they start showing

symptoms. When they are old enough to start a family, you may want

to talk to them about possibly being tested. Even if they aren't

exhibiting symptoms, they could have a mild case and could pass it

on to their children.

I hope this helps. If you have any questions about any of it,

please let me know.

Tonya

[Guest guest]

Hi

I'm going to put my two cents in also. Didn't read the original e-mail but have

read subsequent ones. I was diagnosed with CMT 1A as a young child, before age

7. So I have always known about it and as I got older and there started to be

things I couldn't so, I knew it was the CMT.

I have three children and my eldest, almost 11, and my 5 yr old were tested at

about 8 months old. My 5 yr old doesn't have it. My 10 yr old does. I didn't

bother testing my almost 5 yr old because I didn't think he had but one day mum

said I should get him tested because of the way he is walking.

So when he was two I had him tested. None of the Drs here refused to test my

children and I find it shocking that any Dr especially a larger country than

mine would. Anyway, my 4 yr old does have it also.

I decided to test them as soon as I could so that if they did have it I knew

what I was dealing with, I could get myself steeled for the bullying that I know

will come when it really starts affecting them which is now happening with my

eldest.

You see, I cannot have them go through the crap that I went through at school

just because of some stupid disease that they have no

control over. It got bad enough with my eldest that I started

home-schooling her last yr. Well, lol, that went down the tubes and she is now

back at school but I know I have that option later on.

I have had surgery to correct the deformity in one foot and am waiting for my

other foot to be done. My two with CMT have an appointment in November to see

my surgeon also, but he says it is best done in early teens.

Anyway, that's my two cents.

Megs from New Zealand.