Re: Testing CMT 1A

[Guest guest]

Heidi,

I know exactly how you feel, my son was 5 years old when I asked the doctor to

test him, he told my son to walk up the hall for him, then told me there was

nothing wrong with him. I knew he had it, he was constantly falling, his feet

showed no deformity at the time. That was the doctors' excuse for not getting

him the test.

A couple of years later I took him to a children's hospital and the

done the test and sure enough he had CMT. This same doctor did

surgery on my ankle when I broke it not by my choice, it was a emergency

surgery, now if I have any problems with my ankle, he tells me well you had

trouble with your feet and legs before this injury. He don't want to admit that

he done anything wrong. And believe me I don't see him anymore. Good Luck on

the test.

Sue

[Guest guest]

Hi Heidi & Gretchen,

When I first went through the MDA clinic the first thing they did was a DNA test

and it was the same place and same Doctor that did the DNA test on my Father and

Sister and they both have it plus I had an EMG the proved I had CMT so I guess

every MDA clinic is different and every Doctor has his own opinion that is why I

don't go to the MDA clinic because of what the Head Doctor said to me the last

time I was there. So now I found a nice neuorologist and I will follow up with

her once or twice a year.

Tommy

[Guest guest]

Hi Heidi:

When we weren't sure if Gavin's CMT 1A was due to a spontaneous mutation (it is)

or in my family, my sister and her husband discussed with their pediatrician

about testing for their boys. He said, as did the genetic counsellor we saw (at

the hospital not MDA), that it is not encouraged to test asymptomatic children

for a major reason...if you know they are positive, if symptoms don't develop

for years or even decades, you cannot help treating them differently now and

that will alter and colour how you live your life..consciously or not.

There are always exceptions and you have to know what is right for you.

Sincerely

Sally

[Guest guest]

Hello Sally,

I believe it is crucial in my family to know immediately as it relieves our " not

knowing " . I am a person whom needs to know and feels the children have the right

to know. Also having insurance right now is important factor given the fact of

the price of the CMT. If I choose to wait until the children become adults they

may not have the finances to afford the test and then where would they be?

" Not knowing " no diagnosis and possible thinking they have lost their

minds. If I am understanding you correctly in your statement " that it is not

encouraged to test asymptomatic children for a major reason...if you know they

are positive, if symptoms don't develop for years or even decades, you cannot

help treating them differently now and that will alter and colour how you live

your life..consciously or not. "

My personal response to this is as my strong personality is evidence and is not

to attack in anyway but only the truth.

1. People that truly know me for who I am and what I do would know that I treat

all people the same/equal. It has no barring to me whether they have " Physical

or emotional " challenges or not. I like people for who they are inside.

2. I do not treat my children " sympathetically " if they have CMT----it is just

the opposite which is well evidenced by my son who is 13---(he is driving me

nuts) He is an exact replica of me, strong minded, outgoing, ready to conquer

the world, willing to help others, active in his social life, needs the freedom

to be himself and has just that.

3. Society has a poor perception in thinking that just because we have children

whom have CMT we should pity them. NO WE SHOULD NOT. If people do that they are

doing the worse thing that they could possibly do DESTROY THEIR LIVES forever!!!

I am very strict with my children all of them. I encourage and make my children

exercise of some sort every day whether it be bike riding, swimming, walking ,

etc. They are not allowed to feel sorry for themselves as this is

unconstructive. Do we have hard days YES don't we all?

We must encourage, strenthen, show advocate skills, persevere for the

future of our children. So if we had the mind to sit around not knowing the

truth we are in COMPLETE DENIAL of what is right in front of us---a CHALLENGE.

Without challenges we will become stagnant and possible become inside of

ourselves afraid to face the world.

5. I have chosen in some form or another to have cmt and I accept it. Did I have

a grief process to go along with it? YOU BETCHA!!

6. It is better knowing as a child with CMT than to be an adult just finding

out. As an adult finding out you grow up thinking that there is something wrong

with you mentally because there are no answers to why you feel the way you do. I

know I was this person I was 28 when I finally found out I had CMT.

7. I am determined to educate my children all of them with and without CMT about

people with " issues " and they will better people for accepting people for who

they are not for what they have. Look deep inside your little boy and get to

know him for all he can do not what he can not do. Each day is a gift, hold that

gift in your hand and squeeze it hard never let it leave your spirit.

Thank you for listening,

Heidi

[Guest guest]

Hello Sue,

Thanks for the support!! I believe everyone has the right to know if

their child has a " condition " or not, especially if there is a history of it!

Advocating for our children is the best we can do for them!

Thanks

Heidi

[Guest guest]

Wow a nice neurologist!! I have not found one with a bedside manner yet! When

I do I will thank my lucky stars!!

Thanks

Heidi

[Guest guest]

Hi Heidi:

Just to clarify...the quote you've noted below was the doctor's response to

us...I was just giving you what we had heard from the doctor's perspective.

Not to say that I agree with it. I was in no way suggesting that you

personally would treat others differently, just that that was the

perspective mentioned from the doctor's position. They of course are not taking

individualism in account (a problem for all medical practice not just

neurology). Every individual has a right to do what they think I best. I know

it would drive me nuts not knowing, if I had CMT myself. (it certainly drives me

crazy that there can be no predictive clinical prognosis due to the extreme

variability. Even a well respected book on neuromuscular disorders said that no

general statements can be made with a disease like this)

I think you are so right about pt 3.Our kids must be treated the same as other

kids, challenged, cuddled, loved, disciplined, encouraged. We've seen a wide

variation in reactions, from a 'wrap them in cotton wool and keep them safe from

the world' perspective to a 'if a child doesn't look really disabled, there

can't be anything wrong'

denial perspective, both attitudes equally harmful to a child's

development.

Thanks also for the perspective on growing up not knowing what is wrong. As

Gavin is a spontaneous mutation neither Rob nor I can bring a perspective like

that. We can't know what he's experiencing and that is hard at times. For us its

all guesswork.

Thanks so much for such a positive perspective. All the best and I'm here to

listen anytime.

Cheers

Sally