Is testing on children wise or useful?

[Zoe-Leanne]

I have a 14 month old daughter, she has no signs of CMT, but I want to know if she has the genes for CMT, It sounds silly but I will know then if Ive passed this onto her then!

I dont know what to do to convince doctors?

Or if its worth trying to convince them in the 1st place?

[CMTerSam Volunteer]

Hi Zoe-Leanne,

People have differing opinions, as have doctors. From what I've heard, many doctors will not even consider testing a child if they are showing now symptoms.

In my opinion, with CMT, nothing is gained by testing if they don't show symptoms.

If they start showing signs of CMT, THEN is the time to start managing the symptoms (physio/bracing etc etc) and start testing.

I know Karen Butcher (CMT UK Secretary AKA Boss Woman!) has 2 children both "with" the CMT gene (proven through testing)... HOWEVER, only one of her children (Cathy) has become symptomatic, with her other (Jason) not showing ANY symptoms or having any problems. So this is also maybe another reason for not testing (as it doesn't guarantee that a positive result will equal a symptomatic child).

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I CAN understand that you want to set your mind at rest and maybe it's not what you want to hear. After all if you are desperate to know you can only try and ask...

[CMTUnitedKindom Partner]

Thank you Sam - glad you know your place, its Boss Woman here!!!!

Whilst clinically, Sam is right, there is nothing to gain from having children testing asymptomatically, I believe that you should be able to go ahead and get it done if you wish, but as Sam also said, many doctors won't do this. There are a mixture of reasons for not doing do it - ethical issues, you're taking away the child's right to find out later ( which I think is crazy); the fact that there is no clinical reason why it is helpful; and the apparent fact that we mothers are crazy, overprotective idiots who will smother our children if they may have a potential disability - a view which I find very offensive. If anything, I did the opposite with mine - more on the lines of "get on with it, life is tough get used to it"!!

So in the first instaance, I would talk to your GP about it, or even your health visitor, if they are supportive. Then it would be a matter of a referral to a geneticist for counselling, probably, and then, and only then, you may get your daughter tested. I have also heard that the NHS are testing less these days because of the cost, but I don't know if that is true.

The other thing to mention, which we probably have said first - it does also depend on what type you have, because only certain types can be tested for - 1a being the easiest to do. You may need to be tested first to establish your type, before they will contemplate your daughter.

Hope all this waffle helps - best of luck whatever you decide to do

Karen (boss lady!)

[Alioops78]

Hi Zoe-leanne

Just to add hubby and I are going to be trying for a child in a few months and have seen a genetic counselor who gave us so much helpful information about our options it was a great visit. As we have decided to do things naturally she has said to let them know when I am pregnant as they'll give me the request to test the cord blood as she said that if we test or don't test we'll be looking for symptoms which I think is true.

We'll be doing this for our own piece of mind so I would try to get the testing done but it is true what Karen says about the cost of testing as my neurologist here (diagnosed in Australia) wouldn't do any testing but the genetic counselor did without hesitation.

Good luck

Alison

[CMTerSam Volunteer]

*sticks tongue out at Karen* lol

Zoe-Leanne, Yes, I do agree that you should have the choice, should have said this too!... I notice you've answered the "what type of CMT do you have" question stating that you do not know.

This will make things more difficult to start looking at your daughter as they need to know your type in order to test for the same type in her (if, as Karen says, there is even testing available for that type).

I may be speculating but trying to think logically, I don't think Nerve Conduction Studies would be of any use in someone who is asymptomatic simply because her nerves won't be affected yet... but I may be understanding that wrong (besides, I wouldn't want to put a little baby through that myself!) ... (Nerve Conduction Studies are used to determine whether you have axonal or demylinating CMT, but won't tell you the exact sub-type).

[Alioops78]

Ps my older sister has the gene but it's dormant in her and she has 3 kids that don't seem affected either but think she's waiting to find out as I didn't present til puberty.

[CMTerSam Volunteer]

My Neurologist told me about the lack of funding for testing... they will only test if there are children involved (i.e. looking to have a kiddy) . Other Trusts may be different though x

[CMTUnitedKindom Partner]

Zoe-Leanne - as Sam says (we're parroting each other here!) without a definite diagnosis yourself, it's going to be nigh on impossible to test your little'un - unless you can pin down your type, you're going to have to forget about testing.

So - forget what I said above about talking to your GP about your daughter, talk to him about a referral to a neurologist or geneticist to see if they can get a handle on your type.

Then, and only then, if you have a type that can be tested for, you can talk about your daughter.

Alison - I'm glad to hear that some genetic clincs are supportive and understanding about testing - my son was tested using cord blood, and believe me, it was a hell of a lot easier than my daughter, who was 8 months old when she was tested. Imagine - a blood test on a baby - it's a wonder the hospital is still standing, she screamed so much.

And Sam's sort of right about nerve conduction - as far as I understand it, nerve conduction velocities deteriorate (in a person with the defective gene, even with no symptoms) between birth and around the age of 5, I believe. This happens even if there are no symptoms, because slow nerve conduction doesn't in itself cause the symptoms of CMT, it's only once that slowness damages the nerves do you start to lose function. And there is no way I'd put a young child through them, they are painful and invasive. My daughter had her first ones last year (at 18!) and moaned like hell!!

Karen

[Zoe-Leanne]

Thanks everyone, yes i guess there is fors and againsts in the testing on children.

I have had a letter through the post to tell me I have an appointment at the Genetics Clinic to discuss furture action, as im in 2 minds, I want her tested to put my mind at rest but then again I dont want to put her through it, but I dont think the doctors will go ahead because when previously discussed with orthotist doctor, he said there isnt much point as some hospitals dont want to test, but at the end of the day I will of course listen to what the doctors have to say and come to an agreement with them (which will probably be not to test)

Thanks everyone!

[HorshamMalc]

Hi I have three teenaged daughters, one 17 year old and 16 year old twins. The eldest has definite signs of CMT, she walks like I do, and my father did. My wife and I took the positive decision not to have her tested.There's nothing can be done for her medically and the best treatment, as we all know, is keeping fit and active. If she were to be genetically tested, and almost certainly shown to have CMT, this could have all sorts of ramifications in terms of job opportunities, insurance, etc for no benefit. If in the future some new wonder treatment should come along that's available on the NHS, then I'd encourage her to be tested, otherwise it's better kept to herself for now.

[KarenNic]

I have three children, two boys and a girl. I had the gene mapping done recently and was told that my daughter, who shows no symptoms, is a carrier of the faulty gene, and both sons have it, one much worse than the other. I have told both the boys not to get tested...purely from an insurance perspective. I can no longer get any kind of life insurance like the person above so I wouldn't encourage children to take it forward until it really starts to affect their daily life.

[spabbygirl]

I didn't have any tested as young childen because of the difficulty in getting blood out of a small child! But my son started to show mild symptoms age 12ish and school were pushing him to do football which he struggled with & he asked to be tested and was. I told the school and asked them to amend their records and we still had an irate teacher ring me to say James insists he has a condition & doesn't want to do PE and he was expecting to prove James wrong! We insisted he didn't do competitive sports, but do golf instead.

With 13 yr old Natasha I didn't push to get her tested young cos of the difficulty of getting a blood sample (we have type 1A) but I was also told by a genetic consultant he worried that if the result was positive I would sit her in a chair for the rest of her life and molly coddle her too much! I did object to that, it is absolute rubbish! Like Karen I belong to the 'get on with it!' school of coping! Anyway we didn't push cos of the difficulty of getting a blood sample, but we might ask again now cos she gets tired quite a lot.

[John1945]

Hello Zoe-Leane....

Please get a copy of C.M.T.'s book called "Living with C.M.T." which is regularly updated:

If you suspect that your child has C.M.T. which usually does not start to display some of its symptoms until puberty, or their teenage years, therfor I suggest that you leave the tests until then:

WHY HANG A "I HAVE CMT LABEL" ON THEM AT SUCH AN EARLY STAGE IN THEIR YOUNG LIVES ?

The tests are very expensive for the N.H.S. and all the results should co-ordinated, and evaluated by a N.H.S. neurologist:

C.M.T. does not present any life threat: The test's results will only tell the health professional exactly what sub-type of C.M.T. they actually have for their medical records!

Please also remember that most NHS health professionals have never heard of C.M.T. never mind them trying to diagnose this 'disease' :

At present there is no cure for C.M.T. the test(s) will require that fairly large phials of blood will require to be drawn from the child, to allow laboratory analysis:

Surely you would not subject your child to a 'NERVE CONDUCTION (VELOCITY) TESTS', as they can be very painful:

The only way forward, is for each Cmt sufferer defeat this 'neurological-disease' is to adopt a most, "POSITIVE-MAGEMENT-APPROACH", to each debilitation stage of this most frustrating of disease's:

Some sufferers will have minor / moderate / major symptoms, with many variations in clinical symptoms: I am also totally shocked that a pregnant mother would even consider having her unborn child tested: NO-NO-NO ?

best of luck .....

John (Glasgow) .....

[Ladywonder]

Zoe Leanne just curious this post is from 5 years ago did you have her tested ? Also if you didn't get her life insurance now because if you did and was found positive most insurance companies will not approve insurance so I believe insuring your child at a very young age is best so when they become older start family of their own it's already in place. If this makes any sense to you .