My son has just turned two. He has never crawled, pulled himself up or sat himself down but walked at the age of 11 months. He has flat feet which turn inwards and falls over constantly. His dad was diagnosed with CMT at the age of 15. Our son constantly crys with his legs and they just give way. So we took our son to the GP and they referred him to a consultant. To cut a long story short the consultant told us he is almost certain our son has CMT but he needs a genetic test in 2 weeks to confirm it. Has anyone else got Children the same as that has had a genetic test and what happened? Thank you
Children with CMT: My son has just... - Charcot-Marie-Too...
Children with CMT
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Hi
Our son had tests done at the age of three which lead to his CMT diagnosis. The genetic test was just a blood test, not pleasant for a child but they will normally apply cream or spray to numb the skin so it doesn't hurt so much and the nurses are usually very good. They can then test the gene mutation that usually causes CMT. I have been told that it is quite important to have a diagnosis, for your own knowledge and for receiving benefits and support. Our son also had a nerve conduction test done but I think this was only because there was no case of CMT in the family (his is not inherited but spontaneous mutation) and they were looking for other things.
Our son is now 8 and cannot remember these tests, so perhaps better do them when young enough. Good luck!
My sin is now 14 & he doesn't remember. The genetics test is by blood work. My husband & I had to be tested when his results came back that he has CMT type 2. His a very smart kid. He always asked all the questions to the doctor. My husband came back with the CMT. That's the reason why he was always hurting. My son is a strong kid.