Has my daughter Cmt

Hi everyone my husband has cmt and his mother , my second daughter is excatly like him in her balance and if she is has a tempture she can't even stand or she will fall!! She is always falling in school her anckels are always sore and she has no reaction to her reflexes when the doctor banged. Anyways the doctor done a genitic test and told me she hasn't got Cmt. I'm not convinced what will I do now , felling lost?

6 Replies

  • hi, Sscully, I am wondering whether your daughter has been seen by a neurologist, what their opinion was, and whether the genetic blood test was organised by him/her.. ? The results usually take a number of months to come through.

    Have your husband and his mother been tested, and do they know which type of CMT they have ?

  • Hi Amanita no the doctor that sent Callie for the test was just a regular doctor and never done any other test so I went back to him saying I was not happy and he is now sending her onto a neurologist he didn't seem to have a clue. No they don't no what type they have. I really hope the neurologist can give me answers but I'm worried they will take it seriously because there test game back negative 👎

  • I agree with Amanita, you need a neurologist. They do take these things seriously, GPs are famous for being poorly informed on neurological things. My GP told me my eye problems were nothing to do with CMT, but the neuralgist said they are,, now I have problems with my vocal chords GP says its nothing to do with CMT but it says it could be on the american CMT website. I'm waiting for my neurology appt. Genetic testing as Amanita says takes ages cos its time consuming apparently & its ordered by a proper genetics dr, neurologists ask the genetics dept to do it cos its specialised so yours probably wasn't the real thing. The neurologist will take it more seriously I'm sure

  • Hi, Sscully,

    I'm glad your daughter is going to see a neurologist. I hope he/she will be helpful, listen, do all the relevant tests (which should hopefully include a genetic test and a nerve conductivity test) - and then get some help organised for her, depending on her needs (e.g. from a physiotherapist, occupational therapist and/or orthotist)

    Spabbygirl - vocal cord problems are a known but relatively uncommon result of having CMT.

  • Don't quite, my father,younger sister and nephew and my fathers mother have CMT, I notice my third child who is a male showing signs of the disease. Took him to be tested at 11 yrs old, the neurologist did a physical test no lab work and said my son did not have the disease. I took him to another neurologist that came highly recommend, he did blood work and found he did have the disease. My son is now 27 his legs and arms are very thin now. He trys hard to maintain his balance. This disease has caused him to go to illegal drugs to relieve his pain, he has been in and out of rehabs. I am not giving up on him we will get through it. I wish I would of been tested before bearing children, if I knew I was a carrier I would have chosen not to have children. Now I have to worry about my grandchildren, they too can have the disease or can be a carrier. I pray they find a cure for this painful disease. Please get another genetic testing done.

  • We just found out our 9 year old daughter has cmt1a and potocki luptski sydrome ptls for short hope you find out what is wrong with ur daughter x

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