Has my daughter Cmt

[Sscully]

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?

[Amanita]

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 ?

[Sscully in reply to Amanita]

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 👎

[spabbygirl in reply to Sscully]

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

[Amanita]

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.

[Johnson27]

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.

[Megan23]

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

[Sscully]

I'd just like to let you all know yesterday I got the answer I was looking for!!thanks for your supportive words I didn't give up I fought to see a different doctor and he done a emg test yesterday on my daughter he picked up straight away that my daughter has cmt same as her father. Now we just hav to find out witch type as my daughter is also parcely deaf. Never give up u no your own child. Now my daughter can finally get the help and support she needs. Stephanie

[Sscully]

Also genetic testing can be wrong as Iv found out alwoget second option if genetic testing comes back negative

[Amanita]

You must be relieved to have an answer even though it means your daughter will have to face the challenges of CMT. At least it has a name now, and you can pursue help and support for her.

Genetic tests are done from a blood sample that is sent to specialist laboratory. It can take several months to get the result (9 in my case) - maybe they have big backlog, or maybe they just wait till they have a batch to examine. They will be looking for faults with specific genes; not all types of CMT have been pinned down yet, and apparently rare types are still being discovered, so would not be detectable from examining the known genes. Genetic tests are extremely expensive for the NHS. If your daughter did have one then it would almost certainly identify your husband's and mother-in-law's type as well.

As there are no cures yet, it is really more important to concentrate on managing the disease, keeping your daughter as active and mobile as possible, and to achieve the best possible quality of life for her.

[Sscully in reply to Amanita]

The doctor that did the genetic testing only took 2 weeks witch make no sense!! I was told he did the wrong test. My new doctor took loads of blood samples and sent them of to Bristol I was told it could take up to 6 months until results are back. My princess is so strong and il make sure I do everything I can to make sure my princess does hav the best quality of life.

[LoolooLacey2]

Hi Choral, are you in the UK if you don't mind me asking? I am waiting on my appointments still, however the ball is rolling I now have one for the Clinical Genetics OP Clinic in Feb coming. I have also filled out a Questionnaire for the Pain Clinic Service. Both these will be at a Teaching Hospital in a city not far from me. Still waiting on the Neurology appointment, but should not be long now, luckily this will be in my home Town. I have a Myopathy as well as suspected CMT so a double whammy. Like you it has taken years to get to this point, but you need to be insistent on what you need. My original Consultant retired, he was also my Boss and when I left work in 2006 due to health I had no one to go to. Finally, this year a new Consultant for Adult Myopathies saw me and now I am being referred. I had had no bloods for 5 years, have just had general ones this week, but will likely get specialist ones at these Clinics. There is a CMT One Stop Shop in Glasgow apparently, so if I do no get what I need locally I will ask to be referred there. There should be somewhere you can go. By the way I am 67 now and it was by sheer chance a Nurse mentioned my feet and legs or I would not have known about CMT. Also Vitamin B is very important, my son and my niece have Vit B 12 Deficiency and have neuropathy because of this. However, I have never had test for Vit B 12 so will ask for that to. You have to be your own Mentor and be strong to get anywhere with the Medics most of the time. If your very lucky you may get a good one, but this should NOT be the case, if your referred for a specific reason it should be investigated thoroughly. Wishing you good luck in your quest. X