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Back from seeing the CMT Specialist

Hi everyone,

Just got back from the CMT specialist and It was a wonderfully productive appointment!

They found my test results from 2003!!!! They had tested for the PMP duplication (1a) and they tested for x in 2003. Both have come back negative! They took blood again today and will be testing for the PMP 22 sequencing (1E) and for MPZ (1B). These are the last 2 tests we can do for now as our government health insurance must approve any further testing as it will have to go the the US. This new testing will take 6 months to get the results (maybe 3 months if I am lucky).

The specialist is setting up an appointment with a child neurologist for my daughter. That is great news!!

Then we went through all my sx and what is CMT related and what is not. Very attentive doctor!!! I have a lot of sx that do not fall under the CMT umbrella. She then examined me and found that my hands are showing some slight muscle loss and some reduction in strength but not much. Just enough that opening cans is difficult. Which it is. My right foot has lost some muscle strength and my arche is VERY high according to her. I always thought that was normal. LOL. No reflex at the ankle. Toes are not moving quite as they are supposed to.

Oh and I had one very bad case of Renauld's going on today at the appointment! My feet were blue and it was travelling up my legs.

After she went over everything she said that I need to get a referral to a rheumy from my GP because there is DEFINATELY something else going on.

That's the appointment in a nutshell. I have to run to work now but will check in later.

Thanks everyone!

What about the throat thing?

Sounds good. I thought in some other posts you said that your Dad has CMT. Did he also go and get tested or? Keep us posted.

Hi MrsD the throat thing can *possibly* be related to CMT according to the specialist.

Hi Kitt yes my Dad did go for some reason they are only testing my blood. The doctor said they may go back and test my Dad but I think she said only if they find a previously unseen mutation. Does that make sense? Oh..I'm not sure exactly what she said there. There was soo much information to absorbe.

The doctor did mention possibly Fibro for the balance of my sx but that I should have a complete work up from a Rheumy. My GP's ofc is closed today so I will call tomorrow to set up an appointment to get that ball rolling.

Hi lynxgal. That's interesting that they may test your father later. It seems that that might bring about a whole lot of new information as well.

That is interesting about your throat thing. I have never been able to find anything about that and CMT but that does not mean that it couldn't be related to it. It will be interesting to see how this all turns out. It is good that you are going to see a Rheumatologist as well. Let us know what happens. Thank you.