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CMT Genetic test results in....

Well today was the day we went for the 2nd round of genetic testing results.

A little background. About 6 years ago I had genetic testing done because my father was dx with CMT with the type unknown. At that time they tested me for 1A and X. The results were negative.

Due to my major medical issues over the last 3 years they tested for 1b and 1e this time around. Both came back negative BUT what I didn't know was they retested for 1A at a different lab this time and it came back POSITIVE.

Now, because I have had 1 negative result and 1 positive result from 2 different labs they are retesting again to be absolutely SURE. This time they took blood from myself, my daughter and my father. These results will be back in 6 weeks.

Here is the twist to the whole thing. Again, the doctor said that MOST of my symptoms are not related to CMT. The doctor asked if my primary had given me the referral to the Rheumatologist as she suggested. I advised her that he didnt because he said that what was going on was neurological. She didnt seem too happy with that so she says I NEED to see a Rheumatologist and she is going to do the referral herself because I definately have something else going on that are causing my relapses.

My daugher goes to neuromuscular clinic on the 16th of September to get sorted out and the doctor is sending off a referral to the adult neuromuscular clinic for me as well as the referral to a Rheumy.

Finally I feel like we are going forward!

Keep us posted as to how you come out. You certainly can have CMT and still have other diseases going on. And the symptoms from another disease can be your primary symptoms and CMT not much at all but you still can have it.

Keep us posted. Thank you.

It sounds as if your doctors are on the ball with this one?
Just a 'feeling'. They are curious [and a good and curious doc is always an advocate for YOU!] and not bogged down by the 'systems'.
I have no idea how this will all come out? But I DO have a good feeling that you will get the help you need when you need it and not 'too late'!

Keep a solid faith that your initial docs and subsequent ones all feel the same .... that something's going on and we've got to get to the 'root' of it.

I'd be doing a jig in celebration, but, rite now I can't jig, and if I could? I'd likely fall over? You get the gist of this all I believe.

Keep faith! LEARN! Ask Questions! Have hope! Let us all know how it all comes out? - j