Susie Bee,
I found out some information about the recessive CMT. You CAN have a mild form of the disease with only ONE allele IF you have an abnormal EMG. So if you are having symptoms, you would need to see a neurologist and him/her do an EMG.
My EMG was normal, of course. But my symptoms are not mild, either.
UPDATE: I saw the neurologist yesterday. He's completely baffled and sending me on to Madison for more extensive genetic testing. Meanwhile, my good friend that happens to be a Ph.D. geneticist is coming to have lunch with me and go over some new information she has found and shoot some ideas around. I asked my neurologist if he wanted her info and ideas and he gave an overwhelmingly positive response! Since my friend teaches AND does research, she HAS to keep up on all the latest in genetic research. She is a highly intelligent and wonderful person, especially to take time out to come to my town and help me. She was my mentor when I did my undergraduate research, but that was 11 years ago! Many have come and gone and we have seemed to remain in touch. She's a very special lady!
Meanwhile, enough about my friend. My neurologist and my geneticist are going to see if I qualify for the rare genetic disorders study being done by the NIH. At first they were against the idea. Now THEY are the ones bringing it up. If we can't figure this out for me, then maybe for my kids and grandkids (a nurse told me that). They know now that it's a race against the clock. They see it clearly as new symptoms crop up faster than I can report them.
I found out some information about the recessive CMT. You CAN have a mild form of the disease with only ONE allele IF you have an abnormal EMG. So if you are having symptoms, you would need to see a neurologist and him/her do an EMG.
My EMG was normal, of course. But my symptoms are not mild, either.
UPDATE: I saw the neurologist yesterday. He's completely baffled and sending me on to Madison for more extensive genetic testing. Meanwhile, my good friend that happens to be a Ph.D. geneticist is coming to have lunch with me and go over some new information she has found and shoot some ideas around. I asked my neurologist if he wanted her info and ideas and he gave an overwhelmingly positive response! Since my friend teaches AND does research, she HAS to keep up on all the latest in genetic research. She is a highly intelligent and wonderful person, especially to take time out to come to my town and help me. She was my mentor when I did my undergraduate research, but that was 11 years ago! Many have come and gone and we have seemed to remain in touch. She's a very special lady!
Meanwhile, enough about my friend. My neurologist and my geneticist are going to see if I qualify for the rare genetic disorders study being done by the NIH. At first they were against the idea. Now THEY are the ones bringing it up. If we can't figure this out for me, then maybe for my kids and grandkids (a nurse told me that). They know now that it's a race against the clock. They see it clearly as new symptoms crop up faster than I can report them.
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