Quote:
Originally Posted by Kitt
How was your son diagnosed? Was there DNA blood testing? If it is CMT then he would have the same type as you even though symptoms vary greatly even within the same family.
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We didn't pursue the rest of the Athena panel since neither of my neurologists thought there was much point, as regardless of the variant there is no treatment. My son presented with foot slapping and very weak ankles from childhood, whereas I was more clumsy and uncoordinated, unable to run or jump. Even with the same type, the symptoms and onset can vary, as you said. His feet and arches, at 28, are as high and contracted as mine at 51. He does not have pain yet, but I didn't either when I was younger, and later I blamed it on varicose veins, arthritis, and phlebitis until finally getting a diagnosis at 47. I did not mean to imply that he had a different type than I, of course, only that if Abby's does turn out to be hereditary talking to the children about it is more complicated.
My older daughter (29) does not appear to have it, and neither does my younger (26) year old son, but they are very sensitive about discussing it and do not want to consider the possibility that they may be affected. It is a very touchy issue for them. My daughter has a baby and wants a large family and does not want to think about passing anything like this on to them.
My family history was incomplete, but I do have a half sister with a severe case, childhood onset.
My son's case was confirmed in China, where he lives, through examination and family history, not blood testing, so we do not have the exact variant, only that it is axonal.