Member
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Join Date: Jul 2011
Location: Mid-Atlantic coast
Posts: 721
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Member
Join Date: Jul 2011
Location: Mid-Atlantic coast
Posts: 721
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My diagnosis was made based on examination, abnormal EMG/NCS, skin biopsy showing no small nerve fibers, and markers like childhood clumsiness, poor coordination, high arches, high stepping gait, absent reflexes and complete loss of sensation to the knees. Family history is prominent but shadowy, a dead end due to illegitimacy but lots of indications of severe CMT. Second opinion at Johns Hopkins, neuro offered more testing including full Athena panel but said it was unlikely to make any difference since there is no treatment for any type of CMT. I figured why bother? I received a very sincere "good-bye and good luck" from the doctor there.
You are not your sister, but I can see how an experience like that in your family would worry you. As long as your close friends and family see you functioning well you are unlikely to develop a problem. Under treated pain is dangerous too. And yes you are right that addictive personality types play a big part in this. It is why doctors are very reluctant to prescribe pain medicine even for recovered alcoholics.
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