Guest guest Posted May 9, 2000 Report Share Posted May 9, 2000 Hello again. Not sure if anyone remembers but I first wrote a few weeks ago about my dilemma in starting a family bc of a family history of CMT and I wondered about definitive diagnosis. Today my husband and I went to the Genetics Clinic at the Royal Childrens Hospital in Melbourne. We met with a doctor who was so different from the one we met a couple of years ago. He did explain the genetics very well and was very compassionate in understanding our problems. I took a copy of my sisters FISH result which we found was negative for CMT1. She says she has CMT2 but apparently this is not so readily diagnosed. It was our luck today to find out that the leader in Australian research, Garth Nicholson, is in Melbourne on the 14th of May for an afternoon session for CMTers, their families and also doctors. So we are all going to that. Being autosomal dominant means that I have a 50% chance of inheriting the disease, but this doctor said today that the percentage is most likely decreasing bc of my not exhibiting any symptoms by this age in my life (36). We left feeling hopeful and have also given my sister an opportunity to find out more too bc it has been a couple of years since she went to one of these things and there definitely has been more information made available. Does anyone have CMT2 and if so, is this distinguishable symptomatically from CMT1 which I understand is more common and testable by DNA. bye from Down Under Moggy (aka Helen Burns) Quote Link to comment Share on other sites More sharing options...
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