Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi everyone, Ruth warren here. Can I add one more (and slightly different) view of DNA testing? For me, CMT Type II is the type I have been diagnosed with through EMG testing. I had this testing done as a child and again as an adult when I had to start taking my kids to be treated for CMT. We are currently being treated through the MDA clinic at Duke Hospital. Research is being done there by Dr. Jeffery Vance to try and isloate the gene(s) for CMT II subtypes. My neurologist there asked if my family would be willing to have blood drawn to be analyzed in this effort. I agreed, and two of my 3 young daughters also agreed. My oldest did not and I respected her wishes. I let my kids decide for themself if they wanted to be " stuck " with a needle or not. They also took my family history and, as a result, linked us into what is now identified as the largest documented CMT family on record. Our family tree spans over 13 pages. The researchers also flew to Indiana and several parts of Pennsylvania to take blood sample from my mother (who does NOT have CMT but was used as a control for our branch of the family) and family members who are and are not diagnosed. Our bloodwork did not provide the elusive " crossover " (don't know if I have the right terminology here - I do not pretend to understand DNA testing...) they were looking for to positively identify the gene. BUT, at least I feel we were making a contribution to solving the puzzle that is CMT. I believe (personal opinion here folks) that gene replacement therapy may be the key to a cure in the future. If so, then DNA testing and research is beneficial for those who want to have testing done or want to be a part of the research effort. This is a very personal decision. Ruth ______________________________________________________ Get Your Private, Free Email at http://www.hotmail.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi everyone, Ruth Warren said--< > Ruth, that's great. And you are lucky to be with Dr. Vance. He is always mentioned in the CMTA newsletter. < > This falls in line with what we were just talking about--testing with neg. and/or positive results. I have a cousin who has gone back through the family to great-grandparents, with a history of what he now feels is CMT. Even though Dr. Charcot and others diagnosed this and it was given a name, at the turn of the century!! Ruth also said--<< I believe (personal opinion here folks) that gene replacement therapy may be the key to a cure in the future.>> Yes Ruth, I do too. Perhaps even in the next generation, they will be able to delete the mutant gene in the fetus, before delivery. Wouldn't that be wonderful? I volunteered, by letter, a few years ago, when they were looking for type 1A . Would you believe that so many volunteered immediately, that they had to turn me, and others, away? Theresa ________________________________________________________________ YOU'RE PAYING TOO MUCH FOR THE INTERNET! Juno now offers FREE Internet Access! Try it today - there's no risk! For your FREE software, visit: http://dl.www.juno.com/get/tagj. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2000 Report Share Posted January 22, 2000 Hi everyone, Ruth Warren said--< > Ruth, that's great. And you are lucky to be with Dr. Vance. He is always mentioned in the CMTA newsletter. < > This falls in line with what we were just talking about--testing with neg. and/or positive results. I have a cousin who has gone back through the family to great-grandparents, with a history of what he now feels is CMT. Even though Dr. Charcot and others diagnosed this and it was given a name, at the turn of the century!! Ruth also said--<< I believe (personal opinion here folks) that gene replacement therapy may be the key to a cure in the future.>> Yes Ruth, I do too. Perhaps even in the next generation, they will be able to delete the mutant gene in the fetus, before delivery. Wouldn't that be wonderful? I volunteered, by letter, a few years ago, when they were looking for type 1A . Would you believe that so many volunteered immediately, that they had to turn me, and others, away? Theresa ________________________________________________________________ YOU'RE PAYING TOO MUCH FOR THE INTERNET! Juno now offers FREE Internet Access! Try it today - there's no risk! For your FREE software, visit: http://dl.www.juno.com/get/tagj. Quote Link to comment Share on other sites More sharing options...
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