Fragile X Syndrome Support Group
Fragile X Syndrome is the most common inherited cause of mental retardation, and is associated with autism. The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that site is found in 1 out of about every 4000 males and 1 out of about every 6000 females.
deleted_user
I'm a Fragile X carrier with 75 repeats. I'm doing IVF with Preimplantation Genetic Diagnosis. Has anyone else gone this route? What was your experience?
deleted_user
Hi magnolia123 I just saw your most recent post!! (sorry for some reason I wasn't seeing it before) Congrats-- that is SOOO wonderful :-). That is really heartwarming to hear and twins too. Many hugs and well wishes to you.
deleted_user
Hello everyone! I am a Fragile X carrier in premutation (92 repeats). I have a 7 year old daughter that has separate issues, but not Fragile X. I have had two unsuccessful pregnancies where both babies tested positive for full mutation fragile x (Boy's numbers were astronomical, and the girl had two normal repeats (29,30) and also had an extra chromosome between 270~370 and also had Triple X Syndrome which is aka 47/XXX). The combination of Fragile X and Triple X syndrome (47/XXX) has never been seen before and the genetic doctors and counselors were baffled by the results. They contacted both foundations and spoke with medical specialists from both and they said there was no way that the baby could escape having symptoms of both. My husband and I were thinking about IVF, but I have heard that the carriers with higher Fragile X number have a more difficult time with viable embryos. I was also wondering (if someone wouldn't mind answering this) how much IVF costs and how it works with the cost. I was thinking about contacting the insurance company to see if any of it was covered since it is a genetic abnormality that I was both with to see if that makes a difference with the coverage. Thanks in advance for your feedback!! :)
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