What is Fragile X Syndrome
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 F...
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Hi
I recently found out that I carry the gene for Fragile X. It wasn't too surprising considering I have two cousins that have the disorder. But to hear it just made it real. Here is this thing have I have known was possible my whole life and now it's real. My husband and I are ready to start a family and we went to see a genetic consular. We live in the Boston area and went to one of the best hospitals in the city. The people we met with were wonderful and gave us some great advice. We basically have two choices. We can go through in vitro fertilization, and they can basically take my eggs, my husbands sperm and find the ones that are healthy. This of course is not covered by insurance and costs over 10,000. Our other option which I guess most people opt for is to get pregnant and then they do a test where they take a sample of the placenta and determine which strand of the gene they have. They would also determine the sex of the child as well. If we are carrying a boy or a girl with a short strand then we are home free no problem. But if we are carrying a boy or a girl with the long strand then their is most likely an issue. At which case we would have the option to terminate the pregnancy. It was really emotional for me to hear that considering I carry the long strand of the gene that if I have a boy that carries that same strand he would most likely be profoundly restarted. As for a girl it could go either way. I know that with the advice and the choices they gave us that it is possible to have a healthy baby. But I just wish that I could just get pregnant and have a child the same way everyone else can without all of the worry. If anyone else knows that I am going through or has been through similar situations I would love to hear from you. Thanks for reading! Posted on 09/15/07, 04:09 pm |
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I completely know what you are facing. I am the carrier of two separate x linked diseases (Hunter's syndrome and fragile x). My husband and I decided to conceive naturally and have CVS at 11 weeks. The wait is terrible but I know that the wait is also hard with the ups and downs of IVF and preimplantation genetics.
I felt like the joy of pregnancy was taken away from me and replaced with fear, axity and guilt. We have one healthy "typical" daughter and a son who has the premutation for fragile x. Our son is experiencing a lot of emotional and behavioral diffuculties, which is common in boys with the fragile x premutation. I think you need to follow your heart. I hope this helps. On the bright side, I feel like I appreciate my children more than I would have had it been smoothe sailing. Good luck! Let me know if you'd ever like to talk privately. I am also from the Boston area originally and am moving back there at the end of the year. 
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i found out i carried the gene after i had my 3rd child! thank god it passed my first 2 it only got the last one then i found out i was the carrier! im in therapy and im told i blame myself for Conner's (my 5 yr old) handicap! i guess deep down i do but i cant help the way i feel!im new to the fragile x world and its so hard cause im on my own with no help/support from anybody!
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I just joined this group but can definantly relate to you on many levels.. you can read my journal that explains it all, but ill give you breif basically there where no signs of fragile X gene being in the family as all my uncles cousins brother sisters and aunts where all fine then my son came along and was diagnosed with Fragile X and thats when everything undid i was told iam 100 percent full mutation. when i got pregnant with my daughter we did the testing and man the stress that went along with it but we are glad we did it.
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i am a carrier of the fragile x gene my son has it to. i know what all of you are going through.i have my good days and bad days. i didnt know i had it until a few years ago when i got tested and my son also has autism. i had to terminate a pregancy in 07 because i knew i couldnt have a child and go to full term without knowing it would have been worse for me and the unborn child. my cousin is a carrier and her two boys have fragile x syndrome its on my moms side of the family. so i know what you are going through i hope we can all help each other through all the same situations here.
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Hi there,
I totally know what your going through. Fragile X syndrome is in my family as well. I have a 4 year old with it as well as Autism. He's non-verbal at this time. Its getting difficult for him each day as things he's trying to communicate he has melt-downs. I'm glad to see some responses on here about Fragile X syndrome. I need to find other people affected myself. Just too feel like I am not alone out here in this big world. take care, Michelle
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I read your story and you sound the way I feel. I too carry the gene, and my nephew has fragile x as well. My husband knows this and I dont know if he accepts it or is just too afraid to have children with someone who will probably have a "mentally challenged" child. It kills me to think that, but I know thats the reality. I just have a question for you, did your husband accept it? How did you talk about it? I could use all the input I could get.
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