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I am SO Scared...Fragile X Syndrome...

Okay Ladies...well it seems like something great happens (seeing the heartbeat) just to get knocked back down again.  It seems that I am the carrier of Fragile X Syndrome - the gene that causes mental retardation, autism, and a whole host of other things.  My boyfriend is getting tested this week - but from reading about it online it seems like even if he doesn't have it this gene can still be passed onto the baby.  The one website I was reading basically said any son I have has a 50% chance of displaying the characteristics of Fragile X - not just being a carrier.  I am FREAKING out...want to cry...does anyone know anything about Fragile X Syndrome?
5 Responses
13167 tn?1327197724
Sally,  do you know yet whether the baby you are carrying is a boy or a girl?  That's a good place to start in seeking answers.  If you're carrying a girl,  you have much less to be concerned about.  I have a friend whose husband is a carrier for fragile X,  and were relieved to find out she was carrying a girl.  She's very mildly affected,  but she certainly will do fine in life.

Best wishes,  and prayers for you.   I hope your OB office has a geneticist who can help answer your questions.
Avatar universal
I'm studying to be a speech pathologist in college and we briefly learned about Fragile X Syndrome.  All I know thus far is that it is an inherited abnormality of the X chromosome which causes disabilities that range from varying degrees of learning problems to mental retardation.  Some common features that are associated with the syndrome are: sever language delays, behavior problems, autistic-like behaviors...such as poor eye contanct...or autism, lage or prominent ears, hyperactivity, poor sensory skills and delayed motor development.  Sorry that's a rather textbook definition, but that's all I know, and the syndrome is fairly new so there is still more information being put out there.  
Also http://www.fragilex.org/html/home.shtml may be a helpful site to visit.  
Best of luck to you.
Avatar universal
I also am a carrier of Fragile X, 69 repeats.  I did not find out I was a carrier, until my son was 21 months old and diagnosed with Fragile X.  We have one other child, a daughter (4) who is unaffected.  Our son has experienced global delays, which is how we became suspious that there may be a problem.  He did not sit up until 11 months and did not walk until 19 months.  He currently receives speeach therapy, occupational therapy and physical therapy.  As of today he is non-verbal but we are very hopeful that this his speech will come around.  We are teaching him sign language, which he seems to enjoy.  My son is the happiest child in the world and I love him to pieces.  We did not learn I was a carrier until after he was diagnosed, no one in my family had ever been diagnosed.  For awhile I felt guilty for passing it to my son, but I know there was nothing I could have done to prevent it and I had no idea I was a carrier.  I would really not change anything about my son, he is such a lover and I truly believe God gave him to me for a reason.  There are alot of websites out there with information on Fragile X, I would recommend going to the National Fragile X website, I have found them to be the most helpful.  There are also some Yahoo groups that I belong which I find very helpful, lets you know that you are not the only one feeling the way you feel or going through what you are going through.  Keep your chin up, my son is the best gift I have ever been given.  I used to dwell on what he may or may not be able to do, but then I realize that these children are pure love, everyone that meets my son falls in love with him.
Avatar universal
I know this is late but just in case someone stumbles across this, i am a carrier of fragile x, with 87 CGG repeats. According to my geneticist, if you carry the affected x you have a fifty fifty chance of passing on that gene. Regardless of gender bc you (female) only give the x chromosome. If that particular x is the effected one, prognosis depends on what daddy contributes, x or y as well as how many mutations are on that x. Bc you may have 87 but can pass on any number of repeats. Thus it being fragile..... If daddy passes on a y chromosome to an effected x chromosome, resulting in a boy theres he WILL be effected by it (severity cant be predicted without evaluation and blood test of child). If daddy passes an x, to your x, results in a girl chances are she may not be effected by it, the other x can "balance" the other out but she would be a carrier. However she could be effected by it, especially if the fragile x she recieved mutated. my mother is a carrier. I am female, and have 3 younger sisters. Out of the 4 girls, 1 of my sisters has developmental delays, but relatively mild. One doesnt have that gene at all, i am a carrier and the youngest isnt effected but due to her young age we dont know if she is a carrier, hasnt been tested..... If you are the carrier, it depends on which x you passed  to child. I have a son that got the normal x, with only 30 CGG repeats. So he is perfectly fine.
Avatar universal
also, let it be said that number of mutations on the fragile x doesnt neccesarily correlate with how severely the child would be effected by it, as far as it is known right now. Fragile X is a relatively new discovery, first truly acknowledged in 1992. In terms of genetic research, this is a short period of time because genetics are very complicated to unravel. So there is hope, because research is constantly being done, things that could help are still being discovered.

And, just because a child isnt "normal", doesnt mean you love them any less. as scared, worried as i was about my son being effected before he was born, the moment i saw him, i knew it didnt matter. He was mine and perfect the way he was, regardless of his fragile x status (didnt find out until he was a couple of months old)
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