"Fragile X" Carrier

So I get a call from my Dr saying that according to my genetic bloodwork, I am a carrier of Fragile X. I have an appt with her tomorrow evening and she said we will talk more about it. She wants me and DH to see a genetic counselor? She said it won't affect my baby but future generations, I shouldnt worry too much. I can't help but be worried now, espeically since I goggled it!

Is anyone here a carrier? I'm freaking out here!

Thanks!

Re: "Fragile X" Carrier

I had all my genetic blood work done before we even got pregnant. And when my blood work came back they explained I was in the grey zone for Fragile X. So they had DH go in and get blood work done as well. Luckily he came back clear - he wasn't a Fragile X carrier.
My doctor had us schedule an appointment with the genetic couselor and she went over everything. She explained that there was no risk at all to our children but down the line it may be a problem for future generations. She explained that if I passsed my "affected" X on to my children and then it continued to mutate then they would be carriers. But if they married a non-carrier than it would not be a problem. It is only a problem when there are two carriers and then they would have to learn their risk about passing on both "affected" X's to thier unborn child (I believe it was a 25% chance but dont quote me on that).

YOu really have nothing to worry about it and I would not stress about it. I know when I initially got all the information I was so upset. But honestly there is nothing for you and your DH to worry about with your children. It will just have to be something that future generations will have to be tested and screened for. I plan on informing my children about this information when they are old enough and explain to them the benefit it would be to be tested for these genetic diseases.

If you have any other questions please feel free to ask me.

good luck and try not to stress about it at all!!!!

Meeting with the genetic couselor ---initially scary --but really helped us understand alot of the information and put our minds at rest so I highly recommend that you just go and meet with them. They will also do a whole family history/tree for you and DH and go over all other genetic information.

Re: "Fragile X" Carrier

Thank you so much for your response!
Maybe Dh should take a test too. Ughh I can't wait for this first trimester to be over!!

Re: "Fragile X" Carrier

If you don't mind me asking and I am not trying to scare you at all but how do they know that your children are not affected if your DH did not take a blood test??

M DH HAD to take a blood test in order to determine if it would or would not affect our children. That is why when he came back negative as a carrier we knew it would not affect our children. But if he came back positive then we would have gone over percentages of having a baby with Fragile X with the genetic counselor.

What did your doctor exactly say to you?

Message edited 2/16/2010 5:59:23 PM.

Re: "Fragile X" Carrier

Good question, she basically said that I am a carrier of fragile x, which may effct our future generations. She did not mention DH taking a test. I guess when I go for my appt. tomorrow we will talk more about it.

Re: "Fragile X" Carrier

I would really ask her about DH being tested. When I came back from my blood work being in the grey zone for Fragile X they said DH had to be tested to make sure he wasn't a carrier so that it would not affect our children. Good Luck!