fragile x syndrome

One of my closest friends was just diagnoses as a carrier. Anyone have any insight I can offer her??

Re: fragile x syndrome

When I was pregnant with my DS, my bloodwork came back that I was in the "grey" zone for fragile x.

From what I was told, there were not any documented cases of babies who had any issues due to mothers within the "grey zone". .... makes me wonder why they even have the grey zone.

I now have 2 healthy children who were unaffected by my "grey zone" fragile x status. After I was told about the results, I did a lot of Google reading and learned that it can cause learning disabilities. I'm sure there is much more to it, but that's all I know.

Re: fragile x syndrome

Re: fragile x syndrome

I am a carrier of 'pre mutation'. Which is basically, the middle step.

Does she know if she is having a boy or girl?

Why I am asking is our genetic counsellor told us that if we were having a girl (and we did), then she will carry the gene as well. her number can be the same as mine, higher or lower....there is no way to tell - and she'll pass it along, etc.. very few girls show 'symptoms' (for lack of a better word).

if she is having a boy - then the chances are increased that he will display the qualities of many different things. some say it's the leading cause of autism, some have little to no qualities....

I'd be happy to talk to her - if you want to FM me - i'll give you my email addy.

i still have all of my notes (from the genetic counsellor)....

Re: fragile x syndrome

She's not pregnant yet. Just found this out. Maybe I will give her your email address. That would be great of you!

Re: fragile x syndrome

Thanks everyone!

Re: fragile x syndrome

When I did genetic testing done, I came up as a carrier...but it was in a safe zone...it just means your a carrier of that gene. I can tell you that me and my baby are ok lol.

Re: fragile x syndrome

I know someone who is a carrier of Fragile X and her DD does not have it and her DS does. She is pregnant now, but I am not sure if she knows the sex or if the baby has fragile X.

Re: fragile x syndrome

I have no personal knowledge or experience with Fragile X.

A friend of mine was telling me yesterday that a friend of hers just found out that their baby has it. The mother is a carrier and they have to terminate the pregnancy. She's 23 weeks or so right now. It's heartbreaking.

Re: fragile x syndrome

I am also TTC and was told I am a carrier. I am going through all of this now too! It depends on how much of the mutation you have. She should see a genetics counselor who will tell her where the number falls. I am a step above the gray zone, by literally 5 points. I met with a genetics counselor who suggests PGD and IVF. Please FM me if you need anything or if she wants to "chat".


ETA: There is no safe zone unless you are below about a 32, which is the normal chemical repeat for this gene.

However, there is a GRAY zone, which does decrease your chances but it still is a possibility. Also, in the gray zone, your chance to pass on the gene, which could then mutate further an effect future generations does occur.

Message edited 2/25/2011 9:50:37 PM.

Re: fragile x syndrome

Here is a post from pregnancy...
Fragile X

I went through this a couple of months ago went to the genetic counselor and everything!

I have quite a long letter from the counselor describing Fragile x.

Basically for my "grey" zone number was 45. This is 1 repeat over what normal is. However no one with a number less than 56 has ever reported having a child with Fragile X syndrome.

Basically what we came to at the meeting was that because the # can further mutate through the generations should I have a girl, this is something to keep in mind and tell her when she is of child bearing age. If I have a boy, then its really not a big deal as the # of repeats only further mutates in females not males. So if a male has a 45 for example, they will always pass on a 45. Where as a female could have a 45 but pass on a 47 (lets just say - they dont know how they will further mutate through generations)

For our meeting my couselor basically went through our whole family tree, which shows really no genetic issues. And we already have a healthy son so she asked alot about him and his development. Then based on our number and family history she didnt recommend any further testing.

I know this was a long winded answer, but feel free to FM me if you have any other questions, the letter that our counselor from North Shore Genetics sent us is very indepth and informative!

Re: fragile x syndrome

Thanks so much..I will forward my friend the info!!

Re: fragile x syndrome

I'm a carrier, best info on the web is at fraxa.org, fragilex.org and ygyh.org

Fragile X like autism is a spectrum disorder. Girls can be as effected as their male counterparts but 1/3 may have no symptoms.

I also recommend the article by Time Article – Fragile X: Unraveling Autism's Secrets
http://www.time.com/time/magazine/article/0,9171,1818268,00.html

Big hugs to here, please let me know if she'd like to connect with me