When to test for fragile X?

iVillage Member
Registered: 06-25-2003
When to test for fragile X?
3
Tue, 10-21-2003 - 1:10pm
After a throw-away comment one of our peds made recently; Fragile-X testing has been on my mind. I really don't think Peter is MR, although we should have the results of Friday's eval in a few weeks (it went very well, BTW), but reading through the site, one doesn't have to be; and a lot of Peter's issues seemed to fit: even the physicial charactistics -not the facial features, but the finger hyperextension, flat feet and a family history of Mitral Valve Prolapse. I know one shouldn't make Internet diagnoses, and I amn't, (and DH says I am being silly, that many kids have these issues and have perfectly sturdy Xs, which is true), but it has been on my mind.

However here is the thing which is *really* bothering me:

My family. I don't really mind if Fragile-X is the root cause of our 'family curse'. I was the first to admit that there has ever been a problem, and have been rather unpopular for that! But OMG, my family will *freak* if it's genetic! Not only that; but because I could potentially be the one raising the alarm, I will be perceived as having caused the issue. The messenger will be hung, drawn and quartered! I know I am jumping way ahead of myself here, because we haven't even *tested* him yet, but I am tying myself up in knots about it!

So here is my question: At what point should one test for Fragile-X, and what are the indicators?

TIA,

-Paula (who is just piling issues on herself these days *sigh*)



-Paula

visit my blog at www.onesickmother.com
iVillage Member
Registered: 03-26-2003
Tue, 10-21-2003 - 2:01pm
Hi Paula,

My son has been diagnosed with Asperger's Syndrome. My son was tested to rule out Fragile X. The tests were negative. It is going to make you feel better than I think you should have the test done. He had just turned 4 yrs old. I know exactly where you are coming from on the

family issue. My inlaws are having a hard time coming to grips with the fact that we believe that he has Asperger's. They think I am just looking for things to be wrong and

that he will just grow out of it. WRONG! My husband has alot of Asperger's symptoms and we are now questioning if he has Asperger's. My in-laws hate the fact that it can be from their side of the family. I just tell them that it doesn't matter where it originated. The important thing is to be able to get the help we need and to deal with it. It is nobody's fault. Just keep doing what you believe to be right! You're doing a great job and nobody knows your son and your families needs like you do!! Good Luck!

HTH (((((HUGS))))

Susan

There are 4 things you cannot recover.
1. The Stone.......after the throw.
2. The Word........after it's said.
3. The Occasion......after it's loss.
4. The Time.........after it's gone.
iVillage Member
Registered: 03-28-2003
Tue, 10-21-2003 - 5:38pm
Paula

I'm with Susan on this one. They will map his chromosomes, so, any time is good. Also, it might be a good idea to find out for Siobhan. I'm not talking about if she should have kids or not, but, just so she can know this is a possibility and can be prepaired. Just like I highly suspect this CAPD thing is genetic, and, I will want Liam and Linnane to know a lot about it. Also, if this is an issue for Peter, then it will be good for you to know as his mother. Besides, I hate unanswered questions!

Your friend,

Sio

iVillage Member
Registered: 07-11-2003
Tue, 10-21-2003 - 5:56pm

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You should get the test done when the question first comes up. Jade was tested for FX when she was 2 days old, she has a slightly enlongated X, but not clinically so, so they then tested me and her biological father. Neighther of of us had enlongated X's.