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Can someone with fragile x " recover " ? From what I've read it seems

unlikely. We are taking my son to get this test. I'm sure most of

you have had this done and maybe even didn't think much of it. I

didn't until I decided to look at more about it.

Now I feel eerily scared and just like a big rock is on my chest. My

son has so many of the symptoms it is alarming to me. I have alway

noticed for instance that his ears seemed on the big side, compared

to the other 3 kids. His feet are flat as can be. He has an enormous

forehead. His testicles are also enormous, which we thought was odd,

but the ped acted like it was nothing. Now, these physical things

combined with the behavioral have me scared.

Does anyone else's child have this or do you know anymore about

this? Do any of these kids have the yeast issues, metal issues, etc.

we have seen?

Also my son was born normal, or so we thought. Could this be, if he

had regressive autism?

Depressed in Virginia,

Laurie

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  • 4 years later...
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I have had my daughter have a genetic test when I suspected she

had a growth disorder and it turned out she did. It also

explained the AS.

Do your children have any other physical issues? Abnormalities in the

face, ears, heart, laxity in joints?

Besides fragile X their are other single gene issues (deletion of chromosome

22q) and many many multiple gene issues that run in

families.

A genetist at a major university would be the best bet

to look at the family history and symptoms of the children

and decide what type of genetic tests to perform on

one of them.

I have found the most helpful test though to be the

neuropyschological evaluation. My daughter has above

average reasoning skills yet she has deficits in other

areas that explains her school issues.

For us the genetic test tied together all the health

issues she had and put us in touch with a support

group for the physical issues.

Good luck in whatever you decide,

Pam

>

> Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

>

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When you say abnormalities in the face what exactly do you mean? My son with

Aspergars has a droop on the side of his mouth. Ginger

> >

> > Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

> >

>

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I just read about Fragile X. Definately sounds like something I should check

into...

> > >

> > > Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

> > >

> >

>

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Well my daughter has sensory integration disorder, she is very short, has

ridiculously tiny ears I mean smaller than a newborn when she is 4, she is also

double jointed. My son has the typical large ears associated with fragile x and

has been diagnosed with AS, he is 6. My youngest son is 15 months and being

evaluated for autism. He has a severe speech delay, but is quite social. No

real physical things that have been detected yet besides delayed gross motor

skills and feet that point out. They all three have varying degrees of sensory

issues and some autism red flags but nothing real clear cut and obvious.

> >

> > Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

> >

>

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If your daughter is below the 5% growth curve for her age I would

look at the Magic Foundation website on growth issues and

see for yourself what might make sense to you. If she is at the 5% curve for

height or better than she is just petite and there is no

reason to follow up on growth issues. My daughter was on the 3%

curve until she turned 9 and then progressively fell farther

behind. So by age 9 it was clear.

Laxity in joints is present in many issues but by itself is

not a disease in itself unless it is so severe that she has had dislocated

joints.

The magic foundation may be helpful to you. On their website

there are pictures of kids with various issues.

Pam

> > >

> > > Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

> > >

> >

>

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  • 2 weeks later...

Here is a page that talks about fragile x and what it looks like. http://www.fpg.unc.edu/~fx/pages/overvu.htm

You have to consider your options so it's hard to say to do or not to do something like that. We never did as we didn't feel our kids would fit the profile. But if you are worried, I guess you can have the test or get a second opinion.

Roxanna

Whenever I feel blue, I start breathing again.

( ) Fragile X

Has anyone on here had there AS child tested for fragile X syndrome? My doctor suggested it since all three of my children have sensory problems and some degree of autistic symptoms. However I thought usually people with Fragile X usually tested low on IQ tests and all three of my kids are very um booksmart. Only the eldest has had an intelligence test, though and was high I think. Just wondering if this is really something we should pursue or not. I guess it wouldn't hurt to rule it out.

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We saw a truly wonderful neurologist with Childrens Hospital in Milwaukee after several others that were not so wonderful and she had us do a whole range of testing, which for a worrier like me was a godsend- to have a more defined idea of what we were working with and what we needed to do to help my son rise to his full potential. As it turned out he fit criteria but did not have Fragile x but I was glad we did the testing anyways. Some of the genetic testing is extremely expensive, so she had us get all the cpt codes and verify with the insurance against the diagnostic codes to make sure it would be covered. I am glad we did that part, but it was a relief to know if there was some specific cause to the issues we were having and if there was anything we needed to know to make life easier for him. I would reccommend it, if you are a worrier - you will feel

better to not have the what ifs looming.

From: Roxanna <MadIdeas@...>Subject: Re: ( ) Fragile X Date: Tuesday, August 10, 2010, 12:27 PM

Here is a page that talks about fragile x and what it looks like. http://www.fpg. unc.edu/~ fx/pages/ overvu.htm You have to consider your options so it's hard to say to do or not to do something like that. We never did as we didn't feel our kids would fit the profile. But if you are worried, I guess you can have the test or get a second opinion.

RoxannaWhenever I feel blue, I start breathing again.

( ) Fragile X

Has anyone on here had there AS child tested for fragile X syndrome? My doctor suggested it since all three of my children have sensory problems and some degree of autistic symptoms. However I thought usually people with Fragile X usually tested low on IQ tests and all three of my kids are very um booksmart. Only the eldest has had an intelligence test, though and was high I think. Just wondering if this is really something we should pursue or not. I guess it wouldn't hurt to rule it out.

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Any idea how I might get adult son tested for fragile X? He meets several of the

criteria, including the tremors...but I can't find any way or project that tests

adults. Especially ones with no health insurance. I had never even heard of it

until after he was grown.

Sue in TN

>

> Here is a page that talks about fragile x and what it looks like.

http://www.fpg.unc.edu/~fx/pages/overvu.htm

>

> You have to consider your options so it's hard to say to do or not to do

something like that. We never did as we didn't feel our kids would fit the

profile. But if you are worried, I guess you can have the test or get a second

opinion.

>

>

>

>

> Roxanna

> Whenever I feel blue, I start breathing again.

>

>

>

>

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> ( ) Fragile X

>

>

>

>

>

> Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

>

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Thanks, our kids don't seem to completely fit the profile either, but my family

background seems to and I have read that the symptoms do vary. So I think we

are going to go ahead with the testing. Too bad we have to drive 2 hours to get

it done though. Thanks for the link!

>

> Here is a page that talks about fragile x and what it looks like.

http://www.fpg.unc.edu/~fx/pages/overvu.htm

>

> You have to consider your options so it's hard to say to do or not to do

something like that. We never did as we didn't feel our kids would fit the

profile. But if you are worried, I guess you can have the test or get a second

opinion.

>

>

>

>

> Roxanna

> Whenever I feel blue, I start breathing again.

>

>

>

>

>

> ( ) Fragile X

>

>

>

>

>

> Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

>

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I'm not sure for someone without insurance. You might ask your local health

department. They are who originally referred us and it was to somewhere

supported by donations, but they were full so our ped is referring us elsewhere.

We do have insurance, so i wasn't too concerned. I would say either health

department or maybe email some of the non-profit fragile x organizations like

FRAXA. They might be able to give you some advice.

> >

> > Here is a page that talks about fragile x and what it looks like.

http://www.fpg.unc.edu/~fx/pages/overvu.htm

> >

> > You have to consider your options so it's hard to say to do or not to do

something like that. We never did as we didn't feel our kids would fit the

profile. But if you are worried, I guess you can have the test or get a second

opinion.

> >

> >

> >

> >

> > Roxanna

> > Whenever I feel blue, I start breathing again.

> >

> >

> >

> >

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> > ( ) Fragile X

> >

> >

> >

> >

> >

> > Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

> >

>

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Thanks for the suggestions. I did find a test that they are sending me for a

study at Emory in Atlanta for the moms of potential fragile x. I didn't realize

that I would be the carrier for it, so that would be one step towards ruling it

out if I am a carrier. That is very weird feeling too that it might come back

positive. There are days when I despair that something I breathed or ate or did

during pregnancy is the cause of son's disabilities.

I also wondered what physical symptoms parents of fragile x are seeing in their

kids. I read some of the descriptions and DS doesn't seem to fit at all...and

then I read another article and it sounds like him...he has some sensory issues,

not extreme. Long face, but very tall. Poor muscle tone, poor speech

comprehension and an odd speech pattern. So we'll see how that come out and

maybe by then he will have a full time job with medical!

Sue in TN

> > >

> > > Here is a page that talks about fragile x and what it looks like.

http://www.fpg.unc.edu/~fx/pages/overvu.htm

> > >

> > > You have to consider your options so it's hard to say to do or not to do

something like that. We never did as we didn't feel our kids would fit the

profile. But if you are worried, I guess you can have the test or get a second

opinion.

> > >

> > >

> > >

> > >

> > > Roxanna

> > > Whenever I feel blue, I start breathing again.

> > >

> > >

> > >

> > >

> > >

> > > ( ) Fragile X

> > >

> > >

> > >

> > >

> > >

> > > Has anyone on here had there AS child tested for fragile X syndrome? My

doctor suggested it since all three of my children have sensory problems and

some degree of autistic symptoms. However I thought usually people with Fragile

X usually tested low on IQ tests and all three of my kids are very um booksmart.

Only the eldest has had an intelligence test, though and was high I think. Just

wondering if this is really something we should pursue or not. I guess it

wouldn't hurt to rule it out.

> > >

> >

>

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I saw this great page of info at the national fragile x organization --> http://www.fragilex.org/html/guidelines.htm

This page talks about what test is needed and how much it costs, what a doc should request, etc. They also had a tab for research. You might join their newsletter to keep tabs on what might be available or network with other parents of older kids.

Roxanna

Whenever I feel blue, I start breathing again.

( ) Fragile X

>

>

>

>

>

> Has anyone on here had there AS child tested for fragile X syndrome? My doctor suggested it since all three of my children have sensory problems and some degree of autistic symptoms. However I thought usually people with Fragile X usually tested low on IQ tests and all three of my kids are very um booksmart. Only the eldest has had an intelligence test, though and was high I think. Just wondering if this is really something we should pursue or not. I guess it wouldn't hurt to rule it out.

>

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