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okay, tell me about fragile X ?

(46 Posts)
LeonieBooCreepy Wed 14-Oct-09 10:12:53

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LeonieBooCreepy Wed 14-Oct-09 10:21:32

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LeonieBooCreepy Wed 14-Oct-09 10:43:17

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LeonieBooCreepy Wed 14-Oct-09 10:43:56

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Marne Wed 14-Oct-09 10:49:55

Hi, i don't really know a lot about fragile x but suspect that our family may have it, both dd's are on the spectrum, dh has 3 children from his ex wife, one of them has a long face and large ears (but no learning difficulties). Dd1 is very small but in proportion and dd2 has a large head but perfect ears. Dh has a long face but normal ears.

It sounds like they want to test because you may have more than 1 child with learning difficulties.

Fragile X has not even been mentioned to us but i think i will be mentioning it at dd2's next appointment as i would like to know the chances of any future children having learning difficulties.

ChopsTheDuck Wed 14-Oct-09 10:55:50

don't panic.

I was realyl worried when ds was referred, as he really does have the physical characteristics, and hms, and asd traits, but he came back clear.

My dd's best friend has a brother with fragile x. He has learning difficulties but not autistic symptoms. He attends special school but is mostly independant as he is growing up and doing well.

I think it is common to be tested for it where asd is suspected, but it doesn't mean they are going to have it.

LeonieBooCreepy Wed 14-Oct-09 11:14:04

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ChopsTheDuck Wed 14-Oct-09 12:05:24

don't be sorry, you are allowed to be upset.

I think the support you get shouldn't really change, it's about what they need, not a dx.

I know there are studies that support the use of ritalin with fragile x, but I'm sure there are other approaches. I know my friend has taken a more therapy based approach with her ds. He has done hydrotherapy and all sorts to help him. You can look into all that if it comes down to a dx. Will keep everything crossed for you that it doesn't.

Your dd is gorgeous btw. smile

Now try to stop googling!

LeonieBooCreepy Wed 14-Oct-09 13:43:44

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magso Wed 14-Oct-09 14:42:05

Dont get upset about medication. No one will force this type of medication on your children whatever the tests show.
Frag X testing is often done in young children with suspected ASD - I think because it can be tested for - and there is no laboratory test yet for ASD itself.
Your dd looks gorgeous!
If you want further information on FragX the website is I think www.fragilex.org.uk. I have often wondered if ds should be screened too!

LeonieBooCreepy Wed 14-Oct-09 14:42:59

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BobbingForPeachys Wed 14-Oct-09 14:52:37

Oh I am glad they listened Leonie

We weren'toffered fragxtesting because Paed said ds3 isn't dysmorphic- actually he is a bit but has silly long curls that cover ( large head, kind of 'blank face' appearance)

It's a usual test to offer but shouldn't affect support and DLA as they are needs bassed, and ritalin is chosen not forced

BobbingForPeachys Wed 14-Oct-09 14:54:13

I am struck Leonie by how much your dd looks like I did as a child,and ds1

I shall pop up pics of the boys but will ask Paed myself perhaps.

asdx2 Wed 14-Oct-09 15:06:34

Our paed routinely tests for fragile x and hypothyroidism in all children who display autism symptoms.
Obviously having two with autism makes them more suspicious of a genetic link although my two's chromosomes are normal.
Paed suspects with advances in testing that something may show on chromosome 15 purely because I have two with autism , 1 with dyspaxia and two mathematically gifted and he says chromosome 15 is susspected to play a part in all those conditions.
Hypothyroidism in children causes autism behaviours but is easily treated so that's why he wants that checking. Try not to panic it's good that paed is so on the ball.

BobbingForPeachys Wed 14-Oct-09 15:14:26

there you go Leonie

but ds2 (and ds4 so could be interesting) look similar too had shape wise so almost certainly just genetichead shape rather than anything else

Millarkie Wed 14-Oct-09 15:36:20

Have only read the OP but do you think DD,DH,and DD have fragile X - because from what i understand if your DH carried a full mutation he would have the full syndrome and if he carried a premutation he would have daughters who have a premutation (and therefore not have symptoms but will be carriers).
The inheritance is normally via a mother - so a mother with a premutation can have boys and girls with either a premutation or the full syndrome but with the girls being less affected (cos they have a spare X).

LeonieBooCreepy Wed 14-Oct-09 17:04:16

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LeonieBooCreepy Wed 14-Oct-09 17:06:22

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cornsilk Wed 14-Oct-09 17:08:08

My ds was tested (came back clear) and I was also really worried before the test. I rang Paed and said I didn't think he had it and didn't want the test, Paed explained that it's a routine check to rule Fragile X out, which it did. (Still waiting for AS diagnosis some years later though...)

LeonieBooCreepy Wed 14-Oct-09 17:15:33

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cornsilk Wed 14-Oct-09 17:17:04

They're gorgeous Leonie!

cornsilk Wed 14-Oct-09 17:18:39

Peachy your ds1 has a similar jawline and mouth to my ds1.

LeonieBooCreepy Wed 14-Oct-09 17:19:46

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Millarkie Wed 14-Oct-09 17:34:04

Leonie - I wasn't suggesting you should be worried, more that from a genetic point of view it would be very unlikely to be transmitted from a father to his daughters.

BriocheDoree Wed 14-Oct-09 17:53:34

DD has just been tested for it - again, all ASD or similar cases in the particular hosp she goes to are tested for it. The facial characteristics are stronger in males, and often don't appear until after puberty.
It was made quite clear to me that if she does test positive it doesn't actually make any difference to her treatment - i.e. she continues with the therapy she already does. Certainly no question about putting her on drugs!
Anyway she's been tested for a whole bunch of stuff inc. metabolic disorders as that's what they do as routine here when kids with this sort of dev. delay hit 5 years. Don't get the results for a couple of weeks, though.

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