Please or to access all these features

Add post

Watch this thread

Save thread

Start a new thread

Flip thread

Hide thread

My feed

Active Unanswered threads

Getting started FAQ's

Unanswered threads Acronyms Talk guidelines

Hide shortcut buttons

Talk

SN children

Here are some suggested organisations that offer expert advice on special needs.

Flip

1 2

Original poster

Fragile X Syndrome

45 replies

JAKEJEM · 20/09/2005 21:32

Some of you probably remember me posting on here before about my DS who is now 3 and has been provisonally diagnosed with autism. We are now awaiting a multi-disciplary panel for a final assessment. Whilst waiting, it has come to light that our son may have Fragile X Syndrome. He certainly has ALL the characteristics and our GP/HV/SALT & Portage worker agree. He has his blood tests on Monday and I wonder if anyone else knows anything about this and how long the blood tests take to work etc. Would be grateful for any replies. Thanks once again. Nikki.

OP posts:

tamum · 20/09/2005 22:33

Jimjams

Jimjams · 20/09/2005 22:34

not that you're going to c band for frag x of course!

Anyway I must go to bed. 3 hours up with ds3 last night. Bet ds1 does a turn tonight....

Jimjams · 20/09/2005 22:35

God I hope I'm better at Psychology (start this week!)

Flicking through that cytogenetics book- it's all a complete blank.

Jimjams · 20/09/2005 22:35

oh sorry hijack- anyway good luck. I remember hating for the resuts to come back so thinking of you xxx

bluebear · 20/09/2005 22:35

Can't believe I'm on MN and giggling about C-banding - how sad am I. Night!

Original poster

JAKEJEM · 20/09/2005 22:39

Thanks for all your replies, am totally confused with all these words!!!! will let you know how we get on. Good look again for tomorrow Lillypond. X

OP posts:

bluebear · 20/09/2005 22:42

Sorry for the hijack Jakejem.

I remembered that there's a fragile X society, but it looks like their website isn't complete. It's at www.fragilex.org.uk/
if that's any help.

Hope your test results come through quickly.

Lillypond · 20/09/2005 22:55

Thanks jakejem, I'l be looking out for your results when you post them.

Good luck

Philly · 20/09/2005 23:03

We are going for the bloods for chromosome testing on 30 September.I have been told that it will take about 10 days for one set and 28 for the others.What are the markers we should be looking for ?In general we are talking about dev delay for ds2 although the paed seems to be quite focused on the shape of his jaw and largish tongue,he also is hypertonic.

Jimjams · 21/09/2005 07:45

Has he said what he's looking for? Would also be worth asking for a referral to a genetic counsellor....

Fio2 · 21/09/2005 08:45

Poor Jakejem, my brain hurts from reading this thread good luck with the tests jakejem and lilypond

Philly, they usually do a number of chromosome tests, amino tests, eeg, ct(or mri) for development delay (my daughter was originally diagnosed with this at 2) Then is all is clear they look at doing other testing, such as genetic counselling, neurology etc. It seems if he is comenting on your sons physical appearance it may be likely he has a genetic syndrome in mind. It pays to ask. Oyur daughter was tested for Retts syndrom around that time and the Paed let us still think she may have it when she was coming up to 4 yrs old even though the test was negative. Apart from anything else it is completely worrying. Good Luck with everything

auntymandy · 21/09/2005 08:47

I did a bit on fragile X for my special needs course years ago...have you got all info you need now? Could look it up for you if i can find my file!

Philly · 21/09/2005 12:02

Have just found the site forUS fragile X society,very inforative but frighteningly accurate description of ds2 albeit at a low level.He is actually 8 and copes very well but he does have problems which are not resolving themselves and we feel that to make sure he gets the maximum amount of help he can we and our GP felt that we should attempt to get to the bottom of the situation.

Original poster

JAKEJEM · 21/09/2005 20:41

Thanks for all your messages, I will let you know how we get on. Lillypond, hope it all went ok today, I was thinking of you and your DS. X

OP posts:

Lillypond · 22/09/2005 16:43

Thanks jakejem.

I made a bit of a balls up actually. We took him yesterday afternoon but children can only be seen before 12 noon and by appointment. I bet you all knew that . So we took him back this morning. He was a really brave little lad - I was so proud of him. It looked like such a huge amount of blood to take out of his tiny arm and I think he was a bit scared, but he stayed very still. He got a bugs bunny plaster and a certificate saying 'I've been brave' which I thought was great. Not that he was very impressed

Hope your sons test goes well jakejem.

Original poster

JAKEJEM · 22/09/2005 20:36

Hi Lillypond, glad to hear it all went as well as possible, please keep us informed of the result. Did they say how long it would take? Take Care X

OP posts:

Lillypond · 22/09/2005 22:31

No - sorry jakejem, forgot to ask. You probably already know this but your DS may need to give a urine sample. I didn't even think about it before we went and then I panicked as DS will not do a wee unless he is desperate. Luckily he was

I was having a look at a website for Fragile X and I really don't think that DS has it, but I'm glad we've doen the test just to rule it out. I really hope that they can give you the result quickly especially since your DS is showing all the other characteristics as well as autism.

I hope you're alright. It's hard enough to accept a DX like autism and it seems very unfair that you've got to go through this. Not sure what your son's history is but we have had worries with Liam since he was born due to a cosmetic deformity. We have never experienced the bliss of just enjoying our child, we just always knew that things wouldn't be plain sailing. We've only just got our autism DX and although it was dreadful in some ways I felt a bit relieved. I don't have to worry about what the DX could be anymore, and I can concentrate on coming to terms with the one we've got. I didn't think it would be like that. I think I'd find it very hard if we we're also having to worry about the result of this test as well.

I shouldn't really be tempting fate by saying that I'm not worried about it though.

I don't know anything about Fragile X so don't know what kind of implications it would have on your DS's future. I wish you all the best though and hope your DS will cope with the tests okay. Liam was very tired this morning which probably helped him to relax.

Good luck jakejem.

Original poster

JAKEJEM · 22/09/2005 22:47

Dear Lillypond,
Thank you for your lovely words of support, and I wish all the best to you and your family. It is a very difficult time and I know what you are going through. It would be nice to keep in touch, so if you feel up to it, please CAT me and I will send you my E-mail address. Just off to bed now to catch a few hours before the little man wakes up! Take Care, Nikki. X

OP posts:

Lillypond · 24/09/2005 16:36

Thanks jakejem. I will cat you as it would be nice to chat to someone who's going through the same things. Our boys are about the same age as well

roxtheapple · 07/11/2012 12:22

This reply has been deleted

Message deleted by Mumsnet for breaking our Talk Guidelines. Replies may also be deleted.

Flip

1 2