Fragile X

[3ismylot]

Hi all was wondering if any of you have children or know children with this condition?
My Best friends son has just been diagnosed with this and was looking for some support and advice for her.

He is nearly 2 and they did some tests as his development is quite delayed and they wanted to check for underlying issues. He has just started to sort of crawl but isnt over interested in moving, he loves to stand but needs full support and he doesnt really attempt any speech.
He is a lovely sociable little boy though and loves to play with my 1 year olds and has a very cheeky smile

The fragile x runs in her Dads side of the family and her aunt and uncle have it but no one has ever really explained it all to her, She has been told that he will eventually walk and that he will need to attend special needs nursery and school but thats about it.
She is obviously in shock at the moment so I dont really want to bombard her with questions/offers but I do really want to help as much as I can.

Before the results she was advised not to get pregnant (they want another at some point) until they knew if it was genetic, is it likely that any siblings would inherit it too? She had a miscarriage before and after her son both around 8-10 weeks so has really been through the mill the last couple of years She said before getting the results that they would still have another if the chances were high of a problem but I dont know if the reality will change things. I know its early stages but would she get help with IVF? before the results I offered to donate eggs in the future if needed but they wouldnt be able to afford private help and I dont know if they would get it on the NHS due to already having a son??

Sorry Im rambling a bit, just trying to think of ways to help her.

So if anyone has any advice/experience I would be very grateful

TIA x

I have little knowledge of Fragile X, I'm afraid.

But I have to say what an amazing friend you are for coming here to find out. I applaud you for supporting your friend through a very difficult time.

I have no personal experience of Fragilex (ds has never been tested) but some of his school friends have fragilex -Ds attends a school for children with moderate learning disabilities. There is a UK Fragile x society who are extremely helpful fragilex.org.UK.

If it is in her dad's side of the family then there is a strong chance that she will have the premutation gene herself (if it had been passed on through her mum then she would have either the premutation or the full mutation in one of her x chromosomes). Basically it passes on from one generation to the next and goes:

Man has premutation. Has son or daughter Son or daughter inherits premutation.

Man has full mutation. Has son or daughter Son or daughter inherits premutation.

Woman has premutation in one x chromosome. Son or daughter has either full mutation or premutation.

I have a load of traits of the female full mutation (females are usually less affected than males due to having two x chromosomes), but Ds1 was tested (standard procedure for ASD) and I was and both came up negative, so just a coincidence. But I looked into how it could be passed on as I also recognised strong sides on my mum's side of the family, via her dad and her having the premutation, but again just a coincidence.
Females presenting with the premutation show signs as well, eg of social anxiety and some gynaecological issues. It's also possible to have the premutation and have no signs. And of course I would say it's perfectly possible for the mutation to skip a generation or two as well.
A simple blood test can confirm if she has the premutation.

Sorry, other post should have said of course that man or woman having son or daughter could have son or daughter without pre or full mutations.

I meant to say the lady at the FragX soc was very wise and helpful and answered many of my questions ( I have a suspician ds may have Fragx but as he is adopted we could have him tested). It may be worth ringing to see if they know about IVF policies in families with Fragx.

Thanks for that will check out the website and pass it on to my friend too.

Spinkle Thanks for saying Im a good friend but I think its my Friend who is the amazing one x She has been faced with so much and come through it all so strong so anything I can do to ease the shock for her is the least I can do x

I know that her aunt and uncle has the full mutation and her Dad is uneffected (maybe has premutation?)

She knew there was a problem with his development but I think having the diagnosis in black and white has crushed her I want to do loads to help her but am also wary of interfering so may frequent this section of Mumsnet for a while and get some ideas and advice x

Any diagnosis (even when strongly suspected) is a shock. I know I and many others have got a bit down for a while as the news of a different future settles in. It may help to gently remember that her dear child is the same happy lovely child as before the diagnosis. The diagnosis is a signpost to getting the most appropriate support. It is lovely that you are wanting to support your friend, as good support can make such a difference.

She has been over today and she is still trying to take it all in but she has been on the fragile x website and is starting to see the positives of the diagnosis (mainly him getting the help he needs)
She is more annoyed with her parents than anything as they havent been honest with her about her aunt and uncle and although she wouldnt change having her ds she would have liked to have known the risks before getting pregnant to have been prepared.

I know she will get through this and I know she will continue to be a great mum, I just want to help her through the tougher stuff, have offered to help with form filling and going to playgroups with her (she is worried about people being nasty)
She and her Husband havent had a night away from him since he was born and I am trying to encourage her to let someone (grandparents or myself) have him for a night so that they can have some time as a couple, she worries as he doesnt sleep through most nights but I have 1 year old twins so am used to that lol, I obviously wont push her into it though!

She is waiting to get genetic counselling and is going to have herself tested for the gene just to see if she has it or is a carrier.

On a good note this week he has learnt to clap and is doing his own version of crawling so he is starting to advance.
I have suggested this forum to her but dont know if she will come on but she is going to join the fragile x site and hopefully she will get support that way too .

My neice has fragile X
I think she needs to get referred for genetic counselling ASAP, I've been and found it very helpful.

Meant to say thanks magso will keep an eye on her for the next few weeks as she can get very down at times anyway.

you sound like a lovely friend, well done for being supportive and being there for her. This may sound a bit hardfaced, but I would suggest she looks into disability benefits for her DS (DLA and possibly carers allowance) as soon as possible (I say asap as the government are likely to really tighten up on claims in the near future). oh and many areas have what is called a "portage" service- they send out a trained worker to the house of pre-schoolers with special needs once a week or so, to help bring them on with appropriate play etc. think the website is www.portage.org.uk

Hi - we have a 3 yr old boy with Fragile x, diagnosed last April. He is walking fine now (a bit wobbly) and his speech is coming on. He now talks in 3-4 word sentances. His understanding is all there - it's easy to assume that because the speech isn't all there, neither is their understanding but that's not true. He's a very happy, smiley little chap and although some of his behaviour and sleep (lack of) is challenging, he is, on the whole, no more challenging than any other 3 year old - just different challenges.

We have a huge amount of support here in Cumbria. He has speech therapy play sessions and has attended child development sessions once a week for nearly a year (all free); that has brought him on loads. He attends mainstream nursery and will probably attend mainstream primary school with support. Beyond that we don't know so in the meantime we're just making sure we access all the support there is out there to maximise his potential.

It was a shock to get the diagnosis (we had no idea that my dad, me and my sister were carriers until blood tests after ds's diagnosis) but we have the attitude that we can't change anything now and we are blessed with a gorgeous boy who makes us laugh so much every day. We had genetic 'counselling' which was very imformative but the lady was quite blunt with the facts and future prognosis so we've chosen to ignore most of her negative comments and work on each day as it comes. It can be too much to take in at once.

I can't have any more kids - as a carrier I went through early menopause straight after ds was born - so we're going to hopefully adopt a sibling (or 2?) for him so he grows up with siblings like a 'normal' family. With any luck they might even be around for him when he is older and we are old or gone!

There is a test that can be done in pregnancy for FXS (like the Down's test) but then if it's positive you're left with that horrid dilemma.... And apparently there is IVF available that can test before embryo implantation so that might be worth investigating?

Im happy to offer any advice but it's still new to us too but it always helps talking to other FXS parents.

If you get her to go onto the carers.com site there's a mum there with 2 older boys who suffer from this condition she is extremely knowledgeable and friendly.

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