Fragile X

[theotherfossilsister]

My child has been referred for genetic testing for this condition because he is delayed in development and has fallen to 0.4 centile. Can anyone tell me more please? My dp is autistic.

I am a carrier for fragile X and got a cousin who displays it. I also wrote my dissertation at uni on it. What would you like to know?

It's classed as developmental delay and has many traits with autism and often misdiagnosed as autism. Depending on the length of mutation really does depend on the severity of how it is displayed. You should get yourself tested too as being a carrier has symptoms too, I went through menopause at 36 for example.

DH cousin has it and it is definitley genetic as @kshaw said and comes from the female (it
is a mutation on the X chromosome)

His cousin is a joy but is now in long term assisted living visiting family often.

Thank you both. I am actually experiencing menopause now at 39 and didn’t know why, just figured it was one of those things. The doctor called my partner back this afternoon and said they are making it an urgent referral.

he is two and a half, nonverbal and on the 0.4th centile

I really want the best most interesting life for him possible. We asked the health visitors at every visit and they said nothing wrong then suddenly went to gp and all change

@kshaw so many questions. He is bright in other ways and he has receptive language. He was born with iugr which was unexplained. They did some tests then. He also had unexplained hypoxia at four weeks, but sometimes that happens with premature babies? They tried to find a reason. Dp resuscitated him on the phone.

the thing I most want to know is how we can support him and if he can live a normal life? He definitely has receptive because he I can say if you do this I will do this, if you tidy your toys I will play Bluey, and he understands. Nursery have raised concerns but we had a Salt appointment on the back of that when they said wait another six months

Fragile x testing can confirm the diagnosis OR rule it out. It's a condition many doctors have heard of so does tend to get mentioned as a possibility quite often.

Make sure your son has been referred to a community paediatrician.

You sound like you will be proactive parents who want the best for your son and that will really help him whatever challenges he faces.

Thank you leafy xx

https://fraxi.org/
This might help a bit? I know one of the directors, she's lovely and very passionate about improving provisions for ppl with Fragile X

Thank you. We have a date for the blood test now

Honestly I think his quality of life will depend on the severity of his diagnosis. But please remember just because his life may include a disability it doesn't mean he doesn't have a great quality of life, our job as parents is to advocate and push for best possible outcome. He can live a really full happy life even if it means it doesn't look the same as you would envision.
If he does get diagnosed please speak to your doctor too for yourself, lots associated with being a carrier. Early menopause, tremors in later life and thyroid issues to name a few.

@kshaw thank you so much. Is it associated at all with dystonia as that runs in my family?

The thing which makes me doubt it is that is his receptive language is really really good, but his speech is so far behind.

Some of my cousins have fragile X and they live a “normal” life - mainstream schooling with a little SENCO support, jobs, independent lives with partners, etc.

Whilst they all have the same diagnosis, the impact and their needs are different each one so I think you just have to support and advocate for the child you have.

I don't think it is, I've never heard of that before. The shaking is called tremor ataxia. It is slow onset. My grandad really suffered with it, but no pain with it, just frustration. It's a complex condition really and worth getting tested. As the user below me said, just changed so much per person.