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Fragile x syndrome

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Hi

Does anybody have experience of this genetic condition? My AD is going through a chromosomal screening to ascertain whether any genetic conditions would account for her complex needs? Reading between the lines I think they are querying fragile X?

Thank you

Pigeonx


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I have got a friend who fostered a boy with the condition. It presented as very similar to autism.


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I don't but have a child with a diagnosed chromosome anomaly. Try Unique I think if you Google rare chromo you will come across them. They have lots of downloadable guides on different genetic conditions.


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Hi thank you for replying. Do you know anything else about the support and treatment he received please? No worries if not. I've been reading about it and it was like reading a description of AD. Because her social skills are on the whole are very good for her age, autism was ruled out by CAMHS but so many other issues are similar particularly the hyperactivity problems with focus and sensory needs, she also has the physical attributes of fragile x? Of course it may not be that but always helpful to gather information particularly as we are awaiting the outcome of a statement application! Thanks again pigeonx


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Thanks welovecosta

Pigeonx


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Dd was tested for fragile X when she was being assessed for asd. I thought she seemed to fit many of the characteristics. Did tested negative but was dx asd. Fragile X is far more common in boys as I'm sure you know. It was a few years ago now as she was dx asd 3 years ago. I would take camhs assertion that her social skills rule out autism with a bucket load of salt tbh. Camhs, frankly, in my experience, are pretty clueless about autism in girls. It can - does - present dufferently in girls vs boys but camhs aren't always as knowledgeable as they should be. Both my son and daughter are asd and totally different. A lot of the social skills that girls demonstrate are copied behaviour. They know what they're supposed to do and say but often have no idea why. It's mimicry.


They might be right. But I'd do my own research!


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Thanks Donatella do you think the paediatrician is the best placed to help us with a diagnosis? And/or to assess for ASD? AD also had a brain injury (NAI) they are going to look at the scans taken when she was a baby to see which areas of the brain were effected to consider how this might account for at least some of her difficulties? Feels like there are lots of possibilities but at least now they aren't assuming it's all attachment/trauma related. Whilst there's no doubt this is an aspect my sense is there is more going on for her? Thanks again pigeonx


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Will send a PM


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Hi,


We have 3 members of our extended family with FragileX, all with varying degrees of severity. It is the most common genetic condition in the UK (more so than Down Syndrome etc) but until a genetic test was developed about 15 years ago, it was hard to diagnose, as cases can be so varying in how much they affect people. This can be seen in my nephews and nieces .... All 3 with fragile X are now adults: for one (S) of them you would never know she had it (and if it wasn't in the family she would never have been screened) .... she has passed her driving test, works full time as a classroom assistant, passed GCSEs etc etc.


However, for the other 2 (1 male (D) and 1 female (H)) it is a lot more pronounced and they will never be able to live independently. Both were delightful children and are now wonderful adults. H can read, write and is a dab hand at typing and texting, but has no understanding of money or future planning, D has no numeracy or literacy skills, but loves to help with washing up, changing beds and gardening and .... although stroppy at times, he is a joy to be around. He is very social (unlike classical Autism is supposed to present), as long as he is with someone he trusts, and is happy to try new things too, again if he feels secure.


I guess what this has shown me is that everyone is different, and may be differently affected. A label doesn't change who they are, but hopefully might help explain some behaviours and also get help for you all. Hope that helps. Happy to chat more if you think that would be helpful. Also see the fragile x society website as there's lots of info there too


Aldwych


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My nephew and his mum both have Fragile X Syndrome! My brothers bs and sister in law. She shows difficulty in literacy and numeracy but has an amazingly scary memory! Lol my nephew however has difficulty in independent living skills. He can make a cuppa and small things like toast, use the micro etc but no concept of money, roads, doesn't always speak clearly but does speak ninety to the dozen and has an amazing personality. He is now 22. As a close relative to autism it can show traits like hand shaking, repeating a lot, jumping as well. As others have said everyone is different but in our own personal experience he is our nephew and that is that. He has his difficulties but he has carers who take him out to his clubs, the gym, the pub lol etc. He will not have the ability to hold down a job. My ad and him get on amazingly well. He always gives my ds money too lol. He loves him to bits


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