Does anyone know anything about or live with Fragile X Syndrome (full mutation)? We've had some hard news about our 1yr old and I just want to hear some personal experience instead of just the medical point of view.
Does anyone know anything about or live with Fragile X Syndrome (full mutation)? We've had some hard news about our 1yr old and I just want to hear some personal experience instead of just the medical point of view.
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9 Replies
All I know is it is the most common cause of autism symptoms, my daughter and my sisters children were tested and it wasn't fragile X.
Its more severe in boys than girls. There are ways and means to minimise the impact. If you google there is an australian fragile x support group with loads of info....what is known anyway.
We fit the family health background criteria.....but its not what is screwing with the gene pool.
We don't fit the background. We don't have history of unexplained intellectual disability and only one person in the family has ever been diagnosed with autism. It's such a shock and to make things worse, I'm 11 + 5 weeks pregnant and there's a 50% chance this baby will be passed the gene too! I don't know how I'd cope with two... I hardly coped with my son as a baby. Literally the first 11months of his life, I was a mess tearing my hair out because he was SO demanding! So much so that I didn't want any more kids ever because I didn't ever want to have to go through it again!
The background isnt unexplained intellectual disability it is alzheimers and early menopause
Unexplained intellectual disability within the family is one of the things medical professionals look for. Also, parkinsons disease, early menopause and dementia. We have dementia in our family in extremely elderly people but none of the other red flags at all.
http://fragilex.org.au/what-is-fragile-x/ the site
Thank you. I have already had a look at this site but I now want to hear from families living with it :) I find personal experience to be much more useful than the matter of fact medical view that puts all people with the syndrome into the same basket.
Ive worked with a couple of fragile x clients. Lovely kids but like autism how you cope and your attitude makes all the difference. If you baby the child and give in to there every whim and don't expect them to learn you will make life very hard for yourself and your child.
Assume competency and the ability to learn and change behaviour and you will find life is so much easier.
Speech therapy, Applied Behavior Analysis can both be very useful therapies and a combo of both is preferred.
PS I'm also mum to an adult son with autism so I do understand.
Thank you. We were very shocked at the diagnosis. Our son is a little bit behind but we were not expecting a diagnosis of possible intellectual disability of any degree.
That said, we're lucky that he has been diagnosed young and we can now begin with early intervention. We are hoping that he only has a smaller number of full mutation repeats! And I do fully expect that if we support him he will be able to learn (although the medical information does not suggest this, that's why I want personal experience! I don't want to be told what my son won't be able to do! ).
I can put you in touch with someone who has a lot of experience and knowledge on the subject. If you would like to send a private facebook message to SPOTS - Sensory Purposed & Occupational Therapy Supplies I'll provide details.