Fragile x syndrome

[Knej99216]

My child has just been tested for this
Results are weeks away
Anyone have a child with this?
I’ve been reading about it and some things it’s him down to a tee but others not him at all
I guess I just have to wait it out 😭

Bump

It's something that all children with delays or learning difficulties are tested for. It's not that common for the test to be positive. Try to just wait it out and not to read to much!

My DD was tested for this as routine because she had a developmental delay. I believe all children under the care of a paediatrician should be tested. Fragile x is rare I believe. The symptoms can be similar to other disabilities including autism, this is why children are often tested for it. If you google it fragile x usually causes unique facial shape and features too.

Has anyone actually expressed concern that your child may have this?

If it isn't fragile x ask for a micro array to look for tiny duplications or deletions.

He has major speech issues which is where it all started from
To me he looks perfect and has a round chubby face not a long face
He does have a big head, very high palate, the speech issues and the doctors said he had unique features but I think he looks like all my other kids, but he is definitely very different from the other kids much slower and behind, latenwih all mile stones and forgets what he's talking about mid conversation but then can remember things clearly from years ago
His behaviour can be testing but that could be said for a lot of 6 years Olds and he's very loud and screams and shouts a lot
I guess I will just have to wait for the results 😁

Definitely ask for micro array which looks at all chromosomes if fragile x comes back normal. Have a look at the Unique rarechromo.org and SWAN websites

My OH cousin has been diagnosed for years. His mum is a carrier. He is one of 4 and his sisters all have the other X chromosome so are not carriers

Yeah he's just had the micro array test now we are just waiting for results 👍