Could it be fragile X?

[staryeyed]

When Ds was diagnosed with ASD he was tested for fragile X although the pead said she thought it wasn't fragile X. When we last saw her she hadnt had the results back but said she would let us know. Havent heard anything and so far have assumed it didnt matter because Ds doesn't have the long face that the pead said was a feature. When I have read more I realised that the face gets longer with age Ds is only 2 and my son fits quite a few sympoms- ears are largish and joints are flexible and no wandering if paed hasnt told us about a positive result as in hasn't got round to it. Now wandering even if test is negative whether we should ask for DNA test?

Can anyone help me with this. Don't know if Im being a neurotic mother or not.

[needmorecoffee]

I'd hassle for the results.

[coppertop]

I think that if you're worried then it's worth phoning to ask if the results are back yet.

FWIW ds1 has a longish face and the flexible joints but definitely doesn't have Fragile X.

[staryeyed]

Ok thanks coppertop. I tried to call today but cant get through. Will have to wait till next week now.

[yurt1]

I had to chase up the Frag X results as well (negative- although he is well hung- another feature )

[hels9]

You're not being a neurotic mother, you're reacting quite normally. It is definitely worth phoning up to chase the results, as waiting, wondering and worrying is not good for the health. However, biggish ears and loose joints are pretty common physical attributes. My son has loose joints, biggish ears, flat feet, a long face and an unusual personality, but he most certainly doesn't have fragile X - his concentration span, cognitive skills, fine motor skills and memory are far too good for that!

[staryeyed]

Got the fragile X test results finally- says does not have fragile x. Should I pursue this further (demand DNA) or should I accept this result.