I think that we may have a DX in the pipeline

[misscutandstick]

3mths ago DS5 had a second lot of bloods done, one in particular was to check chromosomes. we had no results at all back for the chromosome tests, all others came back fine.

Now we have been sent a letter asking us to attend an appt with the geneticist in 2wks.

sounds like they've found something doesnt it? they wouldnt ask me to attend and take up time from a genetist, if there was nothing would they? and if they wanted just to retest they would ring up and ask me, like they already have done TWICE. But i have appt with Paed the week before, if there was any news do you think he would tell me or do i have to wait for geneticist (assuming that there is something to tell). WDYT?

misscutandstick sorry carnt help am just going to ask if dd can be tested for genetics

IME ds's Dr.s always tell me results from other Dr.s. Saw neuro this week who told me about DSs endocrine blood tests following his controlled fast - have result appt with endocrinologist next week so will try to look as if they are news to me . I think if they are in his notes, it is hard not to comment on them. If nothings 'accidentally' mentioned, I (being very nosey and demanding) would ask. If its something he is uncomfortable discussing (not nec. bad news, more not his area etc.) he can always say so. Also, it would save you getting your hopes up if there isn't any real news. Sounds hopeful though. Good luck x

IME it depends on the hospital whether your paed will have geneticist's results on file, but DD's other doctors will always chase results for us. if geneticist has anything to report she contacts us by phone. Why don't you ring geneticist's sec and ask?

Its a specialist geneticist from another county who 'does the rounds' every few months,we've been asked to see. The blood tests were organised by the Paed and the geneticist has been 'invited' to see DS5 and comment on results and take a 'look' at DS5. So im not really in a position to talk to the geneticist until the appt.

But this is also why i think that they have found something. because of the appt with the time-limited geneticist. TBH my moneys on Fragile X syndrome if anything, which was half mentioned several months ago in passing, as a possibility when autism was first mentioned (by me ).

I see. Ours comes out to our local hospital, but is based at GOSH. I would get the paed to chase up results then. How would you feel if it was Fragile X?