Well, 4 weeks later..

[fanjoforthemammaries7850]

Just had a reply to my email from 8th October, which asked neurologist whether my DD's initial chromosome tests were normal after all (she had said they were but genetics said not back yet), saying yes they were indeed normal.

She said she took so long to reply as she was on leave, strangely her secretary told me 4 weeks ago that she was back in the office on the next Wednesday

Anyway we are just back at square one looking for rare conditions but have had a bonus extra few weeks of worry...yay!

if i was really cynical i'd think they weren't back at the time and have just come back as normal (they were expected now) but I can't afford to think like that as it's just too depressing.

If there's a specific thingt ehya re after sometimes they ask the geneticvs team to prioritise that UUYSWIM.... so when she said notrmal she really emant 'normal for what I was looking at' (Retts?)

She should be more open if thats the case

No, the Rett's was normal - I saw that result myself.

It was the initial karyotyping and the Angelman syndrome tests that she had told us were normal but geneticists said were not back yet.

That really is odd then fanjo; a strange one.

I'd say she ahd heard a verbal that angelmanns was unlikely and didn;t wait for full karyo but that would be quite worrying.

it IS a bit worrying, the whole thing has been a nightmare so far, what with progressive conditions being ruled in and out at the drop of a hat as well!

Sorry you didn't get any results back that could tell you anything :(

I hope you get somewhere soon.

(love the name change peachy)

Thanks, waiting for microarray results now, some metabolic tests and our tertiary referral appt in glasgow on 22/11.

Grr am annoyed!

Geneticist responded to me, and copied in neurologist, saying that they were talking about the microarray, which was done that day so obviously wasn't back yet.

I didn't want to go in all guns blazing so just replied to both saying his registrar definitely told me, and my DH, that no results were back at all yet, but perhaps she misunderstood what we were asking about.