My Flaky Thread Part 2 - genetics appt today, feeling stressed about it!

[fanjoforthemammaries7850]

That's it basically.

After the last hideous appointment am not exactly relishing the thought of this one, or of holding DD down if they take blood.

What time is the appointment ?

2.40

blood tests are awful :( I hate not being able to explain what's going on. Will be thinking of you & dd.

(also hate afternoon appointments when you have the whole day to stress)

am not sure they will do any as she has already had standard tests done,depends if they think they have spotted something i suppose!

and, thanks

Good luck for later hope it goes well.

on a positive note dd said a few clear words yesterday,was amazing to hear her clear voice again after 18 months. My mum is thinking she is miraculously cured though,i think not!

18 months is a long time to wait but nice to know she's making progress. Well done her.

Good luck for later.

yes,she has spoken a bit in 18 months but nothing clear until yesterday. Thanks for the good wishes

on a positive note dd said a few clear words yesterday,was amazing to hear her clear voice again after 18 months. My mum is thinking she is miraculously cured though,i think not!

Did you say the appointment is in Glasgow or did I imagine that ?

good luck for today , we saw ours last month had microarray done

this one is in edinburgh,glasgow appt is Nov

hope it goes OK.

thanks.

At least we are going for dinner tonight then to see Ross Noble who always makes me laugh lots.

Good luck!!

thanks, leaving very soon, feel a bit sick!

Don't know if you're coming back before going off to see Ross Noble - but i hope all went better than expected. Love Ross Noble's voice - I'm one of the millions that melt at a geordie accent. Hopefully his voice soothes you and his humour makes you LOL!

Well, that was interesting.

The geneticists said her chromosome array is NOT back. The neurologist had told us it was back and normal so they were now looking for rare conditions.

However it is definitely not back yet!

So there still could be a simple explanation.

They also don't feel it is progressive but said they had got the impression from the referral from the neurologist that it could be.

So we have been worried for nothing and been told INCORRECT test results too.

I am not impressed to say the least.

they took blood for further tests, DD was good as gold and just lay there quietly, didn't even cry!

Off to see Ross Noble to cheer me up! (he always makes me cry with laughter, have seen him about 5 times!)

Wondering whether to complain to neurologist.

I would definitely ask your neurologist what results they were looking at. Knowing the organisational skills of these kind of departments, they may not have even been the results for your DD!
Have you seen the referral letter from the neurologist? It really winds me up when they put in leading statements basically telling them the answers they are looking for. They should have been able to come to their own conclusions without any inference from the neurologist.

ross was v funny. Bumping as outraged we were told tests clear when not done yet.

people will be thinking i'm a troll with all the changes to the professionals' stories, can't imagine what they will come up with next!

Don't think your a troll at all

Hmm maybe they mean the basic tests for fragile x and some metabolic disorders rather than the microarray we been warned were probably looking at a chromosome deletion or translocation with ds3

I would just like a name that cover it all even though has differnt dx fir differnt bits genetics convinced that all linked

no they meant the basic test,they took blood yesterday for the microarray!

i did not even know when ours were back but was not expecting them show anything

Ah so were pretty much at the same stage then there thinking were looking at something rarer to