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.

Well,I had been told they were looking for something rarer.but then they said the first lot of tests weren't back, I think they suspect something rarer too as she has such a range of issues, it's a terrible wait isn't it!

yes its the same here ds has l,ots of dx but there convinced its all linked , i just like to know so can least get some idea of prognosis

Yes, if it isn't something like that with DD then it's probably something progressive, so just want to know really.

could you get hold of a copy of her notes? It will have copies of referral letters etc just so you have a clearer picture of who is saying what & what has been done?

(I'm not even remotely disbelieving of the professionals changing story as they go )

not sure, they seemed at great pains to keep things secret from us!!

fanjo - not incredible at all that sometimes the professionals cock up with their paperwork and/or children don't fit into their neat diagnostic boxes.

roundthebend - so are they now thinking something different from CP then?

re:access to medical records - don't know if scots law is same as UK - but under UK law it should be v. straightforward to get access, the position is you get access unless there is some massively good reason otherwise.

re:complaint - I wouldn't complain yet - if you or DH could face up to phoning up cons. via secretary next week, and politely asking why on earth you have been told contradictory things re:results.

I won't complain yet, will either contact secretary or wait until the results ARE back, might wait until next meeting with the neurologist to bring it up.

It's all a mess. Not sure I could face reading the grim sounding referral letters at the moment.

hi fanjo

sounds hard to believe but due to mistakes ds has had to have his blood redone THREE times now! really hacked off with it. it is so unfair on ds who know hates hsopitals and also means long delays in researching what's wrong.

also waiting for a eecg appointment for 4 weeks- will need to chase as no doubt something has gone wrong there.

would definitely complain in writing to hospital they need to look at their systems.

what we asked for is that we were cc'd in on everything written about ds - that means we have copies of the referrals/reports/appointment notes etc. It has helped to keep track of who has been saying what to whom.

I hate reading the bloody things though :(

In England PALS can help get the notes, not sure how it works in Scotland. We simultaneously requested notes & made a complaint only for the notes to 'disappear', if you want the notes & to make a complaint then I'd advise getting the notes first.

Have sent an email just asking to confirm that these tests ARE back and clear, didn't want to get heavy handed about it but wanted clarification.

We are sent copies of the referral letters but the neuro puts secret PSes on them, DH uncovered on when DD was in hospital saying could they look for Rett syndrome as I had a tremor in my hand too, so then i was worried about myself too. Not sure I could face reading the letters in full!!

at that particular secret PS!

hopefully you'll get a sensible explanation re:genetics tests

yes, I was actually fidgeting with my hand as I had a trapped nerve in my shoulder from lifting so my hand was tingly, which I would have said if they had asked me!!

Got a reply from secretary saying Professor not in until Wednesday but there is no hurry I suppose!!