First appointment with geneticist on Fri - trying to write a list of questions, some help please!

[hazeyjane]

After a 5 month wait, ds is finally going to see a geneticist on Fri. I am my usual bundle of neurotic nerves in the build up to the appointment, and want to make sure we make the most of our time. Unfortunately our childcare for the day has fallen through, so we will have to take dds (5+6) with us, which isn't ideal because dd2 gets freaked out by hospitals-but we will get some new distraction for them. I get really flustered by appointments though, so want to make sure I am armed with the the questions I want to ask.

I just wondered if there is anything that I should bring up that I am not thinking of. Also there have been a couple of deletions that I have read about and that people have mentioned on here that I think have similarities to ds, will the geneticist sigh and roll her eyes if I mention them?

Should I ask about the DDD study? or will ds be put forward anyway if it is relevant?

Sorry if this is all a bit rambly, but I feel as though we have been sent around the houses wrt ds and testing (tons of specific blood tests, mri etc) and I want to try and get myself into focus before we go.

As its the first appointment, I think quite a lot of it will be taken up with the geneticist asking you for information - it really depends on what they have been sent, and whether the tests are the right ones to give all the information they need, or they may need more.

I'd suggest you write down all of the things you have on your mind and then ask as appropriate. We saw the geneticist in conjunction with a specialist genetic nurse - she did some of the fact finding, (I think she visited us at home first) and was also available to call if we had any questions later which was very useful.

Hazey, we have always had to bring the troops to genetic appointments as they like to see the whole family. I know what you mean by the kids getting restless. I usually take the iPad and portable DVD player.

Write down all your questions first. Group them together depending on subject matter. If you don't understand about the probabilities then ask them to explain it more simply. Don't forget, they deal in DNA sequencing, mutations and look for common and not so commonalities everyday. You don't. So they don't always make sense.

If it's a recognised condition then generally he will have a 50% chance of passing it on to his children. That has always been my understanding.

We had to learn all about chromosomes, germline mosaicism, mutations of the Treacle gene and risks of reoccurrence when we went through all this in 2000. It turns out we are in the 5% where the mutation of the Treacle gene was not found. So until they find it somewhere else, my children will have to rely on a clinical diagnosis in-utero for any children that they may have.

I bought Genetics for Dummies to read. Not sure it helped though!

Thankyou.

A genetics nurse has already called to get some family history, but it's all a bit blurry on my side, as I have no contact with my father or his family (but there are a lot of family memebers with mental health issues and cousins and siblings with disabilities) - my family is a mess, and it is all stuff that no-one is allowed to talk about so I am finding the whole process of going through all this stuff very difficult! Probably one of the reasons why I don't want the girls there (I am so anxious about the whole thing that there is a good chance i may cry, despite my best efforts not to!)

Getting the genetics nurse's number seems a good starting point though, thankyou Starfish.

Dh and I don't plan to have any more children, but would obviously like to find a diagnosis for ds, and also would like to know for our dcs sake.

I have taken some books about genetics out of the library, but they are so far over my head that they are in the clouds! Is 'genetics for dummies' worth buying, Sallybear? I am about to do an Amazon order and will stick it in if it is.

Well "genetics for dummies" had me looking up lots of complicated words like aneuploidy. Which means, btw, that it is an abnormal number of chromosomes, and is a type of chromosome abnormality. Lots of words ending in somy! It's interesting, but I don't think that it's a layman's approach to genetics! Anyway not exactly bedtime reading, but very informative.