Why are genetics appointments always so tough?

[chonky]

We took dd for a genetics appointment yesterday (first one in 18 months), and for some reason it completely floored me.

They offered us a test which may (or may not) give us an answer, although there's only a 10% chance that it'll reveal whether she has a chromosomal deletion. I'm not sure why it's upset too much, maybe because it takes me back to the really dark days when she was being tested for neuroprogressive disorders. Maybe it's the reminder that she may have inherited a disorder from dh or I, and whilst that wouldn't be our fault I still but can't help feeling guilty.

I think discussing recurrence rates just made me feel crappola again. Having been given 1 in 10 chance of recurrence last time, we had a revised recurrence rate of 1 in 20. Whilst this is essentially good news I can't help but focus on the 'what ifs' again. I know ultimately that if there is a deletion somewhere on one of dd's chromosomes then it's a perfect mistake , but I still feel sad that it's happened and we son't have any answers.

Sorry, someone please come and talk some sense into me.

you sound like you're having a really tough time.

i don't know what to say, we were given dd1's diagnosis as she was fighting for her life in icu so to me it was the last thing on my mind at the time, i just wanted her better and to be able to hold her again.

if she has got a chromosone problem it's still hard not to blame yourself. when we found out we didn't carry digeorge ourselfs i blamed myself for drinking when i was about 5 weeks pg as i didn't know i was pg but i kept thinking it was because of that

i really hope you find some answers soon, it must be so hard for you.

Sorry you had such a rough time. We've not had so many genetics appointments - not sure why, really, as despite assorted diagnoses DD1 still not "explained" to the doctors' satisfaction .

DD1's metabolic consultant once told me that the average person is a carrier for 6 genetic disorders - it's just there are so many different ones that it's rare two people carrying the same disorder have a child together. I don't know if deletions are inherited in the same way, but still the point is - everyone's DNA is equally dodgy. It's just the luck of the draw decides which of us find out about it.

Thanks guys - sorry for having had a moan. I think it's just been such a long time since we've seen a geneticist that it really hit me from nowhere this week.

That's really interesting r3dh3d. One of the (many) disorders mooted in the past for dd was a cholesterol synthesis disorder for which 1 in 31 of us are carriers . Means 1 child in every school class carries the recessive gene. I do find genetics fascinating, I just wish my interest could be more academic.

Fio, I've CATed you

fiofio- that's not right- if your dd is taking part in a research project you should give informed consent (so should know exactly what they are doing) AND have the right to withdraw at any time.

I think genetics appts sound particularly hard as they seem to go round in circles.

when I said "that's not right" I meant that's not how they should have done it btw, not that that's not what happened. Confusing myself now, but you could complain about that. Did you get given an information sheet with contact numbers? Ring up and hassle the researcher for information!

Fio - want to echo what gess said. I know when they wanted dd1 for a research project - we were given lots of info etc about who was doing it, what they hoped to achieve, what it would involve and there was no way they could do anything to or with dd1 without BOTH signatures of dh and I.

chonky - sorry you had a tough appt. I sometimes think we ( or that should read me) goes along and you deal with life day to day and for us - down syndrome is our reality and it is second nature iyswim - then appts like this come up and it is a smack and a reminder that dd1 has DOWN SYNDROME - that is really clumsy but I hope you can see what I mean.

I can also empathise with the guilt - I know that dd1's ds is nothing to do with dh and I but you still feel guilty.