Genetics

[hatchypom]

We've been referred for genetic testing as we have 2 children with the same disorder, just wondering what will happen in our appointment/s

Hi. I can only speak from my experience at a Genetic appointment.

When I went to the Genetic Clinic with my DCs I was asked a lot of questions. The main one being was I related to my (now) ex-P. I don't know how to phrase this correctly so I'll just say if you and DH are cousins/related, it brings up a big red flag to a geneticist. I hope nobody takes offence at that.

The Consultant asked for a lot of family history, so it may be worth noting down names, ages and any problems with members of your or your partners family. Including nieces, nephews, Uncles, Aunts, Dads family, Mums family.

We had a muscle biopsy done which is a very long a complicated story that I won't bore you with, and it didn't give us a diagnosis anyway.

Feel free to PM me.

Try not to worry too much. I guess it will be mostly a history taking kind of appointment and then they will move on from there.

I hope this helps.

much the same as everypicture. When we saw the geneticist with dd3 she wanted a very detailed family history, including things that were unrelated to dd's issues, a full developmental hisory for her and details of the pregnancy. From that, she ordered blood tests for a micro array, a skin biopsy and an MRI as well as taking a few photos. We came away with a dx but still don't know exactly which bit of which chromosome is affected. It's worth having a look at unique if you haven't already.

Wow thank you for the link I clearly know nothing !!!! It never ceases to amaze me what bits of the world you know nothing about until it happens to you. My ds2 and dd are both deaf and our specialist think it's an unusual genetic mutation that at present they can only do the tests in the states so we'll find out more soon enough.

I would also like to say thank you to ninja for the link. I have never seen it before.

Hi Hatchy, we also had genetic testing for DS. In his case, they knew already what the dx was but did the testing to find out exactly which bit of the chromosome in question was affected. It took about 3 months for the blood results to come back. They then took bloods from DH and me, to see if we were carrying the same mutation, or if it was a new (sporadic) mutation in DS. This has important implications if you want to have any more children, and if your DS2's and DD's deafness is from an inherited cause.

Because DS is our only child, and because we were thinking of having more, we were put in touch with a genetic counsellor, who talked through the risks and issues with us and explained it all very clearly. It was very useful to have numbers put onto these relative risks, and to have it explained in context (e.g. there may be a 10% - or whatever - risk of having another child with the same condition, but the risk of having a child with any genetic birth defect is 2%, so you can't necessarily guarantee that a pregnancy won't be affected by something). She also talked to us about antenatal testing and choices if I did become pregnant again. It's worth bearing in mind that the genetic counsellor is just there to give you information, and not to advise you about any particular course of action - we kept wanting her to tell us what to do, but that's not her job!

my dd3 is (amongst other things) deaf too hatchy

if you're on fb there's a support group called 'SWAN UK (Syndromes Without A Name)' run by the genetic alliance.