Clinical geneticist?

[Tor]

Hi all,

Had a phone call today from the paed to say she had got the records from various people and is concerned about a few things and wants to send DS1 to a clinical geneticist to see if he has any kind of syndrome.

What do they do there? I have no idea what to expect so if anyone can tell me their experiences that would be great.

 

[kit10grl]

DD was looked over by a geneticist when she was very young (during ward rounds which parents weren't allowed to be present for) They looked at her hands, feet ears and a few other things. They also took blood to test for various things. We didn't see them again until DD had been diagnosed genetically by the lab testing her blood.

Once she was diagnosed the geneticist came back to gather some family/pregnancy history details from myself and my husband. He also took a few pictures of DD's typical syndrome features. Her ears are quite typical of her syndrome. Most of this is just for his own records and not to be used anywhere unless later discussed with us.

He also talked through how her genetic mutation occurred, what our chances of this were, and what the chances of us having another baby with the same condition would be if we had another child.

He was a very nice man. He assured us we could contact him if we had questions later. We have since a few times as we took part in a research project and had a few questions we couldn't answer and he was lovely about it. He didn't have all the answers so went back to the lab to find them for us.

Another family we know had a pretty similar experience when their child was diagnosed also.

 

[Tor]

Thanks ever so much for getting back to me, from having the appointment and bloods taken how long did it take for the results to come back?

I'm literally driving myself crazy now, I just want it all over and done with and hopefully no problems found but the more im googling im convincing myself he has some kind of syndrome.

 

[kit10grl]

I'm not 100% sure when they bloods were taken as DD had a LOT going on so I was only dealing in 'what affects her today' terms for the first few months. But it was definitely drawn within the first month of life, so september. The results were returned to the hospital who took the bloods mid November. We had been transferred elsewhere by then so it took another MONTH after the results were returned for them to inform us of what was found. (Yes I have complained about this).

Its so frustrating waiting for these things to happen. All I can say is while we were worried about what it meant once we actually had a diagnosis it became much easier for us. We could then find support groups etc. In the mean time I know of a group called SWAN (Syndromes without a name) which might be able to offer you some support. Pretty sure they will have a facebook group or something similar where you could talk to others feeling the same way you are.

 

[Jo_Bean]

We've had a lot of tests done on our daughter. They took varying times to come back.

We have a pre-appointment call on the phone with the clinical geneticist on Friday 13th September. So I can let you know what happens if you like.

I expect them to cover old ground and the tests that have been done, then discuss new ones.

So far all Olivia's tests have been blood tests or urine tests. Not sure what's next.