DS genetic testing

[wejammin]

DS (age 6) has been referred for genetic testing. When he was a baby the hospital found he had iris cysts (flocculi) and this can sometimes be linked to a heart condition that causes early heart failure.

We've got a first appointment tomorrow with the genetics teams, by video call. The lady who booked us in didn't know if DS had to be there or not. I don't know who the appointment is with, I feel a bit thrown by the whole thing.

Can anyone who's been through this say what happens at the first appointment?

Also for the actual test, I assume it's a blood test, is it a finger prick or a full blood test? I can't see that being easy for a 6 year old.

When my ds first had genetic testing, he was there and the geneticist spoke to us and made observations of ds, taking note of things like facial features, size, head circumference and unusual features. She also took photos (as it was in person). We then had a meeting with a genetics nurse who took a very extensive family history and questions about ds's development.
He then had a series of blood tests, which were full blood tests, rather than finger pricks.
Good luck to you and your ds. X

@HazeyjaneIII thank you! Was the geneticist appointment and the nurse on the same day?

How did your DS manage with blood tests? My DD had to have one for a coeliac test when she was 5 and it was horrendous, she was hysterical, so I think I'm a bit traumatised by the thought!

It was quite a while ago (ds is 14 and his first genetic tests were when he was 3!!).. but as I remember it, the nurse was separate to the meeting with the geneticist.
Ds had to have quite a lot of blood tests for separate conditions, and to be completely honest it wasn't great... they tried him with the numbing Emla cream, which is applied about an hour before the test, but as he has a lot of sensorybissues, he found this almost as traumatic as the needle!! Some people have more success with a spray (which ds also hated!) If you do try the cream, you should be able to get a prescription for it yourself so you can apply it at home before the blood test, to save any further waiting around (something else ds struggles with!)

Normally, these things are face to face to assess your son, ask questions etc. Maybe this is just an initial chat, to then ascertain things prior to a face to face. Ridiculous that the person booking you in didn't even know if your son needs to be there or not etc. I'd mention that to who ever dials in tomorrow about the lack of info.

In terms of blood tests, majority (if not all) karyotyping blood tests would be in the vein and not a finger prick (to my knowledge). In kids though, its normal to use emla cream beforehand, which is a local anaesthetic which numbs the skin. It needs to be left on at least 30min, ideally 60mins before the test. Bloods are 'generally' done at a paediatric phlebotomy clinic, and not necessarily with the consultant on the day. Its something to ask about though.

Any reason they have waited 6yrs to do the tests if this was noticed when he was a baby?

Thanks both, will ask for the emla cream!

@Darkclothes, after he was born we had to wait 12 months to see the consultant eye specialist, then they had to review my eyes and DHs eyes but by then it was COVID so he had no appointments until 2022, then we were both checked (all clear) and we were referred in 2023, it's taken this long to get the appointment!
I guess it's not priority because it doesn't affect his vision?

We were requested to bring DD with us. The nurse only measured her height and weight and then we had a discussion with the genetics doctor going through DDs developmental history and family history. Also took photos of all three of us together.

In our case the blood tests were done on the day. As soon as I realised this I asked for the numbing cream to be applied (they had it available) so that by the time the main appointment was over we didn’t have to wait long. The numbing cream has worked really well for DD. We have had 2 blood tests and the first one she didn’t even notice as we managed to distract her with the tablet while they were taking the blood. DD is 2.5 so a bit younger than your child.