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What happens at a genetics appointment?

(14 Posts)
HHH3 Thu 14-Apr-16 19:31:51

Following his latest appt at the CDC, DS2 has been referred to genetics. It isn't til June (a lot quicker than I was expecting) but I have absolutely no idea what to expect. Can anyone give me any idea what might happen at a first genetics appt please?

whatamess0815 Thu 14-Apr-16 20:26:25

they rang us before to take a detailed family history (parents, grandparents, cousins, cousins children) to see if anything runs in the family (not in our case). at the appointment, we talked through DC's difficulties. Doc checked DC over, I think mainly looking for physical markers (e.g. hand fold, low set ears, epicanthic eye fold) but DC had none. They took some photos and then offered microarray testing. we agreed and they took some blood from DC. and we went back many months later once they had the results

Kanga59 Thu 14-Apr-16 20:36:54

What is CDC?

its difficult to advise as I don't know anything about the background. but the geneticist may explain the routes to diagnosis and the different samples they may need (blood, skin, muscle)

or they may explain how the genetic issue was inherited and therefore your options for future unaffected children. and options for testing existing children

hazeyjane Thu 14-Apr-16 20:48:22

CDC (child development centre?)

A genetics nurse rang and asked a raft of questions about family history.
At appointment more questions asked about ds's difficulties
Physical check and photos taken
Micro array had already been done and come back clear so secondary and specific test were done and we had a discussion about studies that ds could be in loved in (the main one running at the moment is called the 100,000 genome study - it basically requires samples from the child and parents and these are then subject to the latest genetic tests and compared to all the other tests in the study)

We have been under genetics for 5 years and ds still has no diagnosis so, if there are no quick answers don't be disheartened.

HHH3 Thu 14-Apr-16 21:15:41

Sorry - yes, CDC is child development centre.

It's interesting that some people have been phoned before the appt. I was told that if get a letter 3-4 weeks before the appt but that's it as far as I know.

With family history, does anyone know if it causes problems if you don't know very much? I suspect it might be quite difficult to get any information from his dad's side.

I'm not expecting any answers yet - not for a long time, if at all. I know this is the start of a probably very long road.

hazeyjane Thu 14-Apr-16 21:54:20

I had similar, HHH, I am estranged from my dad and his vast family, but knew that there was a lot of mental health issues so mentioned those. I just explained the difficulty and gave them what I could.

If there are no answers but the geneticist still thinks there is a genetic cause, then SWAN UK have some good resources and a forum for parents of children with undiagnosed genetic conditions.

HHH3 Thu 14-Apr-16 22:05:53

Thanks hazey. DS's dad passed away when he was a baby and I have v v little contact with his family. If there are questions then I'll of course contact them but they might well not reply.

Thank-you for the link - I'll definitely use that if needed. The paed said that she thinks there's something genetic but also said that nothing specific comes to mind. So we start down this road, which I know will probably be a long one. It's scary because after over 3 years of saying that something's going on with him and being completely dismissed, all of a sudden things are happening. But it's the right thing to do.

Buntingsmum Fri 15-Apr-16 17:17:41

Only thing to add is that I have a similar situation for my dad. They didn't ask for me to push into contacting that side of the family (who we don't have contact with now) at all, just noted it. They also offered to look into my dads historical health records if we wanted that because his cause of death was quite vague from me. I didn't want that but it was interesting that they could.
I've found geneticist to be really lovely Drs. Very good at listening and also at thinking about the whole picture. They haven't found any answers for us though - but I know that they are trying to!

HHH3 Fri 15-Apr-16 18:26:06

Thank-you Buntingsmum that's really helpful. And interesting to know that they might be able to look into his health records. I'll definitely keep that in mind.

whatamess0815 Fri 15-Apr-16 18:47:58

oh and after we got a very rare genetic dx, we were basically discharged. usually (if the child's issues are mainly developmental rather than physical), a genetic dx is only informative (I.e. you you know the underlying cause and it may guide your decisions re future children) but that is it.

HHH3 Fri 15-Apr-16 19:04:56

I know whatamess. I'm not really expecting anything other than answers/explanation if I get anything at all.

Branleuse Fri 15-Apr-16 19:06:50

just a chat, family history and they took a blood test from ds1.
If that comes back with anything, theyll look at the rest of us

Shesinfashion Fri 15-Apr-16 22:20:32

Our paed suggested during the course of our first appointment regarding our generally delayed 3 year old DD that a genetic screen was recommended. We agreed to it. DD had blood tests and we found out the results (by letter) about a month later that the screening was NAD, nothing abnormal detected.

eskimomama Sun 17-Apr-16 15:04:06

We had a geneticist appt for DD (ASD), 4 years after dx. The guy was one hour late which caused a very much unnecessary meltdown but very nice.
When we spoke of migraines, he was immediately interested, unlike all the other doctors/pediatric neurologists we have seen before. He wanted both parents to be checked for homocysteine and MTHFR mutations.
As well as the usual ASD panel.

Haven't got around to getting the blood test done as DD detests them very much, but I'm told results take over 6 months and might not show anything or lead to treatment, so we'll see.
A friend of mine whose son has dyspraxia had told me he'd be checking us out for "physical aspects" and I was expecting lots of intruding questions but he was very friendly and entirely focused on genetics only.

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