Anyone got a child with a very rare / unknown genetic condition?

[SinkGirl]

Had a call with consultant geneticist today about DT2. He has a several separate diagnoses and has been having tests of all kinds since he was about a year old (he’s 4 now). His genome was sequenced as part of a study, and he’s had a battery of genetic and metabolic tests.

So far they’ve turned up nothing at all. Speaking to the geneticist today there’s a couple more panels to run on his genome and an imprinting test, but if those turn up nothing then they think he probably has a genetic syndrome that’s not yet known about.

They seem extremely sure that there must be something, which surprises me (my personal experience with doctors is if they can’t find anything obvious they stop looking quite quickly!). But I guess it would be very unlikely to have these several seemingly unrelated conditions without some kind of underlying issue?

She said that they may want to do a research project on his genome in the future - I guess to try to find something different rather than comparing it to panels but I have no idea what that would mean.

Just wondering if anyone has been through this, whether you ever got an answer or whether it’s still unknown? The idea that he may have something genetic going on that’s completely unknown is worrying - I’m still hoping they find something known.

@supercatlady It's interesting how children with syndromes can look alike whilst still having characteristics of their parents. DH once spotted another child with the same syndrome as our DD in a shop in a town in another county. It's a relatively rare syndrome so you'd have to be living it to recognise it. We actually took part in some research where they were trying to set up a database so they diagnose certain syndromes using 3D photo images of the face of a child (the whole family had to have 3D images taken as well as the affected child). It was quite facinating.

We have twins too, one of whom has a rare genetic condition and autism. The autism seems to be a feature of the condition as others also have it but it’s not ‘classic’ autism. I never felt comfortable that it was just autism and eventually chromosome analysis revealed a deletion and that led to a diagnosis. Having a name for ‘it’ does help, you definitely feel less alone, but the treatment and support she receives is the same regarding her education , medical care etc. Genetic studies are great to be involved in as they turn up new things all the time. We had no answers for years and it felt amazing to finally get some answers. Hopefully you’ll get some too.

@supercatlady

My son is 26 and has a rare chromosome disorder identified through CGH array at age 13. He was tested for all and sundry when small, then this died off, but every now and again I would find something and email the geneticist. They had bloods stored so they’d just send it off. Once diagnosed, we knew to check heart and kidneys (which were fine). We also found a small group of families that had also been diagnosed. The children (and adults) have a lot of similarities but also are very different too and the numbers are growing and diagnosis can now be made pre-natally.

Their physical features are so alike it’s uncanny!

We’re in a Facebook group for my daughter’s syndrome - there are kids from countries all around the world who are the spit of my daughter! It’s spooky and lovely!

Thank you @Anselve that’s so nice of you to say. I’m doing my best and constantly feel like it’s not enough but that’s all we can do really.

@gluenotsoup that must be really difficult - can they at least proactively monitor for those risk factors now that they know they are there?

@StrongTea4Me I’m sure you would be welcome in those groups - many parents will have been where you are regardless of whether they eventually get a diagnosis or not. I know how awful it is having no answers and feeling like there’s something new every time you see a doctor or have a test. It does get easier - I am far calmer about the future now, but when they were 18 months to 2 I was an absolute wreck.

It is fascinating how a child can have these features and look alike but then also look like parents. DT2 was on a medication from birth to 18 months that significantly changes appearance and he looked more like the other kids on that medication than his twin brother! Once he came off it everything changed - hair colour, shape of his face etc.

He does have some characteristics they have picked up on - slightly sloping eyelids, slightly flat ends to his fingers etc. I’ve noticed recently that he has vertical creases down his cheeks when he smiles and I’ve never seen anyone with that, but who know whether this is markers for something or just his features. He looks so much like us though.

My son also has a rare chromosome disorder it was picked up by a microarray when he was three ,it presents as severe autism and learning disabilities ,there are a wide range of conditions associated with his disorder and some people are not affected at all and some severly so .

Have you had a FSH test OP? Our DD went undiagnosed for three years before a FSH test picked up her rare chromo disorder.

Unique is an excellent and very helpful charity for children with rare chromo disorders and their families.

The worst part is not knowing - once you know it cuts down the ran he of things to agonise about and you can just get on with it.

Good luck. You will be ok. You will be amazed how strong you actually are. X

I think the imprinting test they were talking about today is FISH testing (at least FISH testing seems to be used to diagnose conditions related to imprinting) but I will check next time I speak to them.

Now I’ve looked it up, I don’t think they will find anything. I expect they want to rule out Prader Willi Syndrome and BWS due to his Hyperinsulinism/ Ketotic hypoglycaemia but I know quite a few kids with those conditions through hyperinsulinism groups and it doesn’t seem to fit. The geneticist did say today that he didn’t seem to fit the conditions this testing checks for but does fit some aspects of some so it’s worth doing it to check. I don’t know - I am way out of my depth with all this stuff and just trying to get my head round it all.