First appointment with gentetics

[Tubbytimmy]

with dd 6yo who currently has a diagnosis of adhd but has a few other goings on. What will happen at the appointment?.

The letter asks that both dh and I attend, will we possibly need to give dna samples?.

Thank you in advance for any responses.

I don't think you will have to give a sample on the day. We was assesed by the genetasist and asked questions etc. kids get their arms numbed for the blood tests

The first genetics appointment that we had with ds, involved taking a complete family history (any history of learning disabilities, ASD, mental health issues), a complete birth history, and looking at and discussing any and all relevant issues with regards to ds - this included any physical traits and involved taking photos of ds, in our case. Blood tests were arranged for a different time.

Oh yes, I must say that ds had already had his DNA test before we ever saw a genetasist, I am recalling the first time we saw them, we needed siblings tested. Our ds was tested, found to have a issue and then we was tested all before we clapped eyes on a genetasist

Thank you for answering.

Dd has Dna stored but at a different hospital. Would we be given any ideas to what if any genetic conditions that they think dd might have?

If the have done a array then yes, you might be told. In our case we are unique. There is no name as you need a certain number of people with the same condition for it to be syndrome.

In our case we have answers but no answers as they just don't know if the symptoms are related to our duplication

Ds's DNA bloods have been used at several hospitals so they may be able to use that sample.

Usually initial tests are for 'easy' to test for and rule out, syndromes, like Fragile X. Sometimes a specific syndrome is suggested by clinical history and appearance, and this can be specifically tested for, sometimes a wider net has to be thrown. The trouble is there are many, many syndromes, mosaicisms of syndromes, and many, as yet, undiscovered genetic conditions - so it can be difficult to suggest conditions unless there is something very obvious.

Many children (and adults) remain undiagnosed, even though it is almost certainly a genetic issue, this is because the science hasn't caught up yet and new syndromes are being discovered all the time as testing becomes more refined. undiagnosed.org.uk/

There are studies at the moment looking into genetic causes of developmental disorders www.ddduk.org/ The DDD study being the largest.

Both of the websites linked to have quite a lot of info about genetic testing.

I don't know if it is the same everywhere, but ds has a specialist genetics nurse as well as a geneticist - if you get one, ask for their email address, as they are great for answering questions.

Thank you both.

Can I ask were there physical features pointed out at the appointment that maybe you hadn't noticed to be something yourself?.

Neurodisability seem to be focused on ds being very tall and slender for her age as well she has a patch of cafe au lait spots. I have notice some other things that may or may not be something relevant. Sorry for lots of questions I haven't anyone in rl to ask.

Thanks again

They did with ds, they pointed out several things that seemed quite normal to me! I pointed out some things I felt silly for mentioning because they seemed so tiny, but they did turn out to be genetic 'markers'. With ds they took photos of his feet and hands, face, and of him standing (he is very short) next to a height thing. They share these with other geneticists, as they will have come across other syndromes, and may spot similarities that another wouldn't.

Hmm, ds has a large head ( poor ds) and fetal finger pads. He has a sacral dimple too

It should also be remembered that some physical features on their own might mean nothing, but several together might suggest a particular syndrome. There are also some features which are common to many syndromes.

The words used to describe some features can sound a bit brutal. I remember thinking, 'stop describing Ds's face as dysmorphic, he is bloody gorgeous!'

It's hard to see your dc negatively isn't it, I asked the ed physc if he would list dd's good points as well as I feel I always have to talk negatively about what she can't do.

I really hope to get some idea about dd whilst it doesn't change anything a explanation would be a little helpful

I think the ep normally start off with some thing nice. The physical things being pointed out always feel a bit harsher. Like ds has massive head, it's just his lovely curls that make it look big ;o)

I never noticed his fingers, I think all the boys have it, they look for a minuscule detail so try not to take anything said like that to heart

Thank you 2boys, actually dd's head circumference is always on her notes, is that just protocol.

@2boysnamedR did you get an answer for this? My son has these 3 things too x

@Kris80Yes my sons have a micro duplication found in the micro array test. It’s relatively small at 25k and just a unique unnamed duplication

Thankyou for getting back to me. Can I ask what led you to get him checked out? Have they said you need to look out for any problems? I have just looked at my nephews hands and they both seem to have the finger tip pads as well ?

Well my older son has dyspraxia and and a language disorder and his little brother has ASD and a language disorder. Dyspraxia is quite common but it seemed more than just random bad luck to have two kids with quite significant SEN needs so the youngests paediatrician refered the youngest for the Micro Array. So it wasn’t anything physical ( apart from the sacral dimple) that worried me, it was the SEN needs and lack of language.

Ok Thankyou very much. I have never seen these finger pads before today and am so shocked I’ve never noticed, and when I read your post with the other 2 matching symptoms to my son it got me wondering. All the best to your family x