Not a diagnosis, but feel like we're in a different place for now...

[hazeyjane]

We have just been told that Dr Kleefstra wants permission for ds to be part of a study including children who have strong clinical features of Kleefstra Syndrome, but who have had a negative gene test.

After our inconclusive test results last week and the feeling of being in limbo land, this feels like progress. It is not an answer to why ds has the issues he has or a diagnosis, but hopefully being part of this study, means that something is happening.

We are going to be sent details of what the study requires, what is involved and what the research is looking into. We will also have a meeting (at some point in the future!) with the geneticist at John Radcliffe.

Dh can't see why it is a big deal to me, and I'm not even sure myself, but I feel in a better place than I was before the phonecall, and I'm sure that you lovely, fierce, carrot wielding honking geese will understand!

[hazeyjane]

By the way, i wonder if mnhq would give us our own, goose holding a carrot in it's beak emoticon?!

[EllenJaneisstillnotmyname]

That sounds really interesting! Anyone that wants to study and spend time on your DS must be good.

[honk] [carrot]

[Lougle]

Oh how exciting!

[MedusaIsHavingABadHairDay]

The genetics team at the JR are fab.. really interested and really thorough, even if you don't get exact answers! (we didn't either .. a chromosome abnormality was found but it didn't 'explain' DS2)

Exciting stuff!

[coff33pot]

That is exciting and very interesting too. You will have to keep us posted on the ins and outs as we are nosey like that

HONK HONK CARROT!

[NoHaudinMaWheest]

Even though this is well outside my experience I can understand why it makes you feel better.

Honk.

[SallyBear]

Hazeyjane that is great news. It can take ages to get the results of these studies though. We are still waiting for one that we were submitted for in Germany, three years ago! Which reminds me I need to ring the Churchill and chase them up!

I do understand your need to identify it though. We are still stuck with a clinical dx 13 years on, I wanted to know where it is to spare DD from having to put any children that she has the pain and agony that she went through. My DH still doesn't get it either. Men!

[hazeyjane]

Thankyou all.

I know that when if I tell anyone in rl, they will give me that smile and pat that means they don't understand a word I'm saying, but at least i look like it is a good thing, so they will give me the proper response!

Looking at other studies that have been done by the kleefstra team I can see they take forever, and of course it might be that ds hasn't got kleefstra and then we will be back to square one! But it feels important that he is part of it, and, naively maybe I think it may make it easier when people ask what his diagnosis is, esp wrt statementing and dla etc.

But also the times when people ask me what is wrong with ds, and I come out with the following rubbish,

'well he probably has a genetic condition, global developmental delay...well that sort of means he is delayed in everything....well yes I know they often do catch up, but obviously for some children the delay is more significant....oh really, your uncle didn't speak until he was 5....and now he runs British gas, wow thats amazing....oh yes ds, well he has dysmorphic features...what does dysmorphic mean?, well - head explodes......etcetcetcetc'

(this is better than dh's response that usually involves x-men and special powers)

[NoHaudinMaWheest]

Oh hazey and I thought explaining two reasonably well known conditions was hard!

[SallyBear]

I love your DH's explanation. I get stuck with what is Treacher Collins Syndrome, trying to explain the looks and the hearing, then I get stuck with explaining the non verbal ASD and why isn't it linked to the other condition. Because it isn't and you can have more than one confition that don't need to be co-morbid. Why can't he talk is that because he is deaf, yes and has ASD and also has Developmental Delay on account of the ASD and the deafness which is connected to the Treacher Collins. Will he ever talk? I don't fucking know!!!! Phew. I think that I'll stick with he's an Avenger with Super Hero skills.

[whatthewhatthebleep]

carrot wielding goosey HONK HONK!!!

[hazeyjane]

Yes, maybe dh has got the right idea, 'don't tell anyone, but ds is actually an x-man, his super powers are being floppy, drooling a lot,communicating through grunting,and being exceptionally cute'

I'm not sure how the DLA form would go, 'how many minutes of the day, does your super power cause you to need help...'

[DameMargotFountain]

honk honk honk!!

have got lots of carrots too, will hold one in my beak while i listen to you hazey and promise not to ask any daft questions.

the fact he's to be part of a study is brilliant, it means they are looking for answers, not brushing him off as a problem.

at DLA section on superpowers - does your DC need any extra help putting on their jet pack a) some days b) most days c) everyday

[hazeyjane]

Thankyou Justa, you have summed up how I feel in one succinct sentence (as opposed to my paragraphs of waffle!)

[used2bthin]

hazey, I came on to pm you and saw this, that is great news and does seem like progress. We are part of the ddd study or will be when I can get dd to spit or let me put the swab in her mouth and that gives me some hope of answers some day so a specific condition is even clearer.

I hate the explanation bit too and like you sallybear have to explain she has a genetic condition but the learning difficulties/GDD/SLI whatever it is is not to do with the genetic condition but both affect her severely in their own way. I confuse myself! I often get asked will she grow out of it-wish Iknew (for the learning disability-probably not and just I wish for the genetic one!

[Sneezecakesmama]

In my nursey days I read that people on medical studies do better than those who are not. Think it is to with close monitoring picking up early warning signs so I would always opt to be on a study.

[hazeyjane]

That is good to know, sneezecake.

The only thing I am worrying about is that originally ds was going to go into the DDD study, if his gene test came back clear, but the geneticist thinks it is more worthwhile that he be included in the Kleefstra study, as that is the condition that he bears most resemblance to (well not him , but his issues IYSWIM!) and he would only be able to be part of one study not the other.