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Hello Brave New Topic!!

(14 Posts)
hazeyjane Fri 06-May-16 10:32:13


I am quite excited about this new topic, although I hope it leads to people spreading themselves about the SN boards, where there are some fantastic posters, amazing support and a lot of kick arse posters who have a wealth of support.

There is also the lovely, friendly and welcoming SN Pub, on the SN Chat board - it starts up roughly every Friday, and has a name with Goose or Carrot (or both) in the name - Goose because, geese are wonderful, formation flying birds who team up to help each other out like the posters on these boards....and Carrot, because we have most of us suffered a professional giving shit advice like, 'have you tried feeding him carrot sticks?' for a child with feeding and swallowing difficulties (I hope I have got those descriptors right!)

I have a nearly 6 year old ds, who is part of the DDD study, and a study into a condition called Kleefstra Syndrome (that he has characteristics of). He is an amazing clever, non verbal wonder of a boy who has a constellation of issues (his paed's words!) physical, emotional, developmental and behavioural. He has had MRI scans, and blood tests, and biopsies and god knows what else, but he has no diagnosis.

There are times when his lack of a diagnosis doesn't matter - he has an EHCP with high level funding, he is in a Complex Needs Resource Base in a MS school, he has a barrage of professionals, he gets DLA.

But there are times when it can be scary and bewildering and frustrating.....when we in the hospital at 4 in the morning with suspected seizures.....when they decide to do a heart scan because of the possible link to a genetic condition, and discover that, yes, he does have a hole in his heart that was missed at birth.....when the Ed Psych recommends that he go into MS because he, 'has no diagnosable condition, and his overriding problem is with his expressive speech'

It would be lovely to hear from some other posters who are going through similar tests, and fears and frustrations and interminable waiting times.......and see you not just here but all over the boards. smile

misdee Sat 07-May-16 22:52:40

Hello smile

hazeyjane Sun 08-May-16 06:16:02


I thought it might just be me and the tumbleweed!

Have there been any answers for your lovely dd? How is the feeding going?

dimples76 Mon 09-May-16 23:10:53


My son is almost three, he's v small and has GDD. He has previously had micro-array testing and has been specifically tested for a couple of named syndromes but no underlying cause detected so far. We have a Genetics referral later this month.

Sometimes I wonder if I'm kidding myself about his development as he seems to be able to do so much more when it's just the two of us compared to reports from nursery, Ed Psych and Portage Worker - I always wonder if they think I'm in denial (I do recognise the areas of delay and want to get as much support as possible for him) but I feel that they underestimate him.

Part of me is v scared of getting a diagnosis - does anyone else feel like this?

Zampa Wed 08-Jun-16 19:02:00

I'm also very excited about this topic and hoping to learn something, share concerns and experiences and give some support to others.

My DD was born 7 weeks early and suffered grade iv bleeds throughout her brain. We were told she had craniosynostosis (although this doesn't seem to be the case now) and additional cranio-facial abnormalities. An MRI at 4 days old led doctors to tell us that the brain damage caused by the bleeds was so severe, she would only have brain stem function. This has proved incorrect but her development is very delayed and the brain damage has resulted in epilepsy.

Her chromosomes are all fine and there are genetic tests ongoing. The first genetic test is looking at only a few specific genes which match her symptoms. If this doesn't produce results, we're lined up for a full exome test. Hoping to hear back on the first test in the next month or so.

Dimples For me, a diagnosis couldn't come soon enough. First and foremost, to establish whether DD could benefit from additional help. Secondly, I do want more children so keen to establish whether the causes of her GDD are genetic and if so, if the issue was inherited or a one off.

What scares you?

Hazey What's a DDD study?

dimples76 Wed 08-Jun-16 22:21:53

Hi Zampa

I think I got my head around not having a diagnosis and was fully focused on having his needs met and aiming high. It was a bit of a shock to be told that they might be able to find the reason. I think what scares me about having a diagnosis is that it maybe if he has a named syndrome that changes my hopes/expectations e.g.where it's stated that people with that syndrome typically have an IQ between 30-50. Sorry I don't think I'm explaining myself very well - I'm exhausted!

I think it's the most normal feeling in the world to want a diagnosis - especially when you want more children (that's less of an issue for me as I adopted my son).

The DDD is a genetic research study but I think it is closed to new candidates. Have you come across the 100,000 Genome Project - that might be worth investigating further

Zampa Wed 08-Jun-16 22:58:35

I understand the feeling of uncertainty surrounding a diagnosis. Is it be better to know the troubles ahead? I'm desperate to know what the future might hold for my daughter but also petrified of finding out something I'd rather not know.

Our geneticist didn't seem too enamoured with the 100,000 genome project ...

dimples76 Fri 10-Jun-16 20:25:10

Did they say why Zampa?

I don't think my son is likely to be allowed to participate in the study any way (as their preference is to have samples from both bio parents). His Geneticist did say that you need to think long and hard about whether or not to take part as you may learn other things such as pre-disposition to cancer that you may not want to know.

Feeling v happy today as my boy had an echo cardiogram and is heart looks absolutely fine - at least that's one thing to stop worrying about.

Zampa Sat 11-Jun-16 22:11:18

Fabulous news about the ECG. That must be a relief.

Our doctor didn't criticise the project but I got the impression that she thought that it's been missold to parents.

HHH3 Sat 11-Jun-16 22:25:07

Hello! Can I join in please?

DS2 is 3.6 and had his first genetics appt this week. The geneticist spent a long time examining him and picked up lots of things (some I already knew, some I didn't). She said she had a couple of disorders in mind but wants to speak to colleagues. She's going to call to tell me what they think within the next 2 weeks. He's having bloods taken in just over a week so then they'll start being able to rule things in/out.

I have to admit I'm having a big wobble. I've been saying since he was born that there's something different about him. And have been saying that I think it's something genetic for ages. And I've had to fight hard to be taken seriously and get to this point. But I think that in the back of my mind there's always been a little voice saying 'but maybe I'm wrong'.

At the appt the geneticist said that I'd done absolutely the right thing to take him...she was basically saying she thinks there's something genetic. So now I can't pretend I might be wrong!

I have to keep reminding myself that knowing or not knowing won't change DS. But knowing may mean being better able to support him and get things in place for him.

Sorry - that was a bit long! It's all a bit scary right now.

dimples76 Sat 11-Jun-16 23:04:42

Welcome HHH3

It must be a worrying time. As you say whatever the outcome of the Genetic testing he is still your DS and it does not change who he is but might make you better informed about what support he might need.

Did she tell you what they are testing for? I guess not Whatever you do try and stay away from Google if you can! My DS was tested for Prader-Willi syndrome and I was totally freaking out over what I read about that online but the tests were negative. As my DS's Portage Worker said even if they are diagnosed with a condition/syndrome it does not mean that they necessarily experience all of the potential problems associated with the syndrome - she gave the example of the children with Down's Syndrome she works with some of whom have serious heart and ear defects others of whom have no real health problems

HHH3 Sun 12-Jun-16 10:05:50

No, she said she had a couple of things in mind but didn't say what. I have to admit I've spent a fair amount of time on Google (really need to stop it) putting in different things about DS to try and work out what it could be. But so far I haven't come up with anything he really fits. Won't be long til I get the phonecall though.

Rockclimbingtigger Mon 19-Sep-16 09:56:37

Hi all smile

My son Joshua was born at 2) weeks but has a whole host of other issues. He has a severe speech and language delay but only expressive, developmental delay, central apneas amongst many others.

We're in the 100K project and he's being tested by genetics although so far he's something of an enigma.

Lovely to meet you all!!

Rockclimbingtigger Mon 19-Sep-16 10:03:50

26 weeks obviously. Stupid iPhone.

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