Here some suggested organisations that offer expert advice on SN.
Chromosome disorder thread(87 Posts)
I'm told there's no dedicated chromosome disorder thread so I thought I'd start one!
I know some people (myself included) won't want to state the specific disorder that our DC is affected by as some are so rare it would 'out' us, but I think a lot of the effects of chromosome disorders are quite similar.
My DD (3.5 months) has a very rare disorder. She seems to have quite a few of the more minor physical effects and none of the serious ones thank goodness. As for the learning difficulties, time will tell.
We are in the process of joining Unique etc and have had her exact karotype matched.
So come and chat about your DC, how you felt when they were diagnosed, what services you've found useful, any particular groups etc.
stillslightlycrumpled, hi there. i am presuming you meant 22q11?. my son is 9 now also and after years of various hospital appts we have managed to narrow it down to a handful of check ups each year! however, on the school side of things he is slowly falling further and further behind the other children in his class (currently mainstream at the mo)
Confused my Grand children were diagnosed (pre adoption) foetal alcohol syndrome were classic. Were re diagnosed chromosome disorder's for adoption, will both need lifetime support.
county yes, sorry I do mean 22q11 .
He was diagnosed when he was four, it was a relief to know what was wrong as he was tested for so many life limiting illnesses that this seemed a bit less scary.
Not bad here at the moment although winter & DS2 are not a good mix, though apart from scheduled surgery, he has avoided any hospital admissions .
Just bumping this to see how everyone is doing.
Bluechick is nearly 1 and doing well in some ways and less well in others. We now receive DLA and carers allowance which helps.
I have mainly good days now but still get a fair sprinkling of days where I can't believe what has happened and want to rage at the world. When does this feeling go away?
blue - I have to be honest with you... it doesn't. It will recede into the shadows, sometimes for a very long time, but with life events, or transitions, or just for the hell of it, it'll come flying back.
We are struggling with a few of the "harsh" reminders right now, I try to look beyond it and feel confident that we will come through - after all, we have before - but for the "now", it stinks.
Some time ago, I wrote a couple of blog posts around these ideas - dealing with the grief and reality , trying to wrap your head around change and optimism/pessimism and realism. I know this is a lot of reading (and don't expect you to read it) but I thought I would share the perspective of someone who has been doing this a little longer.
In the meantime, here's some . I am sure it is 5 o'clock somewhere...
Hi there, I haven't been on here for months and I pop in and here's this thread :-)
My little dude is now 18 months and we are right in the middle of statementing so he can start special school nursery next jan when he is 2. The reports are crap to read (profound and multiple learning difficulties- ouch) but Ive gone beyond letting it get to me, he is a healthy happy little dude and on his own journey and if its different to everyone else's we will deal with it, and anyone that can't deal with it can get stuffed to put it politely !!!!
Dont get me wrong we still have good and bad days, heck I do with my older 2 but we are getting there.
My biggest stress is work currently as they are being pigs not letting me take unpaid leave over school holidays and trying to find childcare for a son like mine just doesn't seem to exist so how the hell do we cope for 6 weeks every summer ????
Hope everyone and their little uns are doing well xxx
Hello - thought I would jump in and join you all if that is ok.
We received DD1s official diagnosis of Kabuki Syndrome this week - we were expecting it but it was still somehow a shock. She is doing really well but has up and down days... BeeMom I'm off to read your blog posts, even the titles resonate.
We're just starting statementing now too can'tbelieve - dd is 2.9. We're looking round schools at the moment. I am on maternity leave at the moment with our 6 month old ds (who seems very healthy) but have decided to leave work rather than go back - I just can't see any other way of keeping up with all dd's appointments!
I have a friend in the US who has a son with Kabuki. I understand there is a very good support group online for families who are dealing with a KS diagnosis.
I hope some of my writing is helpful for you. I don't write on that blog a lot now - life kind of got in the way somehow. In fact - the most recent post is nearly a year old. I really should update it, but where to even begin?
The best (but quite cliche) advice I was ever given and pass on often, is remember that this journey is a marathon. If you approach it as a sprint, you'll exhaust yourself. You are in it for the long haul, and when you think you can't do it, give yourself permission to crack a bit, then get out the glue, mend the crack, and keep on going.
Thanks beemom. I have found a couple of great facebook grps. That is good advice too - I am rather inclined to face most things as a sprint so will remember that one.
Quickly popping in to say hello.
Good to read your post, can'tbelieve, I remember your posts earlier when you had just received a diagnosis, it is good to hear how your ds is getting on, and hear you sounding so positive.
We are going through a good phase with ds - after a bloody awful and prolonged bout of pneumonia and worries over oxygen levels. His chest problems are under investigation at John Radcliffe so hopefully we will get some answers there.
He has started preschool with a full time 1-1 (and me there too) and is getting on ok, albeit with teeny tiny steps. He has also just started with a GoTalk communication device, which he loves, hopefully it will be the start of him learning how to use a communication app as he gets older, as he has made no progress at all with verbal speech.
We are seeing his geneticist on Friday, it is a new one, so should be interesting, although we have had no word back from the Kleefstra syndrome study that he is part of.
Hope everyone has a good day
Just giving this a bump.
We saw the geneticist, she was fantastic, really easy to talk to and seemed engaged and interested in ds.
She wants to test ds for a couple of other syndromes, alongside the Kleefstra study. She wants to look at the X chromosome, and syndromes to do with macrocephaly. She is also going to put him forward for the DDD study. Fortunately they can use samples they already have rather than taking any more blood.
Hope everyone is doing well.
This week is the first ever international Rare Chromosome Awareness Week 2-8 June.
We want to tell the world what rare chromosome disorders are, how they affect our families and how Unique can help.
Throughout the week we will be sharing messages by email, press, Facebook and twitter, through work places, schools and hospitals.
Lots of families are also sharing pictures of their children via Facebook, Twitter, Flickr etc. to celebrate Awareness Week.
The aim is for greater understanding and support for families affected by the many challenges rare chromosome disorders bring. We also want to create a better understanding of the great love and joy we feel for our children and adults with rare chromosome disorders and the strength we gain from other parents and families like ours.
If you would like to support the work of Unique in helping families through diagnosis, linking them to similar families, publishing our guides to individual chromosome disorders and raising awareness through events like this week, please consider making a donation. Please visit www.rarechromo.org/html/DonateNow.asp to donate online. You can donate in various currencies, including Pounds Sterling, US Dollars and Euros.
If you are in the UK, you can now also donate by text message direct from your mobile.
Just text UNIQ11 plus the amount you wish to donate up to a maximum of £10 to 70070. So, to donate £10 you need to type UNIQ11 £10 and text it to 70070. Remember to leave a space between UNIQ11 and £10.
Best wishes from all of us at Unique.
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