Hello. New here *waves*

[Woooozle100]

My DD is 17 months and has rare chromo disorder (UBT). GDD, hypotonia, hatred of bright light / sunshine & needing v strong glasses are the main things now. After quite a rocky start (apnoea, fit, pneumonia, GERD, UTI's) she seems to be doing great health wise. Touch wood.

Just wanted to introduce meself and say hello before rattling off loads of questions!

hi nice to "meet you
my dd is 11 and has cp
i have had loads of help on here

Hi and welcome
I've got a nearly 4 yr old dd with Noonan Syndrome, she also has had major development delays, speech delay, most of which she has kind of outgrown now (touch wood)
also has hatred of bright lights/loud noise and has truly horrendous eyesight and is getting her 3rd prescription for even better glasses tomorrow!(we hope)
Welcome and fire away
Jane aka Piff

Message withdrawn

Just a quick hello from me, welcome to MN

Hi and welcome.
token aussie here

4yo dd with down syndrome and repaired heart defect

almost2yo dd

baby no3 ( and last!) due Mar07.

hi and welcome to MN
we have ds who is 5 and is ASD and goes to a SN school and is doing fab there, we are expecting our 2nd baby in may so havent spent much time on MN for a while due to sleeping non stop and being sick

Lots of welcome, hope you enjoy1

I have twin girls aged 5, one with SN

Oooh hello all. That's a lot of replies! Feel in good company here

Welcome to MN.

I have 2 boys with autism (3yrs & 6yrs) and a 6mth-old girl.

Hi ejb, i have 3 DD's , youngest is nearly 6 and has down's and autism. She goes to a great special school. Also an apparent slight hearing loss, but hears the word "biscuit" and the "friends" theme music at 20 paces!

sorry - ubt abbreviation for unbalanced translocation. I have a balanced tranlocation which means two bits of different chromosome have swapped over - but there is no loss or gain of genetic material so it has not caused any problems for me - only in terms of reproduction. My DD has an unbalanced form meaning that she has inherited just one of the affected chromosomes. She has a duplication of genetic material on 14q and a loss of material on 5p (the extra 14 is stuck where the rest of 5 should be) The 5p- is commonly referred to as cri du chat syndrome. Only my DD doesn't have the critical region for this syndrome missing (only the very tip of 5p is deleted) so doesn't display much of CDCS; our geneticists think most of her problems are due to the extra 14q.

Ooh went on a bit there! All quite complicated and ultimately as a diagnosis it doesn't mean a fat lot as we don't really have much of an idea of what to expect. Though I suppose most things are like that anyway - even with well understood / more frequently occurring syndromes there is a broad spectrum of possible problems. It is impossible to say from the outset to what degree someone will be affected. So you just wait and see... just like any child really.

Hi ejb. I have 4 boys. My youngest is 15 months and has an undiagnosed condition with hypotonia and GDD. He has made progress recently and can now sit unsupported and he has started to feed himself finger foods without too much gagging. We too are waiting for results of genetic testing.

haha - DD does that selective hearing / interest thing loads. Funny how biscuit always gets a response

Sometimes I feel as though hospital staff think I must be a bit deluded - like, poor woman hasn't quite come to terms with her daughter's problems and exagerates her abilities! At the 6th stab at a hearing assesment, I was talking about how I have no concerns with her hearing and she responds very well to sound and music, only for her then to respond to absolutely nothing. I was asked if she was able to move her head (!)

Me to the physio - ooh, she's doing great on her tummy now.. she's pushing herself up and looks like she wants to crawl. All whilst DD sniffs the floor and shows no sign of ever raising her head. Hey ho!

OOh FioFio and Megalegs - the genetics thing is an abs minefield. OK, some pretty impressive microscopic technologies available but if they don't have an idea where to start looking its all rather needle / haystack. Megalegs - hope the tests yield something. I stand by my other post that a diagnosis doesn't really make much difference practically but it does help to at least know. Do sympathise there FioFio - do you and your doctors believe yr DD to have some kind of genetic / chromosome problem?

Piffle - that sounds really encouraging that your DD has outgrown most of her probs / issues. I'd be really interested to hear more about her.

Fiofio - I often wonder about ds4's birth, well imparticular the last week of my pg with him. My other three were all vaginal deliveries at term. no probs, straight forward labours all hunkydory. At 38 weeks with DS4 I had severe stomach pains. Was admitted as he was a transverse/unstable lie. Spent the hottest most uncomfortable week in hospital, listening to conflicting advice from several mw and docs. I was monitored everyday and his heart rate was never below 150, sometimes getting up to 200 bpm. I questioned this everytime, was he in distress? Why was his heartrate so high? Noone seemed worried and I asked for a cs everyday. Finally delivered by cs at 39+6. No obvious probs but I noticed his lack of tone and the fact that he kept getting his arms stuck behind his head. Anyway - now I think maybe the hospital did cock up - where do I start - I guess we need some kind of dx first.

No Fiofio - not yet - he has just been referred for more tests and to see a muscle specialist so things are happening, albeit rather slowly. Thanks for the advice - I'll give it a try.