Does anyone have a child with Rett syndrome, or know anyone with it?

[Wispabarsareback]

We are still trying to get to the bottom of what lies behind all DD2's problems. She's 19 months old and has global developmental delay. We've been waiting since 1 December for an MRI scan of her brain - the neurologist says CP is a possibility, but he also mentioned Rett syndrome. The plan is to do a test for Rett at the same time as the MRI. The wait is killing us.

In the meantime, DD2's problems seem to be getting worse, and she ticks a lot of the boxes for Rett syndrome - head stopped growing at about 8 months, stopped being able to do things she had started (eg clapping), problems with chewing and swallowing, constant weird motions with her hands, etc. Her motor skills are very poor - no transitional movements, can't crawl, stand or walk. She doesn't talk; she isn't responsive much of the time; and she doesn't always pay attention to things or make eye contact.

I'd be really interested to hear about anyone else's experience of Rett syndrome, and how you come to terms with having a child with this condition. I don't have time to add more right now as I have to go and pick up DDs, but I'll come back to this later. Thanks in advance for any insights.

Sorry no info as DD doesn't have Retts, but welcome to the SN board.
Hopefully the MRI scan will give you the answers

We also don't have a name for DD's condition. It is hard to not know what the future holds, but there is lots of support here.

Thanks for your replies. FioFio it's interesting to hear about your daughter. In some ways it would be a relief to have a name put to whatever is causing DD2 to be the way she is - I know it wouldn't necessarily help, as she'll still get the same services, presumably, that she gets now (well, mostly we're on numerous waiting lists for services, but I live in hope!) - but it would help me, I think, to know what I might be able to expect of her and to understand WHY so many things just aren't right.

I have of course googled Rett syndrome to death, and it's hard not to feel overwhelmed with fear and despair. Back in December when it was first suggested as a possibility DD2 ticked some of the boxes, but by no means all. Now, several months on, she ticks a lot more of them - which would I guess fit with the way the condition develops.

For me, the hardest aspect of life with DD2 is the way she seems so miserable, so much of the time. I can cope with her not moving, talking or playing; I can even cope (on good days) with the endless feeding problems; but I find it very hard to cope with the miserable crying. I found myself saying crossly to DH the other day (look away now if easily shocked - v sorry), 'Why can't she be a HAPPY retard?' Sorry - I'm so often not up to the task of being the sort of mother she needs. Which makes me feel terrible. I just can't get past feeling that if only I was better at providing the right kind of stimulation, if I was more patient and gentle with her, that she would manage to do more - or would at least be happier. Feeling responsible for another person's misery is, I realise, the most horrible feeling in the world.

Sorry for all that. Believe it or not I loathe self-pity, but the last few weeks I've been drowning in it. We will find a way through, I'm sure.

another 2 year screamer here. (eventual cp dx but initially gdd) as riven says, it is very common. we tried cranial osteo which helped a little, but tbh time improved the misery no end. the first two years are honestly the worst. dd2 had lots of feeding problems, which for me was the worst thing, as trying to feed her made her scream more... we only got our cp dx at 23 months btw. can i ask just hand movements or other movements which might be 'athetoidy'? (that's our physio's word for some of dd2's oddities - and sometimes the athetoid bits aren't really noticeable until later - it's only in hindsight that some of dd's movements were obviously little hints towards this?)
we also had portage and lots of therapists along the way - dd2 is doing v well now at 5.

my friend's 9 yo dd has retts though. it is a common test, and often tests come back negative... hope your MRI comes through soon x

Thanks so much for your sympathetic replies - they are so appreciated. (I didn't manage to get on MN yesterday so have only just found them.) It's good to know that DD2 isn't alone in her misery! And she isn't always miserable - in fact yesterday she had a pretty good day and was quite smiley and responsive.

And thanks for your suggestions. We're on a waiting list for portage - we were referred in January and they said the wait for an assessment might be six months! I will chase it up though and see how things look. DD2 is having regular physio and hydrotherapy, and as of yesterday now has a SALT, who seems fab. We have been awarded DLA on the middle rate, which helps. No carers' allowance, though, because I work part-time. DD2 goes to nursery three days a week, which saves what remains of my sanity. The carers' assessment is definitely worth bearing in mind - it's one of those things I know about in theory but hadn't thought of actually asking for, so thanks Riven for mentioning it.

Hi, partners daughter has Rett Syndrome, I have known her since before she was diagnosed, she is 4 just now. Have you had a diagnosis yet?

ihatecbeebies - this thread is 2 years old.

Thanks Littlefish....Maybe I should have looked at the YEAR rather than just the month!

Hi wispa my dd has retts she is 12 and was diagnosed by blood tests the day after her 2nd birthday.Really feel for you going through this we really hoped and prayed that it wouldn't be retts but it was and we are still here fighting for her and she is soo beautifull and a right cheeky monkey-has no speach but you can tell when she is being cheeky.We went through six diagnosis to get to retts so i know how hard it is.Hang in there and look after yourself.Anything you want to know there is plenty of help on here.x