Caroline5

[fio2]

Caroline we have received a letter this morning about a sudy they are doing at the University of Wales College Of Medicine on Retts syndrome and related disorders. We have been asked if our dd would take part. I was just wondering whether you had received one too? I dont really know what this means for us and our dd infact I was quite shocked. We havent actually been told that its Retts but now I just dont know TBH honest I feel physically sick. Our paed did phone us up to tell us about the study but he told us it was about learning difficulties not Retts.

Sorry everyone else I feel like all ever do is come on here to moan.

[Caroline5]

Fio, what a shock for you - no, we haven't had a letter like that. Did your doctor put dd forward for it then? From what you wrote before, your dd doesn't sound like she has Retts, she's made lots of progress hasn't she, whereas I thought girls with Retts regressed?? Perhaps you could phone your paed next week and ask him more questions about this study? What a worry for you. Plus Wales isn't very near you, so it wouldn't exactly be convenient when you're moving as well.

You're not moaning at all BTW! Hugs{}

[tamum]

Fio2, nothing you have said about your daughter makes it sound as though she has Rett syndrome. This sounds like a breakdown in communication somewhere between your paediatrician and the study people. If they are going to keep mentioning Rett then why on earth don't they do the test? Now the gene has been cloned it's direct and not complicated, and it would put your mind at rest. I know you've been worrying about them mentioning it before, but I don't understand why they don't just do the test and reassure you. Please try not to worry (impossible, I know). Hugs for you and your dd.

[fio2]

They have done the test that is why I cannot understand why they keep going on about it. When we were first reffered the HV had put on her notes that her speech had regressed-it didnt. The paed never asked me whether she had regressed or not so I didnt know it had been wrote down until the PT told me. She has just had genral slow development. Her hypermobility hasnt helped her gross motor skills at all-infact the orthapeadic surgeon was suprised if not shocked that she had managed to walk at all. She can sign really well now which I am pressuming a girl with REtts wouldnt be able to do with the loss of hand control and all that. I am not down about it by the way just a bit confused- my mum read the letter and thinks I have blown it out of proportion. I think maybe the related disorders bit on the letter is intended for us. Sorry for going on ladies

[fio2]

Caroline I will post to you tommorrow I have just been really busy this weekend-hope that your all ok

[mieow]

My friends little girl has Retts and no, she can't sign, can't stand, can't speak, well the only thing she can do it sit up. She is lovely though