We've got a diagnosis for DD2 - it's Rett syndrome

[Wispabarsareback]

Hello all,

I've posted before about my complex little DD2, who is 22 months old and developmentally delayed, with all sorts of odd problems.

Rett syndrome was suggested as a possibility about six months ago, and over the last few months she has ticked more and more of the boxes. We've now had it confirmed by a neurologist who specialises in Rett syndrome that this is indeed what she has. It wasn't a shock - more of a relief, to be honest, that the uncertainty that has plagued us is now over. Now it feels like our job is to get on with making DD2's life as happy as possible, helping her achieve as much as we can, and above all just being a normal family. We'd been through the grief, shock, etc before the diagnosis came, and I do feel - although there are up days and down days (and up and down moments within the same day!) - that we are coming to terms and beginning to think positively about the future.

Just thought I'd share - and of course if anyone has experience of a little girl with Rett, please please tell me about it. I'm sure I'll have plenty more to say in the weeks and months ahead - my hands are sometimes too full to keep up much with MN, but I really value the support on this board.

hello wispa, I don't know anything about retts syndrome big (non mn) hugs for the dx.

No exp. but {{hugs}}
Brio
x

i know a little girl with Retts who's about 8. She's mostly non-verbal and attends special school - and loves the tv lol

at least the dx has been confirmed now, which will help with opening any doors that have remained closed thus far. sending you a little bit more strength just in case of any unanticipated wobbles with the news xx

Glad you finally have a dx. xx

Hope the dx helps you to get her the help she needs x

Thanks for all your replies.

Madwoman - the TV thing is funny - DD2 loves TV, and gets more animated in front of the screen than with any of her toys! She also likes music and water. But she's not much interested in toys (can't use her hands very well). One positive aspect of her condition is that she's quite sociable and affectionate, and enjoys being around people, and loves being cuddled.

Wispa,
No experience at all, but I am glad you finally have the diagnosis.

During my daydreams of diagnosis and/or prognosis for my DS, I often feel that knowing would give us permission (IYKWIM?) to get on with our lives. Its like 'well, this is it, we know (roughly) whats in store (even if its really crap), so lets get on with it' rather than watching and waiting to see what the hell is going to happen next!

Lots of love and luck to you and DD. I'm sure you'll do a wonderful job of making her life very happy x

Thanks feelingbetter. I feel exactly as you describe - the diagnosis helps us move on a bit from the relentless whirl of anxiety and uncertainty. We've suspected it was Rett syndrome for a few months, and even though it seemed like a devastatingly awful thing when I first found out about it, I'd got to the point where I feared no diagnosis at all more than I feared confirmation of Retts.

I also feel like I've been given permission to stop blaming myself - it's a faulty gene, nothing anyone could have done about it, it's not because of something I did when I was pregnant, not because I've failed to provide enough stimulation, not because I didn't make her spend time on her tummy as a young baby when she hated it, not because I weaned her early (!!) etc etc. I know that's not rational, but I found it impossible not to feel completely rubbish that I couldn't make DD behave like a 'normal' baby.

Feelingbetter - are you likely to get a diagnosis for your DS? Do you have any theories yourself about what's up?

Well, my theory is that it was the crappy birth and negligent medical care - or that it was entirley my fault - depends what mood I'm in!

There is no doubt he had hypoglycaemia (has the brain damage to prove it), but it was assumed early on that the hypoglycaemia caused him to start fitting. Now they are thinking that he may have already been fitting, which caused the hypoglycaemia. They are also keen to investigate whether or not there is something congenital (and rare) which predisposed him.

My gut feeling is that all tests and investigations will prove nothing and we will never know

Feelingbetter, DD2 had loads of chromosomal tests etc which came back negative - I too despaired of ever finding out 'the answer'. So maybe you still will - I hope so.

In my short experience of being a parent of a SN child, I've found that the most exhausting and emotionally draining aspect (so far) is the endless pushing you have to do to make things happen - tests, therapy, etc etc. Because DD has a complex medical history, my concerns about her development weren't really addressed until quite recently. I had to take matters into my own hands - the neurologist who saw DD2 suggested Retts but showed no urgency at all about investigating further, and wouldn't communicate with us outside clinic appointments (rare!). So I did some research to find a neurologist who specialised in Retts, pestered our paediatrician within an inch of her life until she produced a referral for us (largely drafted by me!), and am glad I did - I'd begun to feel like I was going mad. But I wish I hadn't had to.

There are some conditions that can't always be 'proved' through tests - so perhaps you'll get a clinical diagnosis at some point. Fingers crossed for you.