Does anyone have any experience of or knowledge about Rett Syndrome?

[NancyJones]

Hi,
DD is 10.5mths. She is my 4th with 3 older brothers. I have been concerned for about a month and finally went to the GP on Friday who has referred me to a paed but according to her, 'just to put my mind at ease about RS and to see what else could be the issue.'
When I google the symptoms, rett comes up but I'm not sure if I'm fixating on it through fear or whether I'm right to be concerned.
Symptoms: reduced eye contact over the last 6wks or so. But main worry is she seems to have less grip with her hands. She has started to regularly drop things handed to her. She also seems to want us to feed her more rather than pick up with fingers. She seems to copy less especially hitting buttons etc. oh and she's gone from pulling herself up to reaching things and crying to be stood up against them. She also seems to be babbling less- not actually less but less of a range of sounds if that makes sense.

GP said a couple of things indicate that it's not RS. Firstly, drs now believe that contrary to previously thought, symptoms do show in infants. But GP said the 3 most common are hypotonia, decrease in head circumference and extreme passivity. None of these fit dd and in fact her head was 25th c at birth, 50th at 6mths and when she measured it on Friday, it was between 50th and 75th (weight has moved up in line with HC).

So, does the hand thing still warrant investigation for RS? GP said they may not want to test for it straight away as she's not yet 1yr. Should I argue for it? If it seems unlikely to be RS, what else could cause these symptoms. Thanks for reading.

Bump

She sounds a bit like my dd, increasing head on charts (though rest slowed). Her development when on to be quite non-linear, temporary regression even. She's only two so not real outcomes, other than a bit of delay becoming apparent. She once stopped crawling upstairs for 4 months, has done the eating thing a few times, big clumsy stages.

Not saying your dd is the same, but hopefully it's some relief when worrying about reft.

nancy I wish I could just wave a magic-wand-of-comfort for you.

I can say that wonderful though google is, it will tend to give you the big headline diagnoses, and not the many shades of diagnoses up to those.

When my joints started to swell up we looked on the internet and the only thing that fitted was rheumatoid arthritis. Turned out to be a viral arthritis which went with time, and the symptoms were controlled by steroids! All that panic and worry for a virus. It certainly took a while to get to that conclusion, and the stress of facing a future with a crumbling frame probably slowed the recovery.

My friend who is a paed nurse says that kids go downhill more quickly than adults but also bounce back more quickly.

Maybe if you can help dc find ways of concentrating the things she enjoys just the same as before - maybe music, or messy play with hands - that may help her and you until the system sorts out what is going on.

Good Luck

Thank you, WhichWayWound and senvet. Really appreciate you taking the time to read my longer than intended op.
I feel quite sick with worry. She was a surprise late baby, I never thought I'd have a daughter and now I'm worrying about a syndrome which almost exclusively affects girls.
I don't know how soon to expect the paed app to come through and I don't know if they'll agree to test for RS or whether they'll have any alternative suggestions. I am not sleeping and wondering how I would cope. We have no family and DH works away frequently often out the country.
There is definitely something going on with minor delays and what appears to me like a regression of some sort. Maybe I'm off the mark but it doesn't seem autistic like. She is very interested in people and constantly putting her arms up to be picked up. Always very excited to see us. Having said all that her receptive language is nowhere near what the boys had. She knows 'where's mummy, daddy, brothers' but nothing else.
Oh I just don't know. It's ridiculous but I can't shake the feeling that something is just a bit 'off' if that makes sense.

Try not to worry enjoy her and the little things she brings to your life.

I have worked with children and adults with Retts they have all had a fulfilling life, and enjoyed everyday things we all like.

Not even saying she has Retts however there's LOADS of support if needed, take good care yourselves. Sending hugs

As it says in a movie 'it is a mother's right to worry' - we can't help it, it comes with the job.

But when I was stressed I was told to go for 'displacemet acticity' something that takes your mind off your troubles -

It does help whether it is reading, sudoku, painting, music fun with the kids.

Fingers and toes crossed for the next days and for some answers eventually.

Good Luck

Just wanted to say that we have our appointment through for next month. I will try to update after we've seen the paed.

Hi Nancy,my daughter has Rett syndrome. I'm on my way to work but I didn't want to read and run. You can pm me and if you've got any I'll try to answer them.

Any questions- I meant

Thank you do much, Kerge. I will pm you in the morning.