Update - this doesn't sound good, does it.

[fanjoforthemammaries7850]

Had a phone call today from consultant's secretary. Straight away I could tell it wasn't great, she had her "bad news" voice on..

Background - DD (3.7) had major regression of speech at 2.10, has always had issues with muscle tone, balance, motor skills.

So she had MRI and genetic testing and EEG/brain stem tests in March as they suspected metabolic illness/Landau Kleffner/atypical Rett syndrome (although she presents with ASD).

Anyway the secretary said both the neurology Dr and the autism professor want to meet us TOGETHER next tuesday.

I asked if I should bring DD, and said if it was something upsetting I didn't want her there..she said "that is what I am wondering, i am trying to ask the professor".

She also said "they have lots of information".

I asked if we could find anything out before Tuesday as we are basically worried sick and she said she would get the Professor to call me tomorrow "to lay the foundations".

It doesn't sound good, does it.

Am a mess.

Would be better if, when we were at the hospital, DH hadn't helpfully pointed out the secret PS the professor had written to the neurologist saying they wanted to test for Rett as well, obviously they didn't want to worry us, and he blithely showed me.

Fanmjo hope all is - no0t OK, but copeable.

You know where I am if you need me (CAT)

Peachy X

Hey Fanjo,
You ok?

Am OK thanks, just got home, went for dinner on way home.

Was reassuring, all the tests were normal. It's amazing her brain MRI was so normal when she cannot speak!

One of the neurologists was obviously still suspecting Rett syndrome even today, from what she was saying to the other one, but he told her TODAY that the test was negative (so I am wondering why she assured me on Friday that there was nothing hugely worrying about today - very irresponsible!!!). They were avoiding naming it and trying to be cryptic but I know my medical stuff. Phew, that was my worst fear!

The MRI was normal, the EEGs were normal, the metabolic tests were normal.

It's all puzzling.

They are now going to do muscle tests, as she has definite pronounced muscle weakness. They suspect treatable conditions such as myasthenia though (interestingly I have symptoms of this), or maybe a channelopathy.

They also said obviously she had some ASD traits but is not at all typical, so they won't rule that out. I do agree, if you took away her difficulties with her muscles she still definitely could/would have ASD, she doesn't interact and has sensory issues.

As the neurologist said today though "they have ruled out the very nasty stuff".

The muscle tests won't be very nice but they have to be done if it shows she has something that can be treated.

The ASD specialist is also going to visit her at nursery.

So she might get an ASD diagnosis yet, as her issues are clearer at nursery.

She did say she'd be unlucky to have both but I suppose it could happen.

Will sleep more easily now though.

Thanks so much for all your support and caring. {smile]

I mean (not even had the wine yet!!!)

Fanjo hooray for the good news, and sorry for the return to limbo land.

Enjoy that wine

so glad to hear everything normal -ish, you must feel lke a weight has been lifted.

Hell forget one bottle have 2

Thanks all!!

Hope your day wasn't too bad, roundthebend!

Hey Fanjo, SOOO pleased that it was nothing serious. Sad for you that you are left hanging but, well, there are worse things than ASD and you look to have ruled out quite a few of them .
Enjoy the wine!!

So glad the day went as it did for you.
another one here also that your back in limbo... But you've passed one big nasty worrying bit.

Hope you and dh have a lovely hug later and a great evening.

I've just got my internet access back after four days without and had to come and find out how you got on. So relieved on your behalf but also sorry that there are still questions marks and tests to go through.

Having read through most of this thread all together I think it should be printed off and given to every medical student as a good example of bad practice and putting people through ridiculous amounts of unnecessary stress. I am really disgusted that they did this to you.

My feelings are not helped by having been told today that I will have an answer on AS diagnosis for my DD1 by Thursday and feeling frustrated by being left to stew. That's bad enough but nothing in comparison with you've just been put through Fanjo.

Thanks everyone...not much time to rest, got loads on for rest of week. Am so tired and unwell with cough and cold today, going to crawl into bed.

Got appt with sleep counsellors tomorrow, just cannot be bothered but have been on waiting list for ages.

Am glad for you and DD Fanjo

She woudl be unlucky to have both but in no way unsuaul:I know a great many children with very complex DX's that include ASD. Ins ome ways ASD is a huige bounus over a random collection of symptoms thougha s at least there are support systems and charities in palce to help.

Thanks.

I think she does have both, maybe, however, as she understands and can communicate more, she is showing the traits less. So I am not sure if maybe she is retreating into herself because she can't communicate.

Being honest if they instantly took away her muscle weakness you would have a lovely little girl with ASD at the moment.

But yes, there are worse things to have (as we have learned the hard way) and we would cope.

I'm so glad all that worry about the potential badness of what you could hear, yesterday, did prove unfounded, Fanjo. Frustrating that you're still left wondering what's going on, all the same.

Thanks..yes, head is spinning, before all this an ASD diagnosis seemed terrible and upsetting, so going back to it doesn't really seem like that much of a reprieve.