Mitochondrial disease

[fanjoforthemammaries7850]

Saw neuro today about DD (at last, she lost her speaking ability and other things last August ).

He said he strongly suspects a mitochondrial disorder. He said she has some autistic traits but he wouldn't say she has ASD.

Anyway from what I have read having a mitochondrial disorder is never good news. I suppose i should be prepared for that given that she has deteriorated a lot in only a year but it's still quite hard to hear.

We were told before she had ASD but now it seems like a whole different ball game.

Does anyone have any knowledge/experience?

She is to have an MRI and lumbar puncture under GA next month.

hi fanjo, no experience sorry but am sure someone will come along soon. Hope all is well with you.

Thanks, its as well as can be while still not knowing and still having wrecked shoulder

oh dear. You look after yourself. At least everything is going in the right direction

I hope you are OK?
There is a little bit about mitochondrial disorders in the latest copy (34)of the Autism File in the article 'What is Autism?' I know very little about it too.

not really that OK but just have to be I suppose!!

Sending virtual cup of tea and hug.
I think MrsT posted on mito disorder recently. It always takes a while to reorientate. How old is your dd? ( sorry my memory is awful).

Thanks. Just been speaking to my mum and aunty about it (they help me look after DD), my mum was very understanding but my Aunty just goes on and on at me about how i should be trying hard to "fix" DD etc.

DD is 3.4

Don't have any knowledge or experience, but just wanted post that I'm sorry you've had this news.

Hi Fanjo, my dd2 has a mitochondrial disorder, but there are so many that it may be totally different from your dd.
Hers was diagnosed after Lactic acid readings from lumbar puncture. MRI was inconclusive (even though she has severe learning difficulties).

Are you being referred to a specialist mitochondrial team ? There are some in Sheffield, Birmingham and GOSH as far as I know, and there are probably others.

Contact a Family may be able to link you with another family with the same diagnosis once you have more info.

CLIMB www.climb.org.uk/here may be of help too.

Hope you get the answers (and help) you need!

Thanks.

Not at the moment, the neurologist here in Edinburgh is doing the MRI and lumbar puncture, I suppose he might refer us on if we don't get any answers from those tests.

I'm from near Edinburgh originally! Might meet-up one day when I'm visiting family?

Best of luck with the scans - do you know which particular Mitochondrial diseases they are trying to rule in/out?

That would be great.

I have no idea, I don't think they know either so are just starting with general tests.

DS1 is being considered as having one potentially but as an ASD trigger.

There's a lot of work being done at Kennedy Krieger on mitochondrial cytopathies and when I wrote to one of their research scientists I got an incredibly helpful reply back. I know there's quite a bit going on at GOSH as well.

Thanks both of you, I will look up both of these places!

I have no idea which they suspect at all, all they said was it obviously wasn't one of the awful ones which affect babies from birth causing them to deteriorate very quickly, but we knew that already of course.

I'm not sure if they suspect any in particular yet, if they are they are not saying.

Because they don't want you to google!