Jimams, can I pick your brains about mitochondrial stuff?

[silverfrog]

dd2 appears to have some weird stuff going on with her organic acid levels.

She has been (technically) FTT since she was tiny (just not growing - all milestones, etc ok) so have been under care of paed.

As a routine line of enquiry (after cystic fibrosis and general heart stuff ruled out; no coeliac test done as she is already gf/cf) she had bloods and urine done to check metabolic stuff (technical term ) and the results came back with an anomaly. Repeat tests have been done, and we are awaiting results.

After much arguing with paed, who didn't want to tell me anything, I have found out that ehr 3-hydroxyglutaric acid levels are raised. The most obvious problems associated with this (acyl canitine deficiency, apparently) do not fit dd2 at all - she is fine and healthy, apart from not putting on much weight.

We are about to get a referral for private - is there anyone you know who we should try to see?

obviously, with dd1 autistic, and dd2 presenting with an odd metabolic profile, we would lie to talk to someone in the know...

I have several strange moles too, which crust over periodically. Had them checked by a friend who's a GP - she described them as 'senile warts' (caused much hilarity at the time). DS1 is becoming very moley as he gets older and has several strawberry birthmarks, which we were told would disappear, but haven't. DS2 hasn't, but he does have blue-ish pigmentation just above his buttocks.

Is this connected with what you're talking about do you think?

DS2's head goes up to the left, his neck sort of extends, arms stiffen. He always sits in the same chair & he seems to spend half his life staring up in to the corner of the room.
He certainly is doing it less often, i'm not sure if we are able to distract him or after calling him several times & waiting for a reaction he is coming out of it himself anyway IYKWIM.

The reason i don't think it can be seizure is because it only happens when he is sitting down, surely seizures would not be that clever.

Because he has mild CP its difficult to judge normal movements when he is walking around.

DS2'S birthmark that became infected just sort of collapsed on itself after the infection, crusted over & then healed up, there is just some slight scarring & strange hair follicle growth there now.

DS2 has never had any form of dietry or digestive testing as everything has been blamed on his prem birth but he is 5 now & his digestive system seems to be more screwed up teh older he gets.
I think i need to get to the bottom of it but don't know were to start.
TBH just at the moment i don't know how we would find the money for private tests but also don't know enough about what we need to ask the GP for the most appropriate tests.

As for his movements, i will discuss with the neuro & see what turns up on his EEG.
Despite obvious brain damage of some description he has never seen a neuro or had MRI or EEG so ould eb interested to get their opinion.

Hmm that sounds vaguely familiar anon. I'll get the video done this weekend. DS1's also only happen when sitting down (or lying down). Never when standing, although he sometimes has a slightly different leg crossing type movements then.

I wonder sphil.

I have found another article saying that every child with a learning disability (or more to the point mental retardation) should be checked carefully for signs of neurocutaneous disorders. But of course that never happens!

Would be interested to see that video JJ, wonder if there are simularities.

Shall be looking up neurocutaneous disorders, apart from anything else it will be the longest word i've ever googled

DS2 also has very specific movements associated with his OCD but i think it is very habitual rather than involuntary.

Gosh I'm finding out interesting things today. DS1 was off for 2 days this week with a migraine/cyclic vomiting. Since then has been up, wide awake until midnight each night. Apparently migraine is associated with low melatonin levels.......

And the bugger is I can't find the melatonin anywhere....

Gosh I'm finding out interesting things today. DS1 was off for 2 days this week with a migraine/cyclic vomiting. Since then has been up, wide awake until midnight each night. Apparently migraine is associated with low melatonin levels.......

And the bugger is I can't find the melatonin anywhere....

OMG Jimjams, my ds has cafe au lait spots too. I've been really worried about them to be honest. He is dx Aspergers and dyspraxia and has about four or five cafe au lait marks - and he's very small for his age - 2nd centile while I and and dh are tall, dh unusually so. I've finally got a paed to take his height seriously and he is being monitored. He's had an X-ray to check bone age, no results yet, and is being seen in six months. I didn't mention the cafe au lait spots, at least partly because they really scare me. He also has a sensitive stomach and is sick much more frequently than most children, and reacts drastically to artificial colours etc.

ds2 is big for his age despite being only 2lb11oz at birth he is the tallest boy in his class, he is not fat but certainly well built,despite having very little muscle tone/definition. Both DH & I are average height.