Here are some suggested organisations that offer expert advice on SN.
Jimams, can I pick your brains about mitochondrial stuff?(34 Posts)
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...
funny you should ask that, Fio - was talking to dh about it last night. I think they did a full blood run-down when she was first being assessed ( at not knowing, but there's been so many tests...)
I know they checked for Fragile X etc, so she had bloods done, but not sure what tests were run, iyswim. But we were saying last night that this prob means we should find out, and get it done if it hasn't been.
Oh good timing for me. This week ds1 had one of his bouts of what I think is cyclic vomiting syndrome. I've thought that since he was about 5. He also has these strange movements. Anyway quick search and it came back that for autistic children presenting with cyclic vomiting syndrome and with possible movement problems and especially those with 'mental retardation' - mitochondrial disorders should be ruled out. In America of course
Usually mt disorders cause very severe disability, but it looks as thought it may be possible that more mild cases can cause more of a range. And there's quite a bit of research now into autism and energy - and some research groups see it as an energy disorder. How much is speculation and how much is actually known I don't know.
I don't know much about it. I don't know who organises tests (I would ask the paed) but I do know the tests aren't very nice (need a muscle biopsy) so they tend not to do them without good reason.
I'm sending the paed some video of ds1's movements and she's going to show them to a neuro.
Sorry I haven't been much help!
oh bugger. paed not onside at all (hence wanting referral).
Very dismissive about it. dd2 not presenting as severely affected, therefore can't be anything wrong, etc, etc. Arguing with him didn't help the cause, but honestly, he was so infuriating.
He is also dismissive of anyhting we are doing autism-wise (wasn't dd1's paed) - very sneery re:gf/cf etc (has apparently now checked out Sunderland, and sees no reasn why we would follow the protocol).
will have a google and see if I can come up with anything, and will check what tests were run on dd1, too.
thanks, both of you, and hope you get some answers for your ds1, Jimjams.
Actually silverfrog if you do find someone who does this sort of stuff can you let me know. I may take ds1 to see them. I can't even get the local paeds to consider whether carnitine might help - which seems to be a fairly basic test they do a lot in the States now.
I will do a bit of a search later. If I find anything interesting will let you know.
energy and autism and the potential role of mitochondria was discussed quite a bit at IMFAR. Obviously not made it to the paeds yet .
My friend Derrick talks a little about it in his video
Google Derrick MacFabe Canada and you should get the video. If you click on the side links you can go straight to the bit about mitochondria. He has a good presenting style- easy to understand.
have got a gp appt for this pm, and our gp is usually quite helpful wrt to referrals, so will see who we can get to see (will ask about genetics too)
I might try to look up dd1's second paed (ridiculous community clinic system means she's never seen the same one twice) - he was very helpful and pro-active. Hopefully he's still about.
I think fio's idea is probably the best and something to do whilst you look around. You could try Treating Autism and ask on their forum whether anyone has used anyone for these sorts of tests.
- post has just come and my renewal for Treating Autism was in there, and a little lightbulb went on...
will have a hunt around the forums.
bugger again. Treating Autism website is being upgraded, can't find their forums... (but also being distracted by the girls)
Have sent them an emial to ask if they know of anyone.
OH MY GOD
Have done a search on mitochondria and autism and have come across a paper describing a child with severe autism, regressed at a year (just like ds1) with the same skin markings as ds1 has. Then a second paper (from a few months ago) describing a second case. Again - the same skin markings.
Am going to read properly then email the authors. Agh and meant to be working.....
Silverfrog - i can utterly empathise, and totally sympathise...
DS5's paed is completely dissmissive of DS5 with same sort of problems, he has FTT (2.5y, smidge under 22lbs) he also exhibits classic autism tendencies and symptoms, his Paed insists "hes a lovely chap, theres nothing wrong" although he is gorgeuous and has the most fantastic smile... he STILL has autism AND FTT why wont they listen???
He catagorically told me that he doesnt have a dairy intolerance, or gluten problem, which he SOOOOOOOOOOOOOOO does! unfortunately it only dawned on me 2 days ago that the constant diarrhea that hes had for 3mths now is probably due to the fact that he started on soya (to substitute milk ARRGH) 3mths ago! (i could kick myself, why has it taken me 3 mths to work this out???)
anyway sorry to ramble...
I just wanted to send hugs and sympathy, knowing what arses Paeds can be.
sorry you're having a hard time of it, misscutandstick.
In some ways, i can understand dd2's paed's reaction. dd2, other than being small, is absolutely fine, and NT so far as we can tell.
But, I wish he would not just dismiss me as a neurotic mother if I mention that the mitochondrial stuff might have other implications.
I am as aware as he is that dd2 is not severely affected, but I do wish he could be just a tiny bit less "well, i say it's not so it can't be" about the whole thing. He clearly is not an expert in this field (is happy to dismiss the weird rsult, as dd2 looks fine) but does not seem to want to help me findout what is going on....
jimjams, when you've got a minute, do you mind describing ds1's skin markings?
Well he has a few. Some hypopigmented parts and a large cafe au lait spot (just one). This cafe au lait spot went very weird before his regression! These papers describe children who have these markings, which resemble those that would be seen in neurofibromatosis or tuberous sclerosis- although they have features of both. He's recently developed a growth on his chin which having googled I wonder if it is something we should be getting looked at.
Very confused now. He basically has some signs of NF1 and some signs of TS, but not the full ticket. And these children seem to be the same (so the authors are saying its a new clearly defined nuerocutaneous disease).
Hmm will check him for freckled armpits etc tonight before I send the movement videos to the paed!!!
All they did at dx was screen for Frag X. There's never any interest in working out what might be going on!
ah. now, I thought that was what you were going to say.
I have quite a large cafe au lait spot on my back - developed whaen I was about 3 9funnily enough, after everyone stopped panicking about whether I was "normal"!)
as does my brother.
my spot has done a few weird crusting over things over the years, and I think his has too. autism is rife in both sides of the family (ranging form traits to bit odd to really very affected but still HFA)...
curiouser and curiouser....
CRUSTING OVER???? That's EXACTLY what ds1's did. To the point where we had it looked at by a derm. He said it was fine and described it as 'keratinised'. A few months later it swelled up, released a whitey fluid, blistered- these then spread across his entire body and he regressed. His mole cafe au lait thing returned to normal.
DS3 also has the same sort of birthmark on his back. Although much lighter in his case. He is fine obviously, but was a bit dodgy developmentally for a while.
God, how weird.
Seriously, I know my mum had real doubts about my develoopment - I was apparently quite similar to dd1 (can only rely on my (older) brother's word for this as mum no linger around), so very quiet/passive/not interested in play. Late speech too. But everyone muttered about youngest (of 3) child, and my brothers talking for me etc, and then i snapped out of it.
My skin mark has crusted over twice, and tingles a bit now and then.
when it has crusted over (last time I was 16, so trying to remember) it hurt liek hell for a couple of days - like an aching type hurt. Actually, if you've ever had shingles - you know how your skin seems to hurt in a bruised way? It was a bit like that, and then it started stinging/itching for a bit.
Hard to say what was going on with it, as it's on my back, but I would say it was weeping/sweating a little, and then that crusted over. the mark is quite large, about palm-sized probably?
have never had it looked at, but have occasionall vaguely wondered whether I should, and concluded that if it does the aching/stinging/crusting stuff again I will.
This blisters were diagnosed as eczema herpeticum -although the lab results came back negative. The derm (different one than saw the mole) thought that was still the most likely explanation though.
The skin differences in the papers are described as 'subtle'. Most of the papers are confined to a detailed descriptions of the skin changes as seen under a microscope so not that easy to take much information from.
Weird isn't it?
Agree, totally weird.
Have has a non-productive afternoon at the doctors. doc is happy to refer, but has no clue who to, and not much interest in beginning to find out (is a bit overworked, apparently )
so, as long as I can find out who to see, he will refer us on.
I did find out that dd1's organic acid levels have never been done, so might try to find general autism specialist (if that's not a contradiction ), get her levels tested, and take it from there...
he did point me in the direction of http://www.drfoster.co.uk/public.asp Dr Foster]], to have a search for a consultant - don't know if you've seen it before?
Bloody Hell, i'd never considered ds2's birth marks to be linked to his disability, but i'm wondering now??
Even the developmental paed said he didn't present with the disabilities usualy associated witha prem birth & he was very complex.
He has several birthmarks, was admitted to hospital at 18months as his birthmark became infected & he needed IV antibiotics - they couldn't quiet categorise his b'mark but said it most closely resembled a haemangioma.
He also had a small red growth/b'mark on his jawline that fell off.
He has one largeish Cafe au lait plus another much smaller one & raised red mark on his back the size of 20p.
He also has digestive probs, reflux, severe constipation & food intolerances.
He has ASD & mild CP.
He also has some strange movements that we have always thought were sensory but because of some strange nightime happenings we are waiting for a neuro apt to rule out epilepsy.
So whats his dx??? What do you think??
I am confused now
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