mitochondrial disorders & autism- are there enough of us for a thread

[saintlydamemrsturnip]

I've just read this month's autism file and the box about mitochondrial cytopathies stood out- my son has many of the symptoms. If there's enough of us I'll give the box and his score.

We are under a neurologist who agrees that it is a possibility and has suggested some simple tests and potential supplements that might help. As there's no agreed clinical treatment plan yet we have all agreed we don't want to go for a muscle biopsy at the moment but that it might need to be considered in the future.

However, reading the suggested treatment it struck me that it's all (AFAIK) fairly safe stuff, so I was going to try and find out more about the treatments and write to the neurologist asking about the 'giving it a go' without doing the invasive tests first approach (my impression is that if there is limited risk of side effects he might be open to the idea).

Just wondering where everyone else has got to and whether you are doing anything and if so what.

Low stomach acid - yes we ticked that box too iirc. Or was it a stomach enzyme? Hmmm.

yes, I know the feeling saintly.. we were given a lot of genetic info which we couldn't translate into anything practical. In the end I had to do something and investigated my ds resuls line by line (inc writing to authors of some medical papers). Still not quite there, but it helped me to have some sort of starting point. The book mentioned earlier also helped a lot as it's very practical, listing symptoms and often explaining what's behind them and there is a lot of practical advice. Hard to stick to the diet 100%, but when you see it working it does help.

But every so often I still find issues that need fixing, like with Zn.

Agree on vits generally, my ds had problems with absorbing fat-soluble vits when eating gluten. I do give him omegas, cod liver and more recently evening primrose oil(when he tested borderline for pyroluria), all this in a rotation, but I wouldn't give him high doses. In fact omegas were the first thing that helped in terms of concentration and skin problems.

what d'u mean, can't get (fish oil) into him?
U probably need to hide it? Cut the capsule and squeeze into any other food, I would. I do ratate the fat-based vits though.

meant rotate

Can't hide it. He has a ridiculous sense of smell. Uses it a lot to undetstand his world (for example he smells me to see where i have been). Went from nothing to ridiculous in one night!

I used to inject cod liver oil into cakes - he would eat round it. Tried putting it on pancakes mixed in with jam, he would refuse to eat it at all. Havev tried small capsules in the middle of a spoon of jam - refuses it - he can smell the capsule. He never eats any food at all without smelling it first.

Tried orange juice in a closed cup and straw he refused it. Tried 'first this' then biggest reinforcer going - won't do it. Tried melting chocolate leaving it to cool then adding oil so it's all mixed in. Won't touch it.

His brothers like the capsules so I try when they have one - but nothing so far.

Oh we did use the book btw - will re-read, but a lot of the issues that he had when we were doing that seem to have largely resolved- the digestive ones anyway. I will dig it out though and revisit.

saintly, your ds sense of smell is awesome, how interesting! could it be that he has overload of something in that oil? Sometimes it might be right to leave as is for a bit - or try a different one, eg omega 6. Strangely, a nutritionist we saw kept saying how many people are omega3 deficient, but when my ds was tested, he was surprised to find that my ds turned out to be omega6 deficient (later I found that I had to supplement omega6 and Zn); Zn is linked to sensitivity issues too.

he used to have almost no sense of smell. It made supplementation easy - if it looked right he'd eat it. Then we used the BIBIC programme and it literally went from 0 to 100 overnight. It can sometimes be embarrasing, if you stand up he'll try and smell your chair. I have had to pull him away from smelling the bottoms of complete strangers.

There's a good paper by Bonneh et al which looks at sensory processing in severe autism - I am sure it describes what happens in ds1 although - lots of clues that it is - I don't think hearing is his primary sense - probably smell or vision.

dd1 also has ridiculous sense of smell.

so far, she will take supplements, thankfully, but she will not touch anyitng at all with soya in - you can load it how you like, and offer as many incentives as you like, but soya will not pass her lips.

she actually has rejeted things form the next room, on occasion (inoffensive things (to you and me) like chips, or a different jam in her sandwich (she could only have smelt it - she wasn't in the kitchen when I made the sandwich, and hadn't yet seen ti before she was saying "all finished!", despite having been desparate for a jam sandwich all morning...)

Wow! Does she like strong smells as well? Ds1 does. I remember we had workmen here on a hit day. He took their workgloves off and inhaled (a new smell I suspect). They were horrified!

I odn't think so. she seems, on the whole smell aversive, but usually only with things liek food (although not fish oils, etc which she will happily take off a spoon )

her language is not brilliant, and so it is hard to work out what her reasonings are: she's not that bothered (seemingly) by most smells, and doesn't appear to notice most smells. but some things are just a definite "no", and others, liek the jam or soya issue, and completely unfathomable

ds1 shudders with a lot of smells. Glace cherries induce whole body shuddering when smelt

So, as I suspected, they would be passed down from my mother......this is very interesting...I will have to get my scientific brain on and do some reading. Cheers. And the smell on DS2's breath, it's always been there, it's just I could never pinpoint what it smelt of. Having read pear drops on this thread it was like a lightbulb moment. So it's something I should get checked out then?

Hi, coming into this from a completely different angle - my dd2 has a Mitochondrial condition (Pyruvate Dehydrogenase Deficiency) which was spontaneous in her but is x-linked therefore mosaic in her but usually early-on fatal in boys.
There are no treatments - but a few of you all mentioned thiamin/B12 - this is used to promote uptake of carbohydrate at cell level (athletes use this). Dd2 is on 100mg per day, but to be brutal, we do not know if this makes any difference at all to her.

Pear drops are a sign of Ketosis, which means the body is burning fat not carbs, so should really be checked out.

Saintly: your ds reminds me of a horse I had who would find and spit out the tiniest worming pill hidden in a huge jam sandwich!! (I don't mean to be rude and compare your ds to a horse though!)

Yes check out pear drops - describe it using those words and you should be taken seriously.

I think inheritancevis mainly maternal but expression can depend on many other factors (;and paternal????) our neuro wants us to see a geneticist. I will quiz them then!

Oh ds1 is very like a horse. When I go riding and we talk about training I am always impressed with the similarities between training the horse and him

yes, I am also aware that the gene expression can be tweaked with nutrition/supplements, it could be that becuase of their genetic makeup, they are more susceptible to relatively minor deficiencies, couldn't it?
Cases with similar genetic fault to my ds also have glucose-6-Phosphate Dehydrogenase deficiency (severe form is called favism, reaction to broad beans). Apparently this deficiency is quite common but not severe in many cases. Funnily enough, my ds dislikes any beans, makes me wonder. He has never been checked, but going by various deficiencies of digestive enzymes, I wouldn't be surprised if he was.

anyone can suggest any (ideally non-invasive) tests for something meaningful/ specific? Is there anything else that can be gained from urine?

One problem the guys in the States mentioned is that as the children get older it becomes harder to get meaningful test results. They were also a little critical of the commercial labs.

melted marsbars, if the body burns fats instead of carbs, could this be because of some enzyme deficiency that prevents it from breaking down carbs into cell fuel? This might be why low-carb diets work (as in the book mentioned earlier)?..

Yoram Bonneh's paper is here, it's the cross modal extinction one.

Could anyone possibly explain exactly what is meant by the 'burning fat not carbs' thing as I'm going to book a doctors appt. for DS2