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

(96 Posts)
saintlydamemrsturnip Sun 31-Jan-10 12:22:49

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.

PipinJo Sun 31-Jan-10 13:30:57

Message withdrawn at poster's request.

saintlydamemrsturnip Sun 31-Jan-10 14:08:15

Of course; will write them out later (have to do online shop now then fetch ds1). I'll also check back at the supplements he suggested. I think iirc he talked about a biotin deficiency, and said it was worth checking because it's relatively easy to check (blood test) and easy treatment if it does show up to be a problem. He said he felt it was unlikely though, but definitely worth ruling out.

Our neuro talked about an MRI. Because we said we wanted to avoid invasive tests without a clear likelihood of finding something he suggested deferring but he said he would be more than happy for us to come back as things move on and consider it again. He also said he felt that in the future MRI's will pick up things they can't pick up now.

I was talking about a regression after a viral illness, so it is easier I think for docs to have that discussion. I thought the neuro was very helpful indeed. He didn't claim to be an autism expert, but he listened to us, considered what we were saying and gave us a lot of his time. He was also very aware that we don't have all the answers about autism now, that it's very complex and that in the future there may be a lot more known.

Will do list for you tonight. And good luck. I really wasn't expecting much but I was very pleased with the appointment.

saintlydamemrsturnip Sun 31-Jan-10 14:09:06

I may have misremembered biotin - it was a B vitamin, and I'll check later.

PipinJo Sun 31-Jan-10 14:28:28

Message withdrawn at poster's request.

nightcat Sun 31-Jan-10 17:08:45

Hi saintly, I would also be interested in your findings, my ds is not so much autistic as recovering from neuro-deterioration. SOme of his symptoms were v. mildly autistic maybe, but I came to the conclusion that it's poss to use nutrition to reverse some of the health problems inc. neuro.
The best start for me was Gut and Psychology Syndrome by Natashe Campbell McBride and we have also been going along the non-invasive route, most recently doing hair and urine tests. My ds is a teenager now, so maybe older than yours but for us it's been like peeling the onion to get to the centre - all very positive and hopeful but largely driven by me refusing to give up with very understanding neuro and paed. I'd love to hear more from you and your experts!

nightcat Sun 31-Jan-10 17:09:39

PipinJo, yep, oxidative stress been heavily talked about in the context of my ds condition!

PipinJo Sun 31-Jan-10 17:42:37

Message withdrawn at poster's request.

nightcat Sun 31-Jan-10 18:09:44

PJ, my ds on g/f diet too, trying to limit others(was dairy free before we realised gluten was a problem, now has mainly goats dairy if any).
Most recently through blood & hair test it's come out that despite 4 years on the diet he had still too much copper & not enough zinc - I wish I had spotted it sooner, but didn't understand (liver enzyme)tests done 2+ years ago (and the standard comment was "no significant abnormality" :-o). Cu can be quite toxic to the brain & other organs if unable to clear it out.
I have learned to look at test results in terms of borderline, as they often were and fine-tune the deficiencies etc. Took me ages to get my head around some results as there was no one to provide answers there and then - some of it I found in research papers and/or nutrition books. Hair test was good too.
I am glad I haven't embarked on iv chelation, because afaik (see that book above), by doing the right diet plus fine-tuning supplements you can slowly detox as well. And I think it's better to do it slowly to avoid liver damage. Gently supplementing Zn has helped my ds in terms of faster thinking and more real-time reactions. It has also increased his taurine levels in the urine which are now in normal range rather than badly deficient.
The way I understand oxidative stress is when the cells are unable adequately to clear the metabolic products from them (ie from mitochondrias which are energy organeles) and as a result the cells slowly stop functioning - this is how it was described to us in terms of ds brain (that metabolic products were so toxic that they were killing the brain cells).
Saintly's neuro sounds like ours, we have an option to go in for mri, but as my ds has improved, we were happy to leave it for now.

PipinJo Sun 31-Jan-10 18:30:47

Message withdrawn at poster's request.

nightcat Sun 31-Jan-10 19:39:32

PJ, my ds was also amino-acid deficient! And apparently no supplements were suitable, so we couldn't do anything at the time. But he was also self-imposed vegeterian (food resticting) and I had to try and break that circle by smuggling meat into his foods, started with egg.
Was your ds low in Zn then? Coz I found out that would suppress his stomach acid, my ds simply couldn't digest any protein as he was not able to through low stomach acid.
His liver enzymes were also low and had low pancreatic enzymes too.
I know what you mean on myelin, some research links ataxia (my ds had signs) with demyelination. Oh yes, some ataxias respond to fatty acids (omegas, vit E, vit D's), my ds has omegas and also other fat-soluble vits from time to time (2-3 times a week).
I do look up some forums on neurology and autism, because I think there are a lot of similar symptoms once you venture into neurology.

nightcat Sun 31-Jan-10 19:59:47

PJ, just struck me, myelin autoantibodies could have been a result of gluten (before g/free)?
U could retest at some point coz if that, they may have improved. Myelin can also improve with right fatty acids. No expert on this, but my view is that it's better to try something in the vits etc range then do nothing.

silverfrog Sun 31-Jan-10 20:23:01

I saw that article too (when I dug out my Autism File copy the otehr day to scan article for you grin), but have yet to find enough child free time toread it properly!

I am approaching this backwards, in a way, as it is dd2 (thus far NT, although many, many traits, and I would be surprised if shedoesn't end up AS) who has suspected mito-dysfunction.

dd2 was FTT as ababy. Quite severe weight non-gain (8lb when born, dropped off the bottom of the centile charts by 4 months old, and stayed off thecharts until well past 18 months)

we had all the usual tests (CF, heart issues) didn't have coeliac as she had been gf/cf post weaning (whichis when I was first written off as a loopy parent!)

anyway, everyhting came back negative, but she was still worrying docs - she was about 14lb at 16 months old, despite eatinglike a horse (we ran out of room on the dietician's form to list everything she'd eaten over 3days!)

and so dd2's paed ran a full bloodwork. and the results baffled him. he refused to accpet them, and ran more tests. same result.

he wanted to run the tests again,and after a full blown row (he wouldn't tell me what the "weird" result was, as he "didn't want to worry me"hmm) told me what was going on. dd2's results were raised 3-hydroxyglutaric acid levels but h ewas very quick to dismiss this as dd2 was, in his view, so obviously not affected hmm. a third repeat test showed the same (he just wouldn't let it lie, and insisted on the re-test to "give me peace" - obv he thought that th test result would be fine!

anyway, this was about a yearago now, and we life has overtaken somewhat, butone day soon I will get back on thecase and find out what is going onwithdd2...

and also get dd1 tested and see what's going on with her too...

saintlydamemrsturnip Sun 31-Jan-10 20:49:46

Hello again. I'll write more about ds1's history now.

He's 10 now. Uneventful birth. When his problems first became apparent and I was asked to provide a history I always said he met his milestones, but only just within the normal range for motor milestones. So he crawled at 13 months, walked at 17 months, was late to be able to sit unsupported (and sometimes used to crash backwards without warning), was late to reach. Socially his development was normal. He smiled right on time, lifted his arms to be picked up, played peek a boo. He started talking around a year. - really simple stuff like 'qua qua qua' for a duck, ssssss for a snake, 'dar' for star. He had a lot of ear infections - all treated with antibiotics. At 11 months he had a viral stomach upset, standard stuff, then shortly afterwards he became covered from head to foot in blisters. It sort of looked like chickenpox, but sort of didn't. My GP was really worried and had him referred as an emergency to a dermatologist - we were seen within 48 hours. She thought he had eczema herpeticum (when the herpes virus infects eczema) and put him on acyclovir, which I have since found out can be toxic to mitochondria.

After his illness he regressed socially. His sounds and words disappeared. He cannot produce a ssss sound now, nor can he produce qua qua qua. He tries to speak now but can't. He started eating bread bread bread and cheerios. And nothing else. He had been a very good eater. He then started having episodes of vomiting. It seemed related to stress and/or not eating. His breath smelt of pear drops and he would be wiped out for 3 days and vomit everything. I eventually found that adding sugar to water and giving tiny sips helped shorten the length of vomiting. (From a natural health book!)

Last year I 'attended' an online Floortime conference. one of the speakers was Richard Kelley from Kennedy Krieger. He gave a description of mitochondrial disorders whereby he said that children often had normal social development and very mild motor delay. Not enough to notice unless you were looking for it. Regression then followed a viral illness (v. occasionally a vaccination). The regression took the form of a mild loss of skills but basically development just stopping. This was ds1 to a tee so I wrote to him and he agreed ds1 should be investigated. He gave me the details of a paed neuro in Cambridge who also agreed ds1 needed to be see by a neuro. I used these 2 emails to ask for a referral. His local paeds were slightly concerned about seizures so they were happy to refer anyway and that's where we are today really.

The box in the Autism File says the following. I'll write the bullets in caps then add ds1's symptoms after each bullet point.

1) LOW MUSCLE TONE- WEAK SUCK, DROOLING, POOR HEAD CONTROL - yes- if you see the bits about late to sit (and the falling over), he was late to lift his head as well.
2) CONSTIPATION. - all the time when younger
3) PICA - not really
4) MOVEMENT DISORDERS - POSTURING, WRITHING, JERKING - yes- this describes the things investigated as seizures. The neuro thought they were stims, but I remain to be convinced really, he does stim as well but these seem different to me and are often accompanied by sweat pouring off him and him sort of burning up. They started post regression.
9) DIFFICULTY KNOWING SELF IN SPACE- yes - he used to do things like end up facing the wrong way on the toilet, or if I said 'lie down' be unable to get himself onto his back- he'd be on his front instead
10) GROSS AND FINE MOTOR DELAYS - severe fine motor delays and some mild gross motor delays when younger
12) SPEECH (EXPRESSIVE AND RECEPTIVE) DELAYS. non-verbal - in part because of severe verbal dyspraxia - if he could produce speech sounds he would just (in the last few weeks) be entering a 2 word stage. He's 10.
13) GI DYSMOTILITY, CONSTIPATION, REFLUX. Yes to constipation, not sure about reflux. He does self injure a lot which can apparently be a sign.
14) MIGRAINES - yes
15) ABNORMAL SWEATING - yes combined with the funny movement episodes.

The treatments they suggest are CoQ10, Carnitine, Roboflavin, Antioxidants (vits A, C, D, E and GSH), B6 and magnesium, other B vits, B12, folinic acid, thiamin.

A few years ago I met up with Derrick MacFabe. We had quite a few chats at a conference (he is worth googling for a video he has presented type Derrick MacFabe autism Canada and it should come up) and he talked a lot about carnitine.

Talking of siblings, I strongly suspect ds3 has the same predisposition as ds1. His development was odd until we switched him to goats milk at 15 months (we had him Sunderland urine tested and his profile was worse than ds1's - esp for milk). He had repeated ear infections and burst ear drums. But he hasn't ever been near an antibiotic (interestingly when he was in hospital for a febrile convulsion that hospital said they would not give antibiotics for ear infections or burst ear drums - that's a change since ds1!) and he hasn't had vaccinations. Before we switched him to goats milk his sweat (and there was lots of it) used to smell quite acidic, or something, it was very noticeable and it was almost greasy. Hard to explain but dh commented after I'd noticed.

DS1 used to be gluten free, we still limit it, but he seems unaffected now (he used to be affected by tiny amounts). His gut seems normal now though - gone are the days of constipation and overflow. DS3 is now 5 and eats a normal diet - after spending a few years avoiding gluten and cows milk. His development didn't look back really from the time we introduced goats. I do think we have a very close shave with him though.

PipinJo Sun 31-Jan-10 22:21:40

Message withdrawn at poster's request.

saintlydamemrsturnip Sun 31-Jan-10 22:27:39

derm said definite e herpeticum- so that could have affected him too (of course treatment for that is acyclovir but I don't really want to go there).

Ds1 didn't eat meat, fish, cheese (unless hidden), fruit or veg for about 5 years. He would eat gluten free pizzas and buckwheat pancakes and that was it. Plus cakes.

Ds1 couldn't hold a cup until I taught him aged 17 months! I had to stand behind him hand over hand and tip the cup. I had no idea that wasn't normal! It hadn't occured to me it was a muscle tone problem but thinking about it he used to pick it up but be unable to get it to his mouth so it probably was.

PipinJo Sun 31-Jan-10 22:38:46

Message withdrawn at poster's request.

saintlydamemrsturnip Sun 31-Jan-10 22:58:06

He was used as a case study for med students so he had e herpeticum, but that is herpes in a different form from that usually described by NIDS I think. i'll have another look but I've looked a couple of times before and not felt it quite fitted him. Can't remember why - would it have been because NIDS kids were higher functioning???? Vague recollections I can't remember. I did join the mailing list but it seemed different to ds1. I will look again though.

We can't really tell handedness-something the neuro asked about - as he doesn't seem settled and as his grip is still so weak.He can't hold a pencil properly for example. Has started to mark make but again it's all very weak pressure. He can now point but if trying to get him to keyboard he tends to use his middle finger. I'll watch for one sided weakness but nothing obvious.

CardyMow Mon 01-Feb-10 01:10:59

Trying to read this (it's all quite sciency grin. But hen I read about the pear drops smell...then looked at that list of symptoms...OMFG It's DS2. Can anyone explain all this to me in (simple) easier terms? DS2 has-the pear drops breath,as for that list...: 1) yes, didn't support HEAD until 13 months 2) no, 3)yes, constantly, still has occasions of pica at 6yo 4) no, 5) no, 6) yes, he was dxd with hypermobility syndrome at 7mo 7) yes, he still has a NAP after school every day for 1-2 hrs, in Y1 8) yes, to the point it looks painful 9) yes, to the point where he has to do proprioception exercises 10) yes, he has been under physio and OT all his life, can't push the pedals AT ALL on a bike/trike OR produce ANY written work at school 11) yes, what's hand eye coordination?! 12) yes, he still has speech therapy although is verbal now (was totally non-verbal until 3.6yo) 13) no, 14) no, 15) yes, even at 6mo you could wring his socks out and be standing in a puddle.

I'm all confused by all the technical sciency gubbins, but have seen a GF diet mentioned. It piqued my interest in reading the rest, as DS1 (my 'NT' one) is coeliac....

CardyMow Mon 01-Feb-10 01:12:42

Plus DS2 is 'almost' vegetarian. He would be given the choice, he resists eating ANY meat (unlike the rest of us, who are all inveterate carnivores!)

CardyMow Mon 01-Feb-10 01:17:57

This has really got me interested. does this mean you are talking about a problem in the mitochondrial DNA that may have a bearing on ASD's? It's just that I (supposedly NT) have uncontrolled epilepsy, no meds work. DD has epilepsy, and is asd. DS1 is apparently NT (with aspergers traits), and is coeliac. DS2 has more than half the list you have here, is asd. My mum is coeliac, her brother (my uncle) is aspergers. My 18yo brother is aspergers. hmm. Is mitochondrial DNA from both parents? Or just one? If one, is it mother or father?? <<long time since I tried to think in a sciency fashion>>

CardyMow Mon 01-Feb-10 01:19:43

The ear infections...DD had 17 before she was 1yo. she still has between 4-6 a year and she's almost 12yo now. DS2 gets recurrent (severe) chest infections.

PipinJo Mon 01-Feb-10 08:51:48

Message withdrawn at poster's request.

saintlydamemrsturnip Mon 01-Feb-10 09:18:53

Loudlass - traditionally mitochondrial problems (and there are many) have been viewed as something that causes profound disabity. However, more recently they've started to look at regressive autism and found that in a surprising number if cases when you look at the mitochondria you find there are issues. The classic model would be a child who is more or less developing typically then some sort if fever in combination with a mitochondrial problem and you're off into autism.

But there are lots of other mitochondrial issues too.

If your child's breath smells of pear drops it means they are not respiring sugars - which means that they are low in sugars - this should be investigated really.

nightcat Mon 01-Feb-10 11:14:06

PJ, the forums I look at are Brain Talk BrainTalk and celiac celiac. On celiac forum there is a section for related disorders and research; I found these very informative for the issues that seem to overlap and for tests commentaries.

Saintly, PJ, my ds had majority of the bullet point issues pre-diet. Most improved, but still left with some speech, comprehension and motor ability issues. I must say some of the proposed treatments like iv chelation or hyperbolic oxygen I found too remote and wouldn't be sustainable long-term for us so was glad when I found that book which talks about nutrition which can be done at home.

Zn is in the meat and also in pumpkin seeds. Many nutrients inc Zn are better absorbed from meat, I wish I had twigged on that earlier. Probiotics are for gut and u can get these not in dairy (eg BioKult & others), they shouldn't affect acidity. ANd Zn is a growth factor for many areas in the body as well as DNA (zinc finger structures).

My ds improvement was in steps, first he reacted quite badly to diet (withdrawal), then he developed all sorts of problems echolalia, nose bleeds and more), that were a result of deficiencies coming to light. He is a bit lopsided still (his right side seems weaker). For years we were told he had wasted muscles and couldn't walk more than 5 mins w/o saying his legs hurt, but this has improved since the diet. My ds can now handle small amounts of meat, I do think it's important to tread slowly as not to overwhelm the organs, I know what you mean about vit A megadoses PJ, I would be too scared as well. Every so often I notice there is a positive leap in my ds, it's like he needs to build up somewhere before moving on to the next level.

There are lots of ataxias (eg Friederich's is linked to mitochondrias), was so scared early on (and accepted a poor prognosis) that couldn't bring myself to read about them, but eventually took the plunge. Then after reading celiac forum I found out that some adults have reversed diagnosed ataxias through careful diet and nutrition. I now think they are often diagnosed through symptoms and if the cause is not found/obvious then there could well be a chance of improvement. Same for dermatology, our neuro published a number of papers on gluten and dermatology as well as neurology.

Interesting you say PJ your ds was high in taurine, coz mine was taurine deficient. But this was since we went on the diet, then it has increased and is now in the normal range.

We need to do sunderland test, do you know of any more non-invasive tests that I could do to check how things are now? We have done urine aminoacids recently, some still borderline. What other tests did you find useful?

Loudlass, found these 2 papers, it looks like it's maternal DNA mainly transmittable to offspring (for muscles at least, see pubmed):
"Paternal transmission of mitochondrial DNA (mtDNA) is (fortunately) rare", also this

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