SNP results, help for my daughter?

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Hi everyone!

I’m seeking some advice regarding my daughter who does not have CFS but suffers from autism and has been gradually regressing in terms of behavior, tantrums and anxiety. She is also non verbal. The home situation is very stressful due to these issues, and it’s hard imagine she’s not even 2 years old yet!! She and her healthy twin sister will be 2 in a few weeks. Anyway we’ve been pursuing the biomedical route with no success.


Attached is her SNP profile.
CCDF38E4-4C90-499E-B816-D5BC1AA526C8.jpeg


To everyone’s surprise her bloodwork was essentially perfect. Homocysteine being 5 . She has normal to high levels of b12 in her blood so our doctor did not want to pursue supplementation although I’m now reading that high levels in the blood don’t necessarily indicate high levels in the tissue or that it’s being absorbed, that it’s essentially just floating around unused because she doesn’t have the proper genes to convert. Due to her homozygous mutation, it was strange to see her levels look so good - so I’m not completely sold on her not needing b12.


The complicating factors are her heterozygous COMT and VDR taq which indicates a methyl intolerance.


I have read in this case it is better supplement Hydroxocobalamin and Adenosylcobalamin as opposed to Methylcobalamin. I’m also reading about the use of lithium orotate and it’s importance before introducing more methyl donors. This is now kind of over our doctors head, and my own because her situation is very complex.


He recommended a cocktail of:

250mg tmg liquid
1000mcg methylfolate
Omega 3 Fish oil (higher dha ratio)
Probiotics
Biocidin


She is currently taking just the TMG along with her multivitamin (pure encapsulations junior, 1 cap). I’m being very conservative with adding each supplement one at a time to watch out for any negative side effects. She’s been on the TMG for 2 weeks now with no positive effect... maybe even worsening of behavior but it’s hard to say. Now since discovering the potential for methyl intolerance I’m considering adding a very low dose Lithium Orotate (2.5 mg) to see if this can help balance her out.

Does anyone have any advice on where to go from here? Any guidance would be very much appreciated!!!
 

alicec

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Sounds like you have been reading Yasko.

You should be aware that most of her SNP claims have no substance. Either there is no evidence for them or the evidence is to the contrary. Much of what she says about metabolic pathways is just plain wrong and her diagram of interlocking pathways is incorrect.

A few of the SNPs she is interested in do have some effect but they are extremely common and widespread and are certainly not the cause of serious illness. Modest supplements of the appropriate vitamin or mineral cofactor would usually be sufficient to counter any effect of enzyme slowing due to these SNPs.

Of the SNPs you list, COMT V158M, MTHFR C677T and MTRR A66G do slow the action of the enzyme produced by the respective genes, but as noted above, the effects are modest. Many millions of people live with these SNPs.

High blood levels of B12 can indeed be associated with B12 deficiency (or be indicative of some disease states) - here is a review of the phenomenon.

Homocysteine can be a useful functional measure of B12/folate metabolism, but MMA (methyl malonic acid) is a better functional measure specific to B12.

There is no substance to Yasko's claims about COMT and VDR SNPs meaning methyl sensitivity. It is simply a theory of hers with no scientific backing. Some people are indeed sensitive to methyl groups, but it has nothing to do with these SNPs. Plenty of people on this forum have put the claims to the test and found them to be wanting.

The SNP analysis you show from Genetic Genie is limited to those SNPs that Yasko is interested in.

You might find that Promethease and/or Enlis give a much more comprehensive analysis and rank SNPs on the basis of research, rather than whim on the part of someone who is trying to sell supplements.

You will find a number of threads on this forum looking at a variety of SNPs.
 

Sundancer

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Must be very hard, both for your daughter and for the rest of the family. Have an autistic son myself ( grown by now)

concerning genetics and cannot add anything.
But would like to ask whether she's on gluten/dairy/soy/sugar free diet? and if she already is if you have tried giving her some DPPIV?
 

nanonug

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I’m seeking some advice regarding my daughter who does not have CFS but suffers from autism
I agree with @alicec that Yasko's stuff is mostly pseudo-science.

I recommend a video by Naviaux in which he addresses the possible cause of autism and a treatment using a one-hundred year old drug called suramin:

As suramin is not easily obtained right now, I'd focus on treating autism as a mitochondrial disease (which may very well be, BTW.) I'd involve a pediatric mitochondrial disease specialist for this purpose.
 
Things have moved on since Yasko.

Here are two things to check out - Ben Lynch's new book "Dirty Genes". He's done two years of research in the study literature and selected 7 genes which are the most important. Some of them are the same as Yasko's, but some not.

If you want, you can run the raw DNA through Lynch's Strategene test and see what her genetics are for the seven genes and more, but there is also epigenetics to take into account. Epigenetics is the environment's influence genetic expression.

The Dirty Genes book covers the epigenetics. You don't necessarily have to have DNA to find the book useful, but since you already have it, why not.

The other thing is the Andy Cutler frequent dose chelation protocol for chelating out toxic metals such as mercury. The protocol has been around about 20 years. Cutler has estimated that about 75% of autistic children have mercury, and chelation can help considerably.

I see stories pretty often on the Cutler Facebook group about autistic children improving, up to and including losing their autism diagnosis.

Note that toxic metals can dirty up all your genes. They're unfortunately ubiquitous in our society. Children receive a portion of their mother's body burden of toxins in utero. So they can start out life already toxic. Then add in whatever new exposures they get and voila, they become sick.

Lynch mentions sauna for metals, but that won't get mercury out of your brain - and I don't know about sticking a two year old in a sauna anyway!

If you click on my signature link, it goes to my blog page which has links to everything I mentioned.
 

alicec

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I would urge caution with Lynch also.

I am not familiar with the entirety of his Stratagene report because I was not willing to pay money for something which I know includes at least some wrong information, based on his statements on his website and other places.

But at least with the SNP analysis in Stratagene it is possible to independently verify his claims. With Dirty Genes, where he is proposing that on the basis of your answers to his quizzes he can solve your problems, we just have to accept his word.

He is saying "Trust me - I can interpret what is wrong with you" - with no basis whatsoever apart from his claimed superior knowledge.

Well I don't trust him. Too many of the things he says which can be independently verified are wrong.

In this post, I go into detail about what is so very wrong with what he says about one of his so-called dirty genes.

After that, I could have no confidence in what he said about the rest of the supposedly problematic genes. Certainly I was not willing to pay money for a book which includes such misinformation.
 
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Thank you everyone for your input!!

Wow I didn’t know that the idea of COMT and VDQ TAQ being related to methyl tolerance was exclusive to Yasko or an idea she founded. I knew about the CBS thing being debatable but on many websites there have been the charts outlying which b12 / folate type would be optimal depending on ones COMT / VDQ makeup. I will say my SNP’s are obviously very similar to my daughters and I’m really not effected at all one way or another (that I know of ). So maybe I’m putting too much emphasis on all of this.... I guess I’m just desperate to help her and I have to believe there is a biomedical component somehow. So many people out there have somehow “cured” their children doing things I’m already doing. It’s very disheartening that there hasn’t been any improvement. Lithium is kind of what I’m clinging to at this point, there’s other things I haven’t tried like melatonin, GABA, 5htp etc. but I feel so unsure about what I’m doing and the potential to make things even worse.

Her Mercury was tested at <1 .. so no issues there however her aluminum was a 6 which falls within normal range but I guess could always be lower. She has been on GF/CF/SF for almost 3 months with no change... infact like I said she just keeps getting worse :( She was negative for celiac. So I’m seriously considering dropping this diet for her. She actually seemed so much better on dairy and gluten, although it could of just been because she was younger and her issues less obvious.
 

Eastman

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I’m seeking some advice regarding my daughter who does not have CFS but suffers from autism and has been gradually regressing in terms of behavior, tantrums and anxiety....

She has normal to high levels of b12 in her blood so our doctor did not want to pursue supplementation although I’m now reading that high levels in the blood don’t necessarily indicate high levels in the tissue or that it’s being absorbed, that it’s essentially just floating around unused because she doesn’t have the proper genes to convert.
Have you seen this article by Dr Derrick Lonsdale, Are High Folate and Vitamin B12 Linked to Low Thiamine in Autism and Other Disorders?

Excerpt:
Many years ago I was confronted by the case of a six-year-old child... I had a blood test performed that showed that he was vitamin B1 deficient. But there was another strange association. Folate, a B vitamin and vitamin B12, also a B vitamin, both had very high concentrations in the blood...

... I treated the child with megadoses of thiamine (vitamin B1) and sent him home. To my great surprise, not only did his health improve drastically, his feverish episodes ceased and the repeat of the blood tests showed that the levels of folate and vitamin B12 had fallen into the normal range.

... Both thiamine and vitamin D deficiency have been described in the medical literature as a cause of autism.
 
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Wow. So supplementing the b12 head on would not be as effective as b1 because of her mutation ? Isn’t the TMG helping with this at all? She gets a tiny bit of (methylcobalim, 50mcg) in her daily multi but I could not attribute her high levels to just that small amount.

Still on the fence about the over/under methylation. If I did b12 I’m inclined to use hydroxy vs methyl just incase, because I know many people cannot tolerate methyl b12 and she’s a hyper kid as is. I just wish there was someone I could consult who could put this all together and simply tell me what to do. Here are her lab results incase anyone was curious. Note the high b12 and b6. (There’s no b6 in her multi!) so again, odd.
 

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My personal experience with ASD for a child is to run the stool analysis several times (I did these through Yasko about 8 years ago). My child had overgrowth of Klebsiella pneumoniae. Unfortunately it needed antibiotics to eradicate it. That was a breakthrough. This was way more important than any snps for us.
 

Eastman

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Looking at the results again, all the bacterial strains are high. I’m surprised he didn’t recommend antibiotics or really discuss this with us. I think it’s time to find a new doctor, sigh.
 
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According to Yasko, +3/+4 for Klebsiella and other non beneficial are worth treating. Not saying this is way to go, always defer to doctor. Just letting you know our experience.
 
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According to Yasko, +3/+4 for Klebsiella and other non beneficial are worth treating. Not saying this is way to go, always defer to doctor. Just letting you know our experience.
Gotcha. Yasko is not able to px medication across state lines though, so in your sons case she worked in conjunction with a local doctor? Would potent probiotics have any benefit here to naturally rebalance all these nasty strains? I know you said in your case your son needed antibiotics, was this based on the +4, or more thorough testing?

We are in New York. If anyone knows of a genetic specialist (not specific to autism ofcourse) but with biomedical background treating CFS and a firm understanding of gut imbalances etc in the tristate area, please share! I guess if this miracle doctor existed many of us wouldn’t be here ;)

I started this topic much less confused than I am now there is clearly so much that I still don’t know, so many different paths to explore and correct.
 

Sundancer

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ffor me too, much info on this thread, I'm mum to a grown man with autism. Would that I had been aware of things like this when he was a child.

and indeed, look for a good doctor to help. Your kid is so young and you can only go on her behavior.

still want to add a little.
She has been on GF/CF/SF for almost 3 months with no change... infact like I said she just keeps getting worse :( She was negative for celiac. So I’m seriously considering dropping this diet for her. She actually seemed so much better on dairy and gluten, although it could of just been because she was younger and her issues less obvious.
I went on that diet ah..about two years ago, I've always been low on gluten and soy. But was a big dairy-user. It took many weeks of more stress in my body to become free of ot. Many weeks, not the few days that is mentioned often. Then I started DPPIV enzyme, ths is an enzyme with a ton of uses but one of those uses is breaking down those exorfins that are settled on the receptors meant for endorfins. I still cannot tolerate the dose that would be needed, I get very stressed out. So that may be one of the reasons that your kid seems to do not well on this diet.
Is she prone to ear and throat-infections?

I just wish there was someone I could consult who could put this all together and simply tell me what to do. Here are her lab results incase anyone was curious. Note the high b12 and b6. (There’s no b6 in her multi!) so again, odd.
In some bought food ( cereals) there is folic acid and B6 added, you might want to look at that,

wish you much luck with helping your kid, finding a good doctor and staying on your feet. take good care of yourself. The thing most important is for you to be stable and rested. For you yourself and for your kid.
 

nanonug

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So supplementing the b12 head on would not be as effective as b1 because of her mutation ? Isn’t the TMG helping with this at all?
This has nothing to do with methylation, it has to do with the ability of mitochondria to produce ATP: thiamine is a fundamental cofactor in this process. Study up on mitochondrial oxidative phosphorylation and citric acid cycle if you want a better understanding of these issues.
 
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This has nothing to do with methylation, it has to do with the ability of mitochondria to produce ATP: thiamine is a fundamental cofactor in this process. Study up on mitochondrial oxidative phosphorylation and citric acid cycle if you want a better understanding of these issues.
I wanted to thank you for posting that video by Dr. Naviaux. WOW. If only this drug (or one similar) were available now. There was another thread about potential natural alternatives but do not know enough about this yet. http://forums.phoenixrising.me/inde...inol-and-kudzu-anti-purinergic-therapy.52427/

Just to clarify increased ATP (through co factors such as Thiamine) is what will allow b12 and other essential vitamins to be used within the cells themselves?

Thank you so much everyone for all your input thus far
 
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Gotcha. Yasko is not able to px medication across state lines though, so in your sons case she worked in conjunction with a local doctor? Would potent probiotics have any benefit here to naturally rebalance all these nasty strains? I know you said in your case your son needed antibiotics, was this based on the +4, or more thorough testing?

We are in New York. If anyone knows of a genetic specialist (not specific to autism ofcourse) but with biomedical background treating CFS and a firm understanding of gut imbalances etc in the tristate area, please share! I guess if this miracle doctor existed many of us wouldn’t be here ;)

I started this topic much less confused than I am now there is clearly so much that I still don’t know, so many different paths to explore and correct.

Luckily, I showed pediatrician results and she RXed the antibiotic. And Yasko was recommending probiotics too afterwards. Nowadays, there are more herbal options, and a good stool analysis will recommend susceptibility of each bacterial strain eg Klebsiella will be killed by xyz herbal or probiotic.

However, the whole process typically needs to be managed by professional MD or ND. My experience was in the era when there were very few knowledgable people around. Sorry I cannot be of more help.
 
Her Mercury was tested at <1 .. so no issues there however her aluminum was a 6 which falls within normal range but I guess could always be lower.
What kind of test? Blood, urine, hair? Provoked, unprovoked?
The testing for mercury is tricky. A blood test will just show a recent exposure. A provoked urine test will redistribute mercury and can make someone sicker.

What Cutler uses is a hair test which shows the toxic metals, but also the minerals (essential elements). The mercury may show low on this test too. But if you look at the pattern of minerals using Cutler's counting rules, it may show deranged mineral transport. This is a sign that mercury is there causing damage. It's like finding fingerprints at a crime scene, vs catching the actual criminal in the act. Mercury doesn't show up in the hair, because the body is not detoxifying it. Mercury blocks your ability to detoxify. High aluminum is caused by the presence of mercury.

ps. if you want people to get notifications that you have replied, you can either tag them like this: @caledonia or reply to their message, which will quote it and also send them a notification. Otherwise, they may not see your reply.