Methylation: to test or not to test?

[otksmama]

I'm trying to decide whether to test my child for methylation issues, the MTHFR gene test. For those of you that have and are supplementing for over or under methylation, can you tell me what changes you've seen as a result? Are they significant? Subtle? Was there a physician guiding you through the process? Is supplementing considered a lifelong necessity?

Thanks so much for anything you have to share!

[bigmighty]

We found out DS had MTHFR gene mutations after he had already gone into remission. Now that he takes methylb12/methylfolate drops, he has significantly better social cognition and is much quicker at identifying subtle innuendo.

[peglem]

For my compound heterozygous child methylation treatment has DRASTICALLY reduced fight or flight rages. And she's not yet really in remission- but w/o the F/F rages, I had trouble recognizing a flare. It was so different to just have OCD and hyperactivity- anxiety still there, but so easily controlled. Her doctors are supportive, but really aren't savvy enough about it to be the leaders- LLM and another person from our local support group have been most helpful in educating me...

[otksmama]

Were changes immediate?

[pr40]

With our kids methylcobalamin B12 work like a magic wand. It worked for about 2 weeks. then it did not. We needed to correct the entire metyhlation pathway, which we have not done well yet.

I will answer a different question as well: should I do a genetic test?

Our answer is of course. but don't expect much. You can get the same info by trying this and that. ANd don't think that genetic test will add certainty. Science does not know how genes and mutations manifest themselves. Only when mutations correlate with symptoms can you figure out a PROBABLE causal link.

so, do it because you can and do 23 and me and get all the info you possibly can. then, tinker with different supplements and get to know this thing (genes, how they work) little by little.

[otksmama]

How do you correct the entire methylation pathway? What did you do after the two weeks of improvement? And what improvement exactly did you see pr40.

[peglem]

Were changes immediate?

Well, once we got the dosage correct, yes. Initially we had to experiment (and the doctor had over prescribed methylfolate) with dosage and timing (don't give at night). But, even at the too high dose we saw a pretty significant improvement in mood between the F/F behaviors, which tend to come on like somebody flipped a switch. I'm still amazed at how powerful this was for us- we've been dealing with some very severe behaviors for many, many years.

[LNN]

You might find this thread helpful on how to use genetic results to improve methylation and it gives some good reading resources http://www.latitudes.org/forums/index.php?showtopic=3928&page=2 (post #18)

 

I wouldn't just test MTHFR - I'd do 23andMe and look at all 30+ genes that play a role in methylation. You can also search the archives for a discussion this past spring about privacy and insurance concerns, just so you make the decision to test with that in mind.

 

When I first learned about MTHFR, 23andMe was in the $500 range, so we only tested MTHFR thru quest and had insurance cover it. I then addressed that one issue and only did 23andMe about 6 months later. But now that 23andMe is only $99, I'd have done the whole thing at once. There were issues for one of my kids that had nothing to do with MTHFR and yet finding the right balance of supplements have made a world of difference. For my other child, treating MTHFR gave us a simial night/day improvement as Peglem, tho instead of fight/flight, we saw a "bipolar" child become Steady Freddie within two weeks.

 

Two caveats - methylation has made my kids far more stable all the time. But it is not a "cure" for Pandas. It's been the thing that's made neurotransmitter levels balanced. But toss an infection into the mix and ask the body to divert resources to fighting that infection and things can still get out of whack - just not as severely or for as long. Their bodies also seem better able to ward of infections before they blow up into episodes.

 

Caveat 2 - you can see improvements quickly - in a matter of days to weeks - once you hit upon the right doses and balance of things. Finding that right balance is not immediate and it's not universal. One body might need 50micrograms of something while another needs 50 milligrams of that thing. When you find the sweet spot, it's easy to feel it. But finding it takes some trial and error.

 

I have to disagree with Pr40 on one comment tho. I don't think you can easily - or even safely - get the same answers by trying this or that, without genetic testing. One personal example is the supplement NAC. For some people, it's a really great supplement - can help with OCD and trichlomania and act as a presursor to glutathione - the master detox agent. But it made my DD flip out and I had no idea why. I then took it for a cough (it thins mucus) and it worked great. But after 2 months, I was depressed and gaining weight and quite by accident, had my liver enzymes checked as part of an annual physical and found my liver enzymes were a mess. I stopped the NAC, had another blood test a month later, and my liver enzyme were back to normal and my depression had lifted (the weight was a little slower to leave, but it too resolved soon after). Had I not coincidentally had the blood work, I could've damaged my liver by using a supplement I'm genetically not able to "methylate" (DD and I have a CBS genetic mutation that hinders our ability to handle the sulfur in NAC). After studying (and studying some more) our specific results, turns out there were other supplements we were taking that were not well suited and there were others that we added after testing that ended up helping a lot. So in my case, I did gain a lot from what I learned thru testing. No, science isn't fully there in the implications, etc. but even in its infancy, the things I've learned about methylation and my family's unique roadblocks have been literally life changing for the better.

[bigmighty]

DS's changes were immediate. But we started him at 1/5 of the recommended daily dose. Switched to 1/4 daily dose and he "became" adhd overnight. Back to 1/5 of the recommended dose and all is golden. It's definitely a matter of finding a sweet spot.

[smartyjones]

if you do go for only the MTHFR, I would caution you to be aware of your insurance coverage for the test. even with doc orders, they can not cover and claim 'not medically necessary' or 'experimental' etc, etc. if that happens, you may end up with a test from quest that may be double what some other companies will charge that do not go thru insurance.

[otksmama]

So I'm hearing that 23 and me is best, also cheapest--and most comprehensive. LLM--were results from this test what also informed you of your issues with NAC metabolism?

Are these things that need to be addressed permanently through supplementation? And what exactly is the supplement? Is NAC for this or something else?

[nicklemama]

My son is compound heterozygous. I cannot say that treating has done anything huge. We've been at it for 18 months. Initially, he was better. Eight months later, he caught pneumonia, had an exacerbation and had IVIG # 2. It has not stopped him from flaring either. We have stopped the B12 injections after a year and finding his B12 was through the roof high. Started giving him B 12 through a cream developed by Dr Kendall Stewart twice a day. Have since discovered giving the second dose of cream in the late afternoon was making him cranky and difficult in the evening. His new doctor told me too. Much B12 can cause agitation and anger. She's right.

 

All in all, I'm not sure what is exactly helping because we started him on enhansa, iron supplementation for extremely low ferritin levels , started treating ehrlichia and anaplasma with biaxin and augmentin and now he's doing really well. Had a cold last week and flared a little but that seems to be resolving itself. He told me yesterday "Mom, I'm really sensitive and I'm going to try to not be so sensitive anymore". Well, well see how that goes but it's a start. He's 9 and starting to recognize and verbalize more about PANS. We've been at that is 4 years. It's probably helping but it's not been a panacea.

[LNN]

So I'm hearing that 23 and me is best, also cheapest--and most comprehensive. LLM--were results from this test what also informed you of your issues with NAC metabolism?

Are these things that need to be addressed permanently through supplementation? And what exactly is the supplement? Is NAC for this or something else?

Well, it was obvious two yrs ago when I tried NAC for DD that it was wrong for her. But it was the 23andMe test this yr. that confirmed why. Once I knew we both have a CBS gene mutation, I knew from my research that we should avoid NAC, alpha lipoic acid and other things.

 

There's no single supplement for "methylation". What you need to take as a supplement or avoid in your diet depends on your unique genetic roadblocks/mutations. So if you have MTHFR issues, you'd look into methylfolate and methylB12 or hydroxyB12 supplements. If you have CBS issues, you'd look into using molybdenum to reduce ammonia levels and avoid high protein meals. If you have VDR Taq issues, you may do well supplementing higher doses of Vitamin D3 than someone who has a normal VDR gene.

 

And as Pr40 mentions, having a mutation doesn't mean that gene has been turned on/off. It means it could be turned on or off (depending on the mutation) at some point in your life. So 23andMe tells you what your risks are. But you need to look at symptoms and response to supplements to decide if that risk is currently present/active or not. It's very individual, which frustrates a lot of people because there's a lot of trial and error to find your own unique solutions. And since this is a very new field, with inevitable "mistakes" - the common thinking saying "do this" and then people come back saying "that didn't work" and the common thinking gets revised as feedback and additional research tells us more. Few doctors are knowledgeable enough to give you precise instructions. Not everyone is up to the task of being their own doctor and unfortunately, that's what you need to do at this point in the evolution of this field.

 

Is it for life? For my family, i think so. I view it the same way I would if someone in my family had diabetes. Now, if they're overweight and eat a lot of "bad" foods and need insulin, they can make lifestyle changes and reduce the number of interventions they need to make. My sister lost a lot of weight and changed diet and went from active diabetes management to a "pre-diabetic" situation where she no longer needed meds to manage it. If you have a genetic mutation, maybe you need supps to help correct something and then you could manage it with diet changes only. But I see it as a lifelong thing. But that's ok. I'd much rather know I had to take a special form of vitamin B9 every day than take heart medications.

 

As Nicklemama points out - methylation isn't the be all and end all. For some of us, it's been that missing piece. For others, not so much. This isn't meant to be an alternative to Pandas treatments. It's more of a foundational support. My kids weren't getting back to 100% with Pandas treatments. For them, methylation has given us not only baseline, but a better baseline. Yet they remain vulnerable to infections. It's one tool, one aspect of the problem. For us, it was huge. But it's a multi-faceted problem and this is one (important) way to address one of the facets.

[smartyjones]

also just to mention -- not with opinion to sway or not -- we have done MTHFR, not 23 and me -- for some reason, not pulling the trigger -- my state doesn't allow, but I have figured out a way around, I think I need to just do it

 

anyway, ds shows no MTHFR mutation; I have single A1298C. so - nothing to do for him; very difficult to figure out what is recommended for me. I do suspect CBS mutation -- ??

 

point being -- a lot of people are posting that they have discovered issues with MTHFR - but it is possible only MTHFR may not give great info.

[tenyearswithpans]

I still have yet to get medications for my true pans disorder antibiotics/steroids etc. Psychiatrists have tried every med on me because they didn't know about pans and some just don't accept it. I can say from my own history of trial and error the only things that help for me are stimulants and stimulant acting antidepressants. It took a lot of asking because I had anxiety but my anxiety is so much better and ocd tics sudden rage. I feel like my Adderall which I am soon getting vyvanse is the only thing that makes any difference I'm in college now and I was on every antipsychotic but 2, all antidepressants, maois, and benzos. None of them turned my life around at all except when they tried stimulants. The reason I think this is is because as far as I heard from know about pans pandas it effects dopamine so that's probably why.