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Newbie with Yasko results need guidance

Discussion in 'Genetic Testing and SNPs' started by Jeri Lynn WI, Jun 2, 2013.

  1. Jeri Lynn WI

    Jeri Lynn WI

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    Hi everyone~
    I just got my Yasko test results and would hugely appreciate any input. I haven't yet figured out how to post a shot of the actual results page, so I'm going to list the gene variants I DO have for now:
    VDR/taq +/+
    VDR/fok +/+

    MAO A/ R297R +/+
    ACAT/ 1-02 +/-

    MTRR/A66G +/-
    MTRR/11 +/-

    CBS/C699T +/+
    CBS/ A360A +/-

    SHMT/C1420T +/-
    NOS/D298E +/-

    To give some background:
    I decided to have this testing after recently consulting a new doctor who knows about MTHFR, but how deep his knowledge is, I'm not sure. I am severely hypothyroid, thought not w/Hashi's, and was put on Armour. He also prescribed progesterone cream for hormonal imbalance.
    My family disease profile includes cardiovascular issues, dementia, stroke, diabetes, and alcoholism. I have none of these at present, thankfully. My main health issues are osteoporosis dx'ed at age 50 (5 yrs ago), multiple chemical sensitivities and food intolerances (may include gluten 'tho I'm negative for the entire spectrum of celiac blood testing, for what that's worth), and the typical hypo profile stuff. I've had chronic depression and anxiety issues but gained weight on SSRI's and am now only on 25 mg. lamotrigine which I'd like to get off of.
    From the reading I've done so far here and elsewhere, I can see that the VDR variants probably explains a lot re: Vit D levels & bone density, right?? The CBS stuff, sadly, probably explains many of my parents' issues, I would think. I suspected sulfur issues right away because I can't eat or have tested allergic to onions, salad bar greens, etc. and can't drink (get intoxicated easily.) And the MTRR deals with B12, correct??? That might explain ongoing issues w/energy levels, I think.
    But now to deal with all of this. I have already read up on the various protocols incl. Yasko, Ben Lynch, the Heartsavers doc, and Rich Van, thanks primarily to reading this forum. And there's someone else, I believe. But my head is spinning and I need to prioritize. Also, while $ is not a huge negative, I can't afford the type of supplement regimen Yasko "recommended" with the test results. The doctor had already started me on the Lynch Active B12 lozenges, which I now take a full dose of daily with no side effects. Since I don't have MTHFR, I assume methyl B's are OK for me???
    The doctor I saw is out of network and has raised his fees prohibitively, so I will have to use him sparingly. Also, when I emailed him the link to that Heartsavers doc, he wasn't aware of it. I will have to ask directly who he "follows", but so far he's referred only to Ben Lynch's products.
    Should I also have the 23andme test, BTW, for the detox genes??

    I look forward to any guidance and suggestions and will be happy to supply more details as needed!!!! Blessings,
    Jeri L. Valentijn, LaurieL, caledonia
  2. Jeri Lynn WI

    Jeri Lynn WI

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    Hoping Valentijn or Caledonia might see this and offer their wisdom. I'm a bit overwhelmed right now and trying to gather bits and pieces from other threads. Thank you from the bottom of my heart in advance!!! :redface:
  3. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    You might try tagging them--like this: Jeri Lynn WI
  4. Jeri Lynn WI

    Jeri Lynn WI

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    Thanks, sushi!! Where do I place those, in the post itself or???
  5. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Jeri Lynn WI

    Put them in the post--if you like you can edit your original post or your second post and insert tags. Then they will get an alert, just as you are getting when I tag you.

    Sushi
  6. caledonia

    caledonia

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    Hi Jeri Lynn. I did pick up this post from the @ tag so I guess you did it right (it appeared in my Alerts).

    You have all three of the First Priority mutations, so I would start there. Those are SHMT, ACAT and CBS. The first thing is to actually make sure your mutations are expressed, so you don't waste time and money on things you don't need. Yasko (in Autism: Pathways to Recovery) and Heartfixer both mention tests and/or signs and symptoms to look for to see if the various SNPs are expressed.

    For SHMT you can take folinic acid.

    For ACAT, Yasko has an "everything but the kitchen sink" formula called ACAT/BHMT. I'm not sure if this would be appropriate for you or not because you don't have BHMT. Otherwise the supplementation for ACAT is pretty complex (like 8 or 9 supps). Maybe that's something that can be researched or asked about on Yasko's message board.

    For CBS you can check for sulfur by using urine sulfate strips ($30 from CTL Scientific). Yasko would also have you check for ammonia, because they both use SUOX to detox. I would suggest doing this in your case because you also have NOS which causes high ammonia (see NOS section below). You also say you have problems with sulfur foods so that's another clue that this is expressed.

    Now I'm confused because you've already started on sublingual methylcobalamin and are tolerating a very high amount (5000mcg). (I'm assuming you're taking the formula with just B12, and not the one with B12 and methylfolate?)

    Technically, if your CBS is expressed and you take methyl supps, it will cause a rise in cortisol and you'll feel anxious and stressed. So the idea is that you'll need to address CBS before you can tolerate methyl supps. So either your CBS is not expressed, or the Ben Lynch B12 is crap (which I doubt would be the case). Are you putting it under your tongue and letting it dissolve? Or are you swallowing it? This will make a huge difference in how well it's absorbed.

    Somewhere in here I would get a Metametrix GI Effects stool test, to test what's going on with your gut. Those with SHMT and ACAT are more likely to have gut issues. Some people would say treat the gut first. Yasko says sometimes you'll need to address SHMT and ACAT first before the gut will respond. So it's kind of a tossup. In general, food intolerances are due to leaky gut.

    Then you get to the Second Priority mutations, which is the meat of it. You don't have MTHFR, so you can skip folate. MTRR is B12 recycling. So that would indicate a need for for methylcobalamin.

    VDR taq impacts dopamine and also Vitamin D levels. So definitely get your Vit. D tested and supplement for that if it's low. That one is easy-peasy to do. This VDR in combination with COMT explains what types of B12 you can tolerate. You have the most generous one, so you can tolerate all three - hydroxy, methyl and adenosylcobalamin. It might be good at some point to add in some hydroxy or adenosylcobalamin so you're getting adenosylcobalamin too. (Hydroxy converts to methyl and adenosylcobalamin.)

    VDR fok is the one that impacts the pancreas and blood sugar, which may explain the diabetes in your family. You can do vitamin K, chromium, and watch the sugars in your diet.

    With a MAO +/+, I'm not surprised to hear you have anxiety/depression issues. Getting neurotransmitters back in production by taking B12 should help. This should also help with GABA/glutamate balance.

    I looked up your med, and it's not an SSRI, which is good. It works on GABA and glutamate. GABA is calming and glutamate is stimulating. A lot of times we have too much glutamate and that causes anxiety.

    I'm not sure what to suggest here, but psych drugs can be tricky. 25mg is the smallest pill they make. If you haven't had much of a problem tapering off so far, I would keep on going and get off totally. You can use GABA or theanine to balance out the glutamate until your natural balance comes back. At some point, methylation will restore your natural balance, and then you won't even need those supps. If it's not contraindicated to take both your med and GABA/theanine at the same time, you could use the supps to ease getting off the med. The safest thing, though, would be to get off the med totally, then do supplements.

    NOS is the one that can cause cardiovascular disease. Heartfixer is saying it will cause high ammonia, and to take vit C., methylfolate and BH4. That fits in with CBS, so you might as well do both ammonia and sulfur testing. BH4 is something you want to save until last, until you have all other aspects of the methylation cycle fixed.

    That's enough to keep you busy for quite awhile, I'm sure!

    I would suggest getting 23andme now, if only to get it at the $99 price. You can run the detox panel through geneticgenie,org if you want, but I would just more or less file the results away and not worry about them now. It's just too much to absorb all at once. If you're interested later on, Sterling Hill from MTHFRsupport has made a study of them. I haven't gotten too far into them myself yet.
    Valentijn likes this.
  7. Jeri Lynn WI

    Jeri Lynn WI

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    Caledonia, you are an angel for responding to me, and so quickly and thoroughly....although you do seem to be an angel with bad tidings. Having the 3 "First Priority" mutations sounds pretty serious.
    In the interests of keeping my post short enough to get someone to read it, I left out some more details. Yes, I already have gut issues, diagnosed with IBS, leaky gut, Candida, etc. in the past, and I DID do the Metametrix stool test with this doctor I mentioned. I haven't had the results of that yet, but because Ben Lynch advises to treat the gut first, I started with his Probiota powder and Saccharomyces B. No miraculous results, thus far. I have had C. Diff, a decade ago, after a viral illness.. So I assume the gut is going to be a major component.
    NOW: guess what?? I thought I was tolerating the Lynch Active B12, which is 800 mcg. metafolin and 1000 mcg. methylcobalamin, after working up to a whole lozenge, but I'm not sure after reading what you said. My anxiety HAS been worse lately, but there was a very real external stress (job/money) that I attributed it to. As for the lozenge, I do it sublingually, it's very soft & dissolves quickly, you wouldn't be able to prolong that.
    Yes, Vit D levels have been low-ish, last test in March was 28 & my 'regular' doctor put me on megadoses, which are D2 and I don't have much faith in that. I have an order for a re-test so I'll do that a.s.ap. Do you have recommendations for that, Caledonia? Just use OTC D3, maybe, if the 50,000 D2 hasn't helped??
    So I NEED B12, absolutely, but by itself right now??? To avoid that rise in cortisol? Do you have any product recommendations? The Yasko materials seem to suggest so many types & methods of delivery, including injection, I don't know where to start. Should I have levels tested or just presume it's low?
    The CBS/sulfur thing is what really freaks me out. I'm already basically afraid of food and have no idea what to eat-what's good for one thing, is bad for another. For example: I'm not much of a meat-eater, don't like it, used to be a full vegetarian. For protein right now I'm doing yellow pea/hemp protein powder (I used to use brown rice until all the arsenic warnings came out) but I was reading elsewhere on here last night that peas and lentils, two of my staples, are high in thiols. Heartfixer doc says no animal protein if you have sulfur issues, but I worry already I don't get enough protein. (Oh, think I forgot to mention I'm allergic to all dairy products, per an ELISA test years ago.) My hair started going south recently (drastic thinning) & I've been hoping the thyroid supp & hormones will help w/that, but I also thought I should try to increase protein. I struggle to get over 40 g. per day as it is.
    My plan at the moment, from what you said & reading things late last night, is to start on Zen for the anxiety & see the (awful) psych for the children's version of lamotrigine which comes in 5 mg. strength, to help taper off more easily. When I skip pills, I get vivid nightmares and more anxiety. As you say, if I can restore the neurotransmitters, that should help. I saw TMG mentioned a lot- do you suggest that at all? Need to look that up, is the "M" for a methyl??
    I already bought yucca when all this started & will take 1 at bedtime, for presumed ammonia issues, but will of course order the test strips,and get the urine test that includes ammonia levels. Do you have a preferred lab for that? Oh, and molybdenum!!!! Even before results from testing, I want to try that. I'm certain ammonia/sulfur are issues, given both my own health problems & family history.
    By the way, what is BH4?
    Caledonia, Amy Yasko's supplement recommendations that came with my results are pages long; if I were Paris Hilton, I'd take them all, but since that's not possible, how do you prioritize using her expensive products, particularly the RNA products which run around $100 per month? Would it be better to spend money on testing (as you suggested) to make sure what these genetic mutations are actually doing before investing in those pricey supplements? OTOH, the mere prospect of Alzheimer's, after living through that hell with my dad, is enough to frighten me into trying almost anything.
    Thank you again for your kind help, hope this post helps clarify my situation some. The tags were a suggestion, as you saw :)
    Anyone else, feel free to add any thoughts!!!!
    Blessings,
    Jeri
  8. Valentijn

    Valentijn Activity Level: 3

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    I can't read your post, so I'm reposting it with the formatting removed :p
  9. Valentijn

    Valentijn Activity Level: 3

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    Your MTR/MTRR problems are pretty mild (+/- in one of each), so you may not need methylB12 much, if it all. If you are having a reaction to it, you'd probably do fine with hydroxyB12 instead. You can slow down the dissolving process by sticking it under your upper lip instead of under your tongue.

    D3 is generally considered a much better option, and with your VDR problems it's probably a good idea. Any supplement store (including online) should have a variety of doses.
    I wouldn't worry about this too much. If are concerned, I think the best option would be to get sulfur test strips from the drug store or online, and see if you have an actual sulfur problem. Then you can worry about what to do about it :)
    It's a cofactor your body produces, and is used in creating some neurotransmitters. The usual treatment for a BH4 deficiency is BH4 supplementation and/or skipping the BH4-dependent steps in the synthesis of those neurotransmitters by supplementing L-DOPA and 5-HTP. BH4 isn't actually for sale anywhere, but folate, magnesium, copper, B6 and C help recycle it.
  10. Jeri Lynn WI

    Jeri Lynn WI

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    Thank you, Valentijn, I'll stop playing with fonts :) I thought I saw somewhere that BH4 is available by prescription, is that worth asking my doctor about? Are the L-Dopa & 5-HTP safe with my (assumed) sulfur issues? And as for the other supplements you mentioned, what kinds and amounts would I take? I have Liposomal C from Lynch, have only used it twice so far. Magnesium comes in so many forms- sitting here I have some mag malate left from my fibro scare/misdiagnosis last year (that's another story!!) I also thought B6 or P5P was not good with CBS, or only small amounts?? And is copper one of those elements you have to be careful with, too, so as not to disturb something else (maybe zinc? or boron?)
    I'm reading as many threads here as I can between Real Life matters, trying to get educated. I'm so grateful for all of you, as it would appear there are very few actual experts in all of this, and even they don't always agree. I much prefer horse's mouth advice from people who've been through something personally. Thanks,
    -jeri
  11. Valentijn

    Valentijn Activity Level: 3

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    If you do have a problem with BH4, it very well might not be serious. Simply recycling it better might be enough, or it might be just fine on its own. As far as supplementing, normal amounts should be plenty. If concerned, you could get levels of these things tested.

    I don't think L-DOPA or 5-HTP would interact with any CBS problems. The CBS issue comes from breaking down homocysteine via the cystathione pathway too quickly, and I don't think there's any overlap between that pathway and breaking down neurotransmitters.
  12. caledonia

    caledonia

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    First Priority is just Yasko's term for things that need to be done first before supplementing with B12 and folate. I don't know if it's really that serious, it just means you have some extra work to do before getting into the B12/folate part of it.

    I have an expressed CBS mutation - the stress feeling I was getting from B12 was pretty insidious. It felt just like I was having work/family stress, but there wasn't anything particularly stressful going on. I had tight, sore trapezius muscles, just feeling kind of stressed and overwhelmed, a little nervous, etc. Try discontinuing for several days and see if it eases up. It took about 3 days to clear for me, but I was supplementing with far less than 50mcg.

    Both my doc and naturopath suggested D3 for me. It's been working well for me. I take 5000 iu.

    Testing for B12 is tricky. The standard lab test can show either high, normal, or low and you can still be deficient. It's almost better to go by signs and symptoms. You can google for what those are, but MCS, anxiety and depression definitely qualify. If you find out the B12 is causing that stressed feeling, then hold off supplementing until you complete the CBS protocol.

    Meat doesn't have free thiols (which is more important to look for than the sulfur component). See the free thiol list: http://www.livingnetwork.co.za/chelationnetwork/food/high-sulfur-sulphur-food-list/. I used the free thiol list, kept eating plenty of meat, and simply took yucca to lower the ammonia. It worked fine - took about three months.

    It's common for vegans and vegetarians to get depleted in B12. Source:http://chriskresser.com/b12-deficiency-a-silent-epidemic-with-serious-consequences

    I totally get the "afraid of food and don't know what to eat" thing. Food allergies and intolerances make things really complicated. I use self muscle testing a lot so I know what foods are safe to eat. You can test as you're grocery shopping so you know what to buy or not.

    My suggestion would be to retry some meat. I'm not sure what your issue is, but maybe some real clean grassfed meat and also taking some betaine Hcl if your stomach acid is low would make it more palatable and easier to digest.

    Sounds like a good plan. You're probably getting into a withdrawal syndrome when you skip pills in an attempt to taper. This is a common problem with psych meds. Going down very slowly with consistent daily doses with the assistance of the 5mg pills should help.

    M does equal methyl - TMG = tri methyl glycine. TMG is for the secondary/shortcut methylation pathway, which is controlled by the BHMT SNP. You don't have that one, so you don't need TMG. Also it's another methyl donor, so it would increase stress issues from CBS, if that's what's happening.

    Lab for ammonia - not really. It was on my Nutreval test, so I assume Genova has one. Yasko also has one. I think it's part of an amino acids test.

    Moly is a good one. I'm still taking one drop (25mcg).

    If you look on the larger methylation cycle diagram (like on the top of the Heartfixer page), BH4 is a cycle prior to making some neurotransmitters and the MAO A SNPs. So, basically involved in mental health.

    Yes, I would make sure things are actually expressed, either by testing, or signs and symptoms. Read Yasko's descriptions in Autism: Pathways to Recovery. She has really detailed info there. For example, my sister has ACAT. People with ACAT can have gut problems, kidney stones, B12 deficiency, and ADD/ADHD type symptoms. She has all of the above, so we're going to skip testing and just do the supplementation. In some cases, it might not be so cut and dried, so some testing might be in order.

    As far as Yasko's supps, the RNA's are so expensive, I would save those for a last resort if other things aren't working. What I do is look up the ingredients of her supps, then try to find the same thing at iherb. Usually, I can find a good equivalent supp at half the price. However, in some cases the Yasko supp can be the better choice. For example, I'm using Yasko's B Complex because it's low in B6, which I need for my CBS mutation. I'm getting good results without using any RNA's so far.

    I hear ya on that. My dad had small vessel disease which produces a dementia and tremor syndrome that's like a cross between Alzheimer's and Parkinson's.

    The good news is we now know our SNPs and how poor methylation can cause dementia and what to do about it for prevention. So we're way ahead of the game. Too bad we didn't know this in time to help our parents...
    Valentijn likes this.
  13. Jeri Lynn WI

    Jeri Lynn WI

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    Oh, caledonia (btw: are you from my state, WI?? We have a Caledonia :)) it feels so much less scary to have you in my corner here, hope I can do the same for someone one day!!
    I have to make dinner so will read over everything more carefully tonight, but appreciate all suggestions/info. Will follow through w/Yasko Autism stuff, too.
    I tagged you in my GI test thread, when you get a chance, could you check that, too?? Just got those results & haven't figured out posting screenshots, file's too large to upload, but I have H. Pylori, for starters.
    Gratefully,
    JL
  14. roxie60

    roxie60 Senior Member

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    If I may ask, what strips are you using to test ammonia? A lot of knowledgeable people here. Understand the feeling of the support to help you feel a bit more confident dealing with all this, it can be overwhelming that is why I appreciate PR. When you need to feel some support and encouragement from folks who 'get it'.
  15. Jeri Lynn WI

    Jeri Lynn WI

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    Hi Roxie,
    I haven't decided yet, honestly. I know the Yasko strips are a lot more expensive, but as an information junkie, I know, too, that having more precise numbers would be more satisfying :(

    I DID decide to order yesterday from them the urine amino acids and essential elements tests. Amy is going to be off in July working on a book, but they promised me these tests can be turned around in time to have her comments on the results.

    I totally agree about PR; I have learned so much here already, "real world" stuff from people who have actually tried something, and the support- invaluable & irreplaceable.

    Hope to "talk" to you again, Roxie!!

    Jeri
  16. Jeri Lynn WI

    Jeri Lynn WI

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    I just wanted to add, on a sort of downer note, that what's really dfficult & discouraging to me is conflicting information depending on context: for example, coffee (which I love.) Amy lists it as being helpful, possibly. with H.Pylori, which I found out I have (see my thread in the Gut section), BUT it's a no-no for sulfur issues, such as with my CBS snp. How do you 'triage' everything??? I'm homozygous for some bad actors, as you can see in my sig, but my gut's a mess & everyone says that's the 1st priority.

    Or take EFA's...I've read forever how important balanced, top-quality EFA's are, & now I see in the Yasko materials not to use them every day, something about lipid issues which I don't understand yet. Crap. I seriously don't know how to navigate through this maze. Sure would appreciate wisdom about that!!​

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