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My head is spinning, please help me make sense of it all

Discussion in 'Genetic Testing and SNPs' started by yeswehave8, Oct 8, 2013.

  1. yeswehave8

    yeswehave8

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    First, hello all... my first post here, though I've read a lot.

    Super short version for me: I was diagnosed with MTHFR C667T about 8 years ago when pregnant with my 4th baby (was tested due to pre-eclampsia history). At the time I was told no hormonal birth control, to take aspirin for life and I was put on injectable blood thinners for pregnancy baby #4 and #5.

    Fast forward to the last 2 years or so. My health has declined tremendously to the point of chronic pain, chronic fatigue, multiple joint dysfunction, etc (lots more, but for brevity's sake...) Before losing health insurance, I had a partial work-up with my GP and a full work up with a neurologist (one working diagnosis was MS, which did not pan out). Neurology work up was negative except for severe bilateral CTS. I lost my insurance before I was able to get in with the rheumatologist (neuro suspected lupus, though my tests were always negative). Soooo, I started doing some research on my own and was surprised to see that my MTHFR mutation could be attributed to MANY of the symptoms I had been experiencing. I undertook an attempt at methylation on my own (I know, I know) about 2 months ago and its been a mixed bag, but mostly negative. Suspecting there was more to the picture (you think?!), I did the 23andme test and lo and behold, I have multiple SNPs.

    The more I read, the more confused I become. What is clear to me at the moment (I think) is that I need to address my CBS mutation first, so stopping my methylation protocol, and then go from there. Then I read elsewhere that one of my detox mutations makes it less likely that some standard CBS protocols will work for me. And apparently some mutations cancel out other ones???

    Please help me make sense out of this. Help me find a plan so that I can feel hopeful that I can do something.

    My homozygous mutations:
    VDR Taq
    MAO A R297R
    MTHFR C677T
    MTRR A664A
    CBS A360A

    My heterozygous mutations:
    COMT V158M
    COMT H62H
    MTR A2756G
    MTRR A66G
    BHMT-08
    SHMT1 C1420T

    On the MTHFR.net detox profile my homozygous:
    Detox: NAT2 T341C (I114T), SOD2, SOD2 A16V

    IgE: CD14

    Clotting factors: F11 (so I have Factor XI deficiency, right?)

    Methylation: AGT M235T/C4072T, CBS A360A, DAO (GG), All 3 FUT2 (what is this?), MAO A R297R, MTHFR C677T, MTHFS, MTRR-11 A664A, MTRR, SLC19A1 x 2, TYMS

    Mitochondrial: NDUFS7 x 4, NDUFS8

    Those are just the homozygous, I have a BUNCH of hetero ones, too. I can share those, but I am overwhelmed with just these!
  2. Valentijn

    Valentijn Activity Level: 3

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    yeswehave8
    The biggest implication from MTHFR C677T is that it reduces active folate levels to about 30% of normal. Did a doctor ever have you supplement methylfolate? Folic acid wouldn't help.

    Remethylation of B12 might also be a bit slow, but it doesn't look like anything extreme. It might help to take a normal multi-B.
  3. yeswehave8

    yeswehave8

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    No, back when I was first told about the MTHFR, they told me to take more folic acid, which is clearly not the right answer. I've been on Methylfolate and Seeking Health's multivitamin (among other things) and have had no change in my symptoms. If anything, I am worse off right now.

    My husband and I started a Whole 30 (paleo) 2 days ago, so I am hoping the dietary changes will help. However, I read on Dr Yasko's site that people with the CBS mutation should be on a low protein diet. I eat veggies, but am not a fruit fan, so if I eliminate all grains and keep it low protein, what do I eat?!
  4. Valentijn

    Valentijn Activity Level: 3

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    Yasko is wrong. CBS +/+ is the beneficial version, and there is 0 research showing any problems from -/-. There is absolutely no reason to change your diet based on your CBS SNPs.
  5. yeswehave8

    yeswehave8

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    Ok good, thank you! :) So the Whole 30 is a good thing (which is why we are doing it!). So what about folinic acid? CBS is a good thing? Does it offer protection or balance of all the other ones?
  6. Valentijn

    Valentijn Activity Level: 3

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    The forms of the B vitamins in the multi look fine, but there's also a ton of other stuff in it, some of which might cause problems. One thing is glutamate, which we generally have too much of to start with. Red wine extract might also cause a problem.

    With so many extracts added, there's also a risk that you're taking something you don't tolerate. Since coming down with ME/CFS, I now have a pretty extreme immune reaction to cranberries and broccoli (my body swells up), both of which are in your multi. You might not react to the same things, but there's a pretty good chance you'll react to something in it, when it has so many ingredients.

    Plus you need to take 8 pills per day to get 100% of a normal amount of methylfolate. With your MTHFR C677T you might need a bit more than you're getting, especially if you're not taking all 8 pills every day.
  7. Valentijn

    Valentijn Activity Level: 3

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    Folinic acid shouldn't cause problems, but it also might not be necessary if supplementing methylfolate anyhow. Basically folinic should be turning into methylfolate.

    Faster (+/+) CBS is associated with lower homocysteine, which is beneficial. The slower version (-/-) is a risk factor for various disease, probably associated with increased homocysteine levels.
  8. yeswehave8

    yeswehave8

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    should I be worried about sulfur/ sulfites, too? Or is that bunk?
  9. Valentijn

    Valentijn Activity Level: 3

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    No need to worry about them, at least no reason having anything to do with CBS.
  10. caledonia

    caledonia

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    You only need to treat CBS if it's expressed, i.e., you're having trouble tolerating methyl supps due to a stress/anxiety reaction. One person on here reported a head pressure instead.

    If you do have to treat for CBS, you can still eat meat if you do the Free Thiol diet. See the link in my signature.

    You need to get some B12 to go with the methylfolate or your body won't be able to make methyl groups from it. The B12 contained in a vitamin capsule, i.e. going by the route of your stomach, will only be absorbed about 2%, so it's basically worthless. You need to take a sublingual form or get an injection to bypass the stomach. Some people on here are doing sublingual capsules that they suck on. I prefer liquid drops held under the tongue for 30 seconds.

    For your COMT/VDR combo, Yasko suggests hydroxycobalamin, adenosylcobalamin, with less methylcobalamin.

    Some other pitfalls - not treating the gut if you have gut problems (people with SHMT have more tendency towards leaky gut), not taking the other B vitamins, and other co-factors, potassium deficiency on methylation startup. Starting with too high of doses or increasing doses too fast. Not having nicotinic acid on hand to stop methylation, in case of trouble. Taking the wrong dose of nicotinic acid (it should be 50-100mg).

    On the detox SNPs, SOD2 could impact the mitochondria and cause fatigue. A person on here reported significant progress by using Biotec Extra Energy Enzymes. Other than that, knowing about the detox SNPs isn't necessarily that useful, other than "eating your fruits and veggies and avoiding toxins" and explaining why you may have problems with certain medicines or caffeine.

    I would let your doc know about the clotting factor, especially since it sounds like you're already having trouble with that.
  11. yeswehave8

    yeswehave8

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    Thanks so much. I will let him know, assuming I ever get back in there. ;) It would explain many issues I've had with prolonged bleeding, especially after my babies. I'm not sure what they could have done differently, but it would have been nice to know.

    Off to look at the free thiol diet info. I did order some sulfur test strips. Will these be at all useful to me to clarify whether I have "gut issues" or is it simply to know if I have a build-up of sulfites?
  12. caledonia

    caledonia

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    Sulfur and gut issues are two different things. You need a stool test for the gut. I have links to a couple of them in my signature.

    You've had prolonged bleeding, but they want you on aspirin, a blood thinner? That just doesn't sound right.
  13. yeswehave8

    yeswehave8

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    I completely agree. They have always had me come off for procedures (dental, c-section), but the MTHFR and my higher risk of heart issues seems to be better off with the aspirin. Actually, I've been taking Nattokinase for the last few months, instead.
  14. yeswehave8

    yeswehave8

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    Ok, I got some sulfite test strips and just did a random sample and it was low (between 10-25). So what am I to assume from that, or anything at all? LOL!
  15. SickOfSickness

    SickOfSickness Senior Member

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    Seaweed, other sea vegetables, eggs (maybe mostly the whites), coconut oil (most eat this with a spoon, and it does not really taste like coconut), coconut milk, coconut water, maybe nut milks, avocadoes if you can, olives if you can, vegetables that are not commonly eaten, sauerkraut and other fermented vegetables, "pasta" that is made with vegetables.

    Paleo recipes such as: Baked goods made with coconut and nut flour. "Bars"/candy made with cocoa, shredded coconut, etc. And green smoothies where you "hide" some fruit (you would hardly taste it when mixed with spinach, avocado, butternut squash, etc).
    oh_noes likes this.

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