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

Messages
16
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!
 
Messages
15,786
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.
 
Messages
16
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?!
 
Messages
15,786
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?!
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.
 
Messages
16
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?
 
Messages
15,786
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.
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.
 
Messages
15,786
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?
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.
 

caledonia

Senior Member
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?!

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.
 
Messages
16
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.

Actually I do believe that I have. It never occurred to me that it could be the vitamins! I have had a lot more anxiety and am much more tempermental than I've been in a very long time. I attributed it to my thyroid and possibly coming off of Cymbalta (which I was on for fibro), but its persisted. The evenings are especially trying for me, and I am not sure why.

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.

I also realize that I've been doing this part wrong. The SL takes SO long to dissolve, I usually end up chewing it and moving on. Clearly not the way to go. I order the Jarrow lozenges last night, so hopefully that will help. Still, I think I may address the gut first. (4-6 weeks?)


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

Hydroxycobalamin as in for cyanide poisoning? Weird! I've only been using the methylcobalamin, so probably not the bet there. The VDR part makes sense as I've a history of low serum D, though I was able to bring my levels to normal with supplementation.

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).

I've a very long history of gut issues. In fact, after reading that I'm at increased risk for Crohn's, I may get tested IF I ever get my insurance back. I was diagnosed with IBS at 18, though I've often felt like things have been missed (never had a biopsy or anything, just based on symptoms). For one, I am *rarely* constipated and tend to have chronic loose stools.

Leaky gut is a good explanation for many of my symptoms now that I look at it again. I have multiple autoimmune issues and chronic joint pain... actually most of the symptoms!


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 was taking D-Ribose only when I exercise, though I'm doing a trial this week of taking them every morning to see if it helps with my energy levels.

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

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?
 

caledonia

Senior Member
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?

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.
 
Messages
16
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.
 
Messages
16
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!
 
Messages
2,565
Location
US
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?!


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).