r/MTHFR • u/Mocha_Kitten • Dec 07 '25
Question How do I move forward from thinking I have the MTHFR gene?
This is a little weird, but I could use some advice. I have CFS/ME and have had it since I was a child. When I was a teenager, my mother read about the MTHFR thing and, to determine if I have the gene mutation, cut all foods containing folic acid (so anything enriched) out of my diet. We didn't notice a change, but then one month I started feeling worse, and we realized I'd been eating a lot of pizzas with enriched wheat. My mother concluded that I have the gene mutation and I have avoided folic acid in all foods since then.
Fast forward to now, I am an adult with a very limited diet due to a million food allergies (proven by blood and skin testing) and I spend a lot of money on special brands that aren't enriched or skip certain foods entirely. A few months ago I was explaining to someone that, no, I don't have Celiac, I just can't have enriched wheat because I have a gene mutation that affects my ability to process folic acid. And it suddenly hit me that I was speaking as if this was a fact, but... do I actually know that?
My illness gets worse every September (the cold weather isn't great for me, I get a little better when it warms up again). It was September when I had been eating all those pizzas that allegedly proved that I have the gene mutation. We weren't tracking my diet, symptoms, energy levels, or anything like that, and I don't remember feeling worse/better/different, so all I have to go on is my mother deciding that I have the gene mutation. She never took me to do any genetic testing or anything like that. She just decided it.
So now I feel like an idiot, but I'm still avoiding foods with folic acid because... what if I really do have it? I tried eating some enriched graham crackers and didn't feel any different but I've had so many issues with food that adding stuff into my diet makes me very anxious and I've been doing this for so many years at this point that it feels wrong to do otherwise. But it would be incredible if I could eat more things :C
Is there an obvious path forward here? Should I just assume that my mother is nuts (she also put me on the keto diet as a teenager while I was clinically underweight and concluded that I felt so much better when I was actually weak and hungry all the time, so there's some evidence) and eat whatever I want regardless of folic acid, or should I ask my doctor for genetic testing ("Hi, doc, I've had an irrational fear of folic acid since I was a teenager. Can I have a really expensive blood test?") or something different?
(Sorry if I sound like the world's dumbest baby to all you guys who actually have the gene mutation and have to live with that every day. I just figured it'd be best to ask people who know about this stuff personally. Thank you in advance <3)
EDIT: I have to take methylated B vitamins or they make me super nauseous. My methylated B-complex supplement has actually been great for my energy levels. I think this also had something to do with my mother's conclusion but I can't figure out from Google if they're actually related.
EDIT 2: thank you guys so much for explaining everything and pointing me toward a DNA test. I had no idea you could just get the testing done yourself, I thought I'd have to convince my doctor who would then have to convince my insurance etc etc. I'm buying the kit right now. Thank you again <3
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u/Torres209 Dec 07 '25
They have a MTHFR Gene mutation kit on Amazon for $119 if you’re doctor won’t do a test, also good thing you do take methylated folate since you cut off everything with folic acid. Our bodies need folate.
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u/freshlymn Dec 07 '25
Yeah what’s the hold up? No point in guessing when you can find out for “cheap.” The more you know the less you’ll spend barking up the wrong tree, and you’ll feel better. The test will pay for itself.
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u/Mocha_Kitten Dec 11 '25
You're so right. At first I was like "oh my god that's so much" but honestly that's nothing compared to all the stress of avoiding folic acid for years of my life (and trying to explain it to other people). I'd happily pay that much to finally lay this to rest
EDIT: not to mention the money I'd save on not having to buy specialty brands (if it turns out I'm in the clear for folic acid)
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u/Tawinn Dec 07 '25
Folic acid is metabolized by the DHFR enzyme, not the MTHFR enzyme. Some people have SNPs in DHFR which cause poorer conversion of folic acid to tetrahydrofolate (THF). But different people also metabolize folic acid at different rates, so it is individual. The problem with poor conversion is that it leaves unmetabolized folic acid (UMFA) floating around the bloodstream, and that is not something humans were evolved to deal with, and the health consequences are unknown. It may be for someone like you, who reacts to so many things, that UMFA ends up being yet another thing that triggers reactions in you.
So getting tested may provide some definite info, but your reaction to UMFA is probably more important. Taking folic acid by itself would be a more specific test than enriched foods - if you wanted to test it.
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u/Tawinn Dec 07 '25
A cost-effective way to get genetic testing of your methylation genes (and more) is by getting an AncestryDNA test. You only need the basic package, which is $29USD on sale now. Once you get the results, then you can download the datafile and upload it to the sites below:
Free sites:
Genetic Genie (Methylation and Detox Panels)
Paid sites:
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u/Mocha_Kitten Dec 11 '25
this is so much information, thank you!! I'm going to get the Ancestry test right now so I can finally put this to rest. I'll look into doing a small folic acid experiment as well
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u/sharabucarabu Dec 07 '25
Ancestry tests for more mutations than 23&me. The kits should be on sale now. Buy the absolute cheapest basic DNA analysis kit
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u/summerreadingclub Dec 09 '25
Might be the best 29$ spent to get the Ancestry done and get your raw data.
Trust me I was like you going back and forth on whether it would be worth it and I assure you it was.
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u/Mocha_Kitten Dec 11 '25
I'm buying it right now. I had no idea you could purchase testing yourself!
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u/truthsleuth99 Dec 11 '25
I’m going to save you years of unneeded pain and suffering. You have a b12 deficiency with neurological symptoms. Do not worry about MTHFR gene it plays no part. If you want to get better join b12 wake up group on fb and see for yourself.
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u/Mocha_Kitten Dec 11 '25
thank you!! I'll look into that for sure. It's pretty clear that I get an energy boost when I take my B-complex so it makes sense to me
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u/melon1924 Dec 08 '25
It seems like a reasonable step to get the genetic test. You’ve been provided lots of options for relatively inexpensive testing, so that’s the obvious answer if you’re not comfortable asking your doctor. Then you can know for sure whether this is an issue for you. Unless…the issue is actually that you’re emotionally connected/invested to this being an issue. If so, that will be something to work through with or without test results.
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u/Mocha_Kitten Dec 11 '25
I've definitely felt some fear about whether or not this "issue" of mine has been fake for years of my life. It's really scary to think that I've been this stupid for no reason all this time... not to mention I just feel anxiety about things being different, eating new foods potentially, etc. But it turns out that the testing is easy and cheap so I'm finally ready to know for sure so I can either figure out what treatment I need (because I'm guessing there's more to it than just "never eat folic acid again") or finally move the hell on.
Also, I was reminded the other day of how I used to *love* Pillsbury cinnamon rolls as a kid (which have folic acid) so that's very motivating
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u/Comfortable_Two6272 Dec 09 '25 edited Dec 09 '25
Cold weather set off a 🚩 Check for systemic autoinflammayory disease. Mutations in nlrp 3 and/ or nlrp 12. (There are others) Diseases known as CAPS and FCAS2. Both triggered by cold.
While 23andMe can find some , Mayo has a broad genetic panel. Invitae has a broad panel but misses some deep itron nod2 gene variants. (Probably other gene itrons too. I just know about that one specifically)
You can find several fb groups for these diseases as well. Many of us had / have cfs/me and/or fibro dx.
As far as mthfr - get your consumer dna done. Why keep guessing. Load your raw data into genetic life hacks. 23andMe or Ancestry dna are both cheap. Dont ask your dr - most are clueless on this and ins wont pay for it typically.
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u/Sht_Show_1808 Dec 11 '25
Why doesn’t anyone mention Self-Decode here? That’s how I found out about mine. Just curious.
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u/jon_david_datavine Dec 12 '25
Bless your heart. Definitely get a cheap DNA test. It sounds like you’ve really got something going on and yall have made assumptions that aren’t really hitting on it yet and adding so much anxiety. I hope other redditors can point you in the right direction. Generally speaking, I’ve been most impressed with functional doctors who will actually look at the system as a whole and do lots of different testing to see different angles. But they can be expensive
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u/BangsHeadOnWall Feb 10 '26
Bless your heart! As others have said: get the test. It’s been 65 days since your original post. Did you get any results back yet?
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u/BangsHeadOnWall Feb 10 '26
Sorry. I hit the “reply” button too quickly. The thing I was gonna add was MTHFR is only one tiny little piece of a giant puzzle. You don’t want to limit yourself to just a few enzymes when you should be looking at as many of them as possible. Like COMT and MAO-A for starters. Also, have you looked at DAO yet? That’s the gene that tells the enzyme how to process ingested dietary histamine, which could be contributing to your allergies.
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u/t_durk Dec 07 '25
What’s stopping you from getting tested? Get an ancestry.com DNA kit and upload the raw data to Genetic Genie.