I’d like to lead you through a dramatic chain of events.
It all started back in March 2013.
I went to my primary care doctor for an annual check-up and came out with a million (ok, three) instructions. First, get an EKG. Check. Next, get an echo-cardiogram. Check. Lastly, get some routine blood work.
Now, of these three, which do you think would be most likely to be problematic?
Well guess what? The two (scary) heart tests came back normative. My blood work, however, indicated that I was low in folic acid and vitamin B-12.
“No big deal,” my doctor said. “We’ll put you on supplements to boost your numbers and retest you in a few months.”
So I’m thinking, cool, cool. NBD. I filled my folate script, picked out a nice sublingual B-12, dusted off my multivitamins, and got myself a pill organizer for the 400% increase in pills for which I was now responsible. Side note: getting older sucks. I mean, a pill organizer?
As it does, life moved forward, I thought little of my vitamins, and largely forgot to take them.
Flash forward to the summer of 2013.
One of my co-workers (our program’s nurse) catches me responding to my 1pm alarm on my phone—which pipes up every day to remind me to take the vitamins about which I otherwise forget. Side note again: I’ve come to find that getting older is about delegating your responsibilities…largely to inanimate objects.
So said co-worker, who happens to be a midwife and naturopathic doctor, asks, “What are you taking?” And like a proud mama, I pull out my pill organizer (guhhh, age), and introduce her to each supplement and my reasons for being on them. The next part went something like this:
HER:
Oh, you are on folate and B-12 because you were low in your blood tests?
ME:
(all excited from introducing my new vita-friends)
Yup. My doctor wants me to boost my numbers and retest soon to see if I am back in the normal range.
HER:
Okay. But I think you should also ask to get tested for the MTHFR gene.
(I would like to note here that this gene abbreviation looks a LOT like an abbreviation for “mother f***er. I don’t think that’s sheer coincidence.)
ME:
What is that?
HER:
It’s a gene that produces the MTHFR enzyme. The enzyme’s job is to convert B vitamins into their activated forms. Sometimes the gene undergoes a mutation in some people, so they can’t catalyze the vitamins.
ME:
(way less excited now)
Oh, so…if I have it, is that bad?.....Am I going to die?
HER:
(I’m not making this up)
Just Google it.
ME:
(in my head)
Holy f-ing shit. I’m dying.
So, because I am totally devoted to my health and well-being, I do what ANY invested person would do. I DON’T GOOGLE IT. Why the heck would I willingly want to research why I am dying??? No, thank you. I’ll stand behind my beloved leader—DENIAL.
Now flash forward to two weeks ago.
I switched OB-GYNs (special shout out to all my gentlemen reading!!! ) because my old one sucked—case and point, one time, she only did a breast exam on ONE boob (hey again to the fellas!!!). What a hack job! So anyway, I was in the market for a new lady doctor, and found myself a local midwife with tons of background in holistic medicine, nutrition, and…yeah…lady bits. All things that are perfectly aligned with my own personal philosophy on wellness.
So I made an appointment, and went in for my initial exam. Because my doc believes in a integrative approach to medical treatment, she asked me to bring along all lab results, previous medical records, and all medications/vitamins/supplements I was taking so she could formulate a complete picture of how messed up I ammy medical history. Sweet!!! Another chance to introduce my pill organizer to an unsuspecting victim!
Low and behold, once she meets my blood work results and my folic acid/B-12 pills, she recommends I get tested for the MTHFR gene mutation. Along with a follow up check of my thyroid, all B-vitamins, and vitamin D.
Can’t dodge fate, I guess.
So I finally yield. I take my paperwork to the lab and resolve myself to stare death in the face (Spoiler Alert—this is an extreme overreaction). The MTHFR test is actually incredibly simple, and is accomplished through a blood test which is then analyzed for a mutation. After the SEVEN vials they drew for the other orders, I walked out of there—what seemed like—a pint of blood lighter.
Flash forward to present day.
Well, actually, Wednesday.
I went back to my lady doctor to bite the bullet. Good news!!! Your pap smear is normal! Bad news!!! You have two copies of the MTHFR mutation!
Well done, doc. I see what you did there.
So yep, it’s true. I’m a mutant. An MTHFR homozygous C677T mutant, to be exact.
Now let’s get into the nitty-gritty details. Needless to say, I have been doing a lot of research about MTHFR over the past few days, and I’m still coming to understand what the gene and enzyme do, as well as the effects these mutations can have on the body and the individual. Unfortunately, this mutation is a recent discovery in the medical field, so it is hard to come up with a conclusive list of symptoms I might have (unknowingly) experienced or a list of definitive risks associated with my particular brand of crazy. But here’s what I have come to know.
How did I get it?
I’d like to give mad props to my parents. Only 1.5-15% of the population has my type of mutation, and in order to have it, an individual must get a copy of the mutated gene from each parent. This means that despite the fact that no less than 75% of the population has healthy MTHFR genes, my parents managed to find a like-mutated partner out of an incredibly large pool of healthy people. You guys are genetic rebels. Rock on.
What are the effects of the mutation?
This mutation is not life-threatening by any means. But I do have trouble converting the B-vitamins in food and supplements into the activated forms needed by the body. Left untreated, this puts me at a higher risk for cardiovascular issues—like coronary artery disease—since it’s the job of B-vitamins to protect you from that sort of stuff in the first place. Additionally, B-vitamins play a huge role in the healthy conception and development of ‘ze behbehs. So if I ever decide to bless the world with my spawn, I’ll need to make sure my b-levels are super healthy to avoid miscarriages and to safeguard my kiddos against spina bifida or other neural tube defects. Unfortunately, it’s basically guaranteed that I will pass this mutation down to them, since I have more than enough copies to go around.
What’s the treatment?
Well, instead of taking run of the mill vitamins—which you can purchase basically anywhere—I’ll have to do something insane. Read the labels. I need to make sure that any B-vitamins in my supplements are in their activated form—or in fancy speak—are methylated. This has proven a bit tricky in both regular grocery and health food stores over the past two days. So instead, I’ve decided to order off of the internet from a company suggested by my doctor. They should arrive in the next four days, and I’m curious to see how I feel once I start taking them. Maybe I won’t notice any difference. Maybe I have been experiencing symptoms from this mutation all along, but just didn’t realize it until I took the right supplement. Maybe I’ll feel worse. Any way you slice it, only time and swallowing pills will tell.
In the coming weeks, months, and years, my research will continue on MTHFR. In the end, I’m just glad I know about it and was encouraged to get the test despite my “better” judgment. Thankfully, I’ve learned about it now, while I’m still young (in age, not at heart) and prior to wanting to start a family. I’m also glad to be the guinea pig for my family, so I can inform them of my situation and encourage them to get tested as well. So watch out, world. We mutants are taking over this MTHFR.
See what I did there?
Happy Holidays, Everyone!!!
![]() |
| Me and Grumpy Cat. Both have grumps. Both have mutated genes. Soulmates Forever. |













