Alright, it’s been a while since my first follow up appointment with my functional medicine doctor and nutritionist. Like I said in my last post, the end of the school year is insane, especially for teachers tasked with organizing senior events (prom, graduation, etc). Looking forward to posting much more regularly once I make it through this last week of school.

But, to recap:

  • Part I: I had seriously elevated levels of Candida in my gut.
  • Part II: I had walking pneumonia for quite some time now.
  • Part III: My gut is on fire, and I can’t break down protein properly.

I’ve been following the doctor’s recommendation (mostly) to work through these issues, and I’ve finished up the antibiotic and am two-thirds of the way through my anti-fungal, so hopefully we’re making progress…

Onto Part IV: MTHFR. This follow up is the most difficult one for me to write, partially because the result sucks, and partially because I don’t have a great understanding of it for myself just yet.

Basically, when I originally went to the functional medicine doctor, she indicated that she planned to test me for the existence of a specific genetic mutation. She indicated that if the genetic mutation was present,¬† I never should’ve been permitted to take oral contraceptives. I’m not sure if she suspected that this mutation could’ve been related to my cystic acne, but I was eager to get the test results done.

The results came in, and based on my untrained eye, I thought I was in the clear. The results did not come with any instructions, so I assumed everything was fine.

But, I was wrong. The first test result discussed during my follow up appointment was the results of my MTHFR blood test.

According to WellnessMama,


…An overly complicated way to say that the MTHFR gene provides the instructions for an enzyme involved in protein and B vitamin processing.

Even though the report came without instructions, I suppose I shouldn’t have assumed all was fine. Apparently, the report said “homozygous,” which actually meant that I had the MTHFR genetic mutation from not one, but both of my parents. So, both parts of my MTHFR gene are mutated, and not providing the correct instructions.

Also according to WellnessMama, “those of us with a MTHFR gene mutation have a highly reduced ability to convert folic acid or even folate into a usable form.” I should never, ever have been on birth control. Taking an oral contraceptive along with an MTHFR mutation has increased my risk of cancer, cardiovascular disease, and a ton of other issues that I can’t even look up without crying. I’ve been on birth control for nine years. Why was I not tested for this sooner? How is it possible that a simple blood test could’ve prevented this moment?

While I haven’t discussed all of the ramifications with my doctor, I did quite a bit of online research and found more information regarding the impact of this genetic mutation. Not that it is on the horizon, but based on my research, I believe it is likely that I will have a difficult time carrying a child (rate of miscarriage is very high) and that there is a greater likelihood for autism, down syndrome, and other developmental disabilities if I was able to carry a baby to term. Not to mention the 64 other issues that have been linked to this genetic mutation, but we won’t even go there…

So. The plan of action included first discontinuing my oral contraceptive (done). I also have to take a special multivitamin and vitamin b supplement specifically for people with methylation issues for “basically the rest of your life.”

Good times. I’ll keep sharing as I learn more. I have an appointment with my OB/GYN in June, and another functional medicine center appointment in July. This time, I hope to be able to articulate my many questions, instead of just trying my best to not cry.

Anyone else thinks we should rename this genetic mutation the mother fucker (MTHFR) mutation?

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2 thoughts on “Part IV: MTHFR

  1. I’m sorry you’re going through all this. It’s awful to feel let down by the medical profession. It sounds like this genetic mutation should definitely be renamed. When I saw the title, I instantly thought of that…


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