MTHFR | curse word or explanation?

MTHFR…No, it’s not an abbreviation for a curse word…this time!

If you saw the abbreviation and did a mental (or audible) gasp/laugh, don’t worry I did, too!

Going into yesterday’s appointment, I was prepared to hear one explanation.

Sorry, but the tests didn’t show anything so we are going to have to dig deeper. We will start with x, y, and/or z.

That, however, was not what happened. It’s not that I didn’t do research; I just didn’t think anything would show up. See, for as long as I can remember any test to determine anything medical has always had to be repeated a few times or doctors had to dig further because tests came back inconclusive. I’ve never had one batch of testing that immediately give an answer. So when I heard, “Your tests show that you have 2 additional risk factors [aside from Raynaud’s],” I was surprised.

Because he is an Obstetrician (who had a lot of deliveries yesterday), we got our information between delivery update phone calls. I know it is normal, it was just a new experience. Anyway, we found out that I have 2 genetic mutations to the MethyleneTetraHydrofolate Reductase (MTHFR) gene and I tested positive on the Antinuclear Antibodies (ANA) test.

Huh?! Methyl…tetra-tase, what?!? Anna, who?!?

Yeah, my questions exactly.

Before I tell you about the rest of this appointment, this information does NOT replace medical advice. You should talk to your doctor and do your own research. Everything that I am about to share applies only to me and my circumstances.

Now let’s move on!

MTHFR Mutations

Basically, having these mutations means that I can’t properly process/digest folate into folic acid, which is important when trying to conceive and carry a human being. In order to try and get my body to absorb more folic acid, I will be bombarding my system with supplements, 2 Folbic pills once a day, bumping me up to a total of 5 pills per day. 

1 Prenatal Multivitamin + 1 Prenatal DHA/EPA +  1 Low Dose Aspirin + 2 Folbic

According to my HROB, I will be consuming 4x the amount a “normal” pregnant person will need. Hopefully, taking the Folbic will help to maintain any and all future pregnancies…fingers crossed!

ANA Positive Test

This test, when boiled down to its most simplistic form, detects if your body has any antibodies whose sole purpose is to attack your own tissue. Creating an autoimmune reaction.

This was my third ANA test and first official positive. Before being diagnosed with Raynaud’s, I was assigned a Rheumatologist who tested me in February and April. Both exams came back on the boarder of higher than normal. This result has led me to be tested every 2 – 3 months. This time, in July, the ANA came back positive.

Apparently, (again ask your own doctor), this test is tracks a reactive response, so they are testing me again in a few weeks to see if the result will be the same, sans pregnancy hormones. In addition to another ANA blood test, I will be doing a full panel for Lupus.

What does all this mean—big picture?

Of the six “categories” and 3 “subcategories” to look into, we’ve crossed off Lifestyle and Ovulation—and are now focusing on Immunologic Factors.

Genetics Factors                                  Lifestyle Factors                          Ovulation Charting
Anatomical Factors                            Immunological Factors              Ovarian Function
Antiphospholipid Syndrome           Hormonal/Metabolic Factor      Luteal Phase Testing

*      *      *

Don’t think I’ve forgotten about the list that I mentioned in last week’s post. I’m still working on it and am hoping to have it completed soon!

There will be a bit of time between this fertility post and the next, as the tests are scheduled for several weeks from now. My plan is to do the questions post and a fertility doctor organization post during the wait, so be on the look out!


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