Could a Genetic Mutation Be Causing My Infertility?

A month and a half ago, my husband and I had a phone conference with our doctor in Texas to discuss what the plan was, going forward, after our failed donor egg transfer. He told us he was going to order a barrage of blood work for me to test for clotting disorders, in hopes of finding an answer to my repeat pregnancy losses. I went to my local clinic to give six vials of blood, but they were unable to draw for the MTHFR lab, and I needed to get it drawn at a Labcorp instead.

"I don't know," I said in a don't-give-a-shit-voice into the phone to my friend in Texas, my legs thrown up on the top of the couch, my head hanging upside down from the cushion seat. "I really don't feel like driving all that way for that one blood test."

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"Are you serious?" she admonished, "The MTHFR is, like, the most important of those tests! You have to get that one!"

"Ughhhh," I groaned, intently studying the dog fur on the carpet. "Fine."

A week later, I fought the holiday traffic downtown, fought the other cars for a parking space in a lot pathetically too small for the popularity of the medical building, and got turned around twice before finally finding the tiny Labcorp suite within.

Goddamn, this test better be worth it, I huffed to myself, as I panted down the hallway to the door.

The tech drew one vial and snapped her gloves off cheerfully. "All done!" The entire process took three minutes.

Son of a bitch.

I have never in my life been so happy to have a mutation. The feelings I had seeing this message wasn’t much different than the day my husband and I found out our offer was accepted on the house we wanted.

Fast-forward a week and a half later. I logged into my clinic’s portal while on the phone with my same friend and saw a message from one of the nurses. I opened it and saw this as the first line: “Some of your labs have come back which have shown you have a MTHFR mutation.”

You guys. I have never in my life been so happy to have a mutation. The feelings I had seeing this message wasn’t much different than the day my husband and I found out our offer was accepted on the house we wanted. My friend squealed when I read it to her. I did this whole laugh-cry thing and made Chris open a bottle of wine that night. This is huge. This is so unbelievably game-changing huge.

So what does this mean? It means that my body doesn’t process folic acid as it should. The mutation is in 30-50% of the population and may make people more prone to blood clotting. Which in the pregnancy world, with blood flow being vital to the uterus and developing embryo—and later, fetus—is a crucial component that needs to be evaluated for a successful pregnancy.

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I know nothing is a guarantee, but what if this is what has been wrong the whole time? My egg quality, we know, sucks. But what if my two pregnancy losses were because of this? This mutation, present at my own birth, responsible for possibly causing clots in my blood that cuts off supply to my embryos, might be the reason for my infertility.

Seriously, this is huge. A prescription was written and sent to my pharmacy right before Christmas, called Folguard, which is basically a massive dose of folic acid, that I take twice a day. I’ve started on a baby aspirin as well and set up a conference call with our doctor to discuss exactly how this mutation changes the plan for our next cycle.

We'll see what happens next!