Proof that my genetics are full of craptastic mutations

Ok, ok, so here’s the scoop.

The miscarriage panel I had a few weeks ago? AKA, the lab work to see if I have some sort of clotting disorder that could be causing these chemical pregnancies?

The MTHFR lab to test for a genetic mutation?

The test I finally got after how many cycles of failure?

Gawd, enough question marks, bitch???

Want to know what MTHFR stands for? Methylenetetrahydrofolate reductase. Say it. Try to say it out loud. It will change your life.

So, I was tested for methylenetetrahydrofolate reductase.

See also: MTHFR

See also: MoTHer FuckeR that is possibly ruining my life and causing me to eat Hamburger Helper and ramen noodles because I can’t afford anything else because I’ve spent all my money on making babies.

Whew.

So. Here are the results. This article originally appeared on the Mom.com site on January 6th, 2015.

Proof that my genetics are full of craptastic mutations

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.”

“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.

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.

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!

15 Comments

  1. January 8, 2015 / 12:21 pm

    Welcome to the world of Lovenox 🙂 Also, make sure you talk to your RE about possibly needing to increase your B vitamins in order make sure all the extra Folic Acid is being absorbed. When they switched me to 1200 a day I also had to increase my B6 and B12 levels to compensate.

  2. January 8, 2015 / 12:40 pm

    It truly is a mother fucker. I have two mutations of mthfr and this is the furthest we've come in a pregnancy. I'm also on folgard twice a day. Taking baby aspirin and lovenox daily.

  3. January 8, 2015 / 3:17 pm

    That's exactly what I have as well..So sorry that you are having to go through this, but at least now you know what is wrong and the doctor can prescribe you with medications that can help you conceive.
    (www.athousandtearsathousandyears.com)

  4. January 8, 2015 / 3:18 pm

    Well, I guess at the very least, it's good to know. It's hard to know if this was the issue with the other pregnancies as embryo quality has also been listed as a potential issue, but at the very least, this is certainly important to know going forward. This seems to be pretty common in the IF community, and it's often not tested for until incredibly late in the game in my opinion. Why wait until 2+ losses to do a simple blood test?!?! Glad you're getting some answers.

  5. January 8, 2015 / 3:51 pm

    Good ol' MTHFR. I have compound heterozygous MTHFR Mutation…. It's a peach. I'm actually a little surprised they are giving you more folic acid. From my understanding of the mutation is you'll want a bio-active form (essentially folic acid converted back into methyl-folate) of mthyl-folate so that your body is capable of using what you're putting in. I don't know much about Folgard, so maybe it's already converted over to the form your body need to absorb. I'm so glad you got some answers and are being active in treating it! Oh and side note: I agree with the B vities too, if you can, increase those as well!

  6. January 8, 2015 / 4:50 pm

    You always manage to make me laugh even when you are writing about the not so fun stuff. I'm sorry your results came back positive for MTHFR, but maybe, just maybe this is the info necessary to help you conceive and stay pregnant! Please let it be so!

  7. January 8, 2015 / 6:51 pm

    Yay! I think! Isn't it so effed up how we end up hoping for something like this… Anything to tell us why!! And I'm just so glad that there are ways to turn this around for you!! Praying the new meds do the trick!! XO

  8. January 9, 2015 / 10:48 am

    I'm SO thankful you got this answer!! This could be a huge game changer and I for one, am hoping that it is. xoxo

  9. January 9, 2015 / 5:01 pm

    Someone on the What To Expect Trying To Concieve board had posted your story awhile ago and I have been following your updates ever since. I too was diagnosed with MTHFR after 2 chemical pregnancies. Thankfully I found a doctor that didn't waste anytime in figuring out what was going on. My mutation is Compound Heterozygous. When I was diagnosed I did all the research I possibly could and I have to agree with the above poster, Morgan. I switched from a regular prenatal with Folic Acid to an organic prenatal with natural folate. Our bodies can not breakdown the folic acid (synthetic form of folate) and it ends up getting stored as a toxin. My doctor wanted to put me on Folgard and I refused to take it becuase it didn't make sense to put an over abundance of what I can't process into my body. Like I said, I ended up switching to an organic parental, and supplemented with 400mcg of Methylfolate (folate already broken down), along with an Active B-Complex. You have to make sure it's the active form though. I also took anything that has folic acid out of my diet, as everything now a days is enriched. I will admit that was the most challenging. 🙂 My doctor also put me on baby aspirin which I take once a day. I know it's been a rough and long journey for you and your husband and I am so glad you finally have some answers. There are so many of us out there that are being diagnosed with MTHFR that go on to have healthy pregnancies, myself included. About 3 months after I was diagnosed I found out I was pregnant. I was on pins and needles waiting for that test to start getting lighter or to start bleeding, but thankfully my little bean finally stuck and will be here next month. 🙂 I am so hopeful for you and your husband! I will be praying for you and I hope you get your sticky bean soon!

  10. January 9, 2015 / 11:51 pm

    While I hate that there is a mutation, at the same time, I'm glad. Does that make any kind of sense? It means a problem, which means a plan and a fix.

  11. January 11, 2015 / 10:22 pm

    This is great news!!! I also have the compound heterozygous MTHFR mutations. I had one son through IVF before I found out (lost his twin and had a HUGE blood clot plus bleeding all through pregnancy…hello red flag!) I went on to have multiple BFN's and m/c before I got the diagnosis. They put me on the same stuff (Folgard, aspirin, with a prescription prenatal) and boom! It worked! Had my second son via IVF. 18 months later I had another baby from the same batch of embryos! So it definitely means something to me. Exciting!!!

  12. January 17, 2015 / 3:27 pm

    Wonderful news that they found out what was causing the problem. Unknown infertility really does suck. Hoping that for you this will really hope with your treatment and that you'll have a great outcome.

  13. January 19, 2015 / 3:36 pm

    Wow, I'm so glad they found a REASON! I have to admit, I cracked up at your interpretation of MTHFR–I totally thought the same thing when I heard about the disorder! I pray that you'll be able to get the treatment to overcome this quickly!

  14. January 21, 2015 / 7:41 am

    Ditto with the above. I'm happy to see that you have gotten an answer. Now you have a baseline on REALLY starting your baby making games.

  15. January 21, 2015 / 11:51 am

    I'm so glad that answers are happening and I have to say, when I saw MTHFR, all I thought was mother f***er too! Haha!

    Ashley
    The Mrs. & Co.

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