Fertility results + MTHFR -- Say WHAT?

>> Tuesday, February 20, 2018

I got my results back from my fertility blood work. Well, I actually called to ask about it and was told everything came back normal and that I'd be getting a letter in the mail. And I did on Saturday. It detailed my results for a wide array of tests.

Anti-Mullerian. This is your ovarian reserve. For someone my age (34), the number should fall somewhere between 0.176 to 11.705. My result is 7.644, which is apparently solid, indicating a good number of eggs.

My thyroid test came back totally normal.
My ANA screen was negative.
Anti-cardiolipin antibody, Cardiolipin, APC resistance -- all great numbers.

The receptionist had said everything was normal, so I kind of breezed through my report feeling like I aced a test. And then I dug into the MTHFR results . . . where I did a double-take. I saw a pesky "ABN" meaning abnormal next to the MTHFR c.665C>T (formerly known as C677T) and the word "heterozygous" -- WHAT?

I thought everything was "normal" . . . but seeing an abnormal result did make some sense.

The doctor's note on the letter included with my tests said that he wanted me to start daily Lovenox injections upon seeing a positive pregnancy test. I was all sorts of confused but assumed maybe it was a broad protocol if you've had recurrent loss issues in the past. I had made a note to call about that, but when I saw the MTHFR mutation, I immediately realized why he had recommended this course of treatment.

Because I'm a mutant.

OK. Back up.

What is MTHFR besides looking a lot like "m*therf*cker"?

I first encountered it when I was searching to find out why I kept miscarrying. In different TTC boards, women would all be talking about getting tested for MTHFR. I saw it come up so frequently, and I had planned to be tested for it . . . and then got pregnant with Eloise. This time around, I decided to ask to be tested because it affects more than pregnancy.

MTHFR is an important enzyme in the body that helps convert folic acid/folate into L-methylfolate. When this enzyme function is compromised, it can crop up as a number of different health issues. A heterozygous result means that I have a mutation of one of the two genes. In short: My body has tremendous difficulty processing folic acid in vitamins, foods, etc.

Hetero is the "less severe" version, but it's still associated with recurrent pregnancy loss, neural tube defects, among many other medical issues. And according to my results, some 35 percent of European Americans may have this mutation. So, it's actually not that rare. It's just relatively new as something people are treating and discovering.

Side note: I was foolish and didn't check with insurance before asking for this test. I'm now worried how much it cost! But I suppose it was important, regardless.

If you're curious to learn more about this mutation, I encourage you to do research. I'm just learning more than the absolutely basics. The U.S. National Library of Medicine has a good overview. So does the Genetic and Rare Diseases Information Center. And here it is explained in plain English.

I have more to say on this topic, but I didn't want to go too deep today. I mostly wanted to say that I found something out that may have at least something to do with recurrent pregnancy loss. Losing three or more pregnancies in a row is like a 1 percent possibility. I've always wondered in the back of my mind WHAT was up with it. And it's something that still worries me going forward. And also because I could have passed it onto my kids.

I ended up meeting with my doctor yesterday, and I'll be sure to write more about that soon. But this is already quite long!

Do you have an MTHFR mutation? How has it impacted your life? Any suggestions?

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