what the mthfr

My doctor's office finally called with the test results. My doctor's appointment was last Monday and she had said it would take about a week. So when Monday, Tuesday, and Wednesday came and went, I started to freak out get a little anxious. Luckily I had a rare busy start to the week at work so it wasn't always at the forefront of my mind. But sitting in the Student Center on my lunch break eating Chick-fil-a and listing to an NPR podcast about gun control (the perfect balance of southern liberalism), I finally got the call.

I tested positive for the mthfr genetic mutation.

They wanted me to make another appointment to comeback and discuss the results and what happens next. Part of me was almost glad to be in a public place when I got off the phone. It forced me to swallow that lump forming in my throat, blink away the tears forming in my eyes, and just overall stop myself from slipping into an afternoon of full-on feeling sorry for myself and crying. There was a fleeting moment where I decided I would the scenario played out in my head to go back up to the office and ask if I could take the rest of the afternoon off so I could go home and cry about how horrible my life is while my puppies console me for personal reasons. But that wouldn't have worked. We're still keeping all this baby talk top secret. I'm constantly afraid of raising suspicions. What would I have told my boss? That while she's in the midst of fighting HR to give me a promotion, I'm plotting to get knocked up and take 5 months off for maternity leave and now I'm upset because I just found out I have this stupid genetic disorder that no one's ever heard of but can seriously complicate things so I need the afternoon off to cry about it? Not sure that landing would have been much smoother than the Hindenburg's.

While we're talking about horrible, fiery crashes, I think one of the things that makes ttc-ing so dreadful grueling draining cruel trying (pardon the pun) is that many women have been on birth control the better part of a decade. Our hormones have been on lock. What happens next is the perfect storm of out of control hormones, emotional roller coasters, and frightened hiding in the corner alarmed husbands who have no idea their wives were capable of displaying such borderline bipolar behavior. You take us off hbc (hormonal birth control), and all of the sudden we're experiencing these huge peaks and valleys of estrogen, and progesterone, and all the other hormones that I should know more about while at the same time going through ttc, staring down our fertility and all the setbacks that can come with it. Just as timing should have it, my handy-dandy tracker app says only my second af since getting off hbc should come tomorrow, so I know I'm holding back the pms-ing. I can barely cope with one of those two things and you want me to embrace both crazy hormones and the excitement and setbacks of ttc at the same time? And you want me to do it with grace and poise and in secret? Que old joke about having beach front property in Arizona to sell you. Though, I will say that at least this time I handled things pretty well all things considered. <pat, pat, pat> Only minor amounts of sleep have been lost and tears been shed. I think chocolate cake is in order. And I will credit you, my completely anonymous, non-existant readers, for indulging my therapeutic ranting typing.

So what's next?

Well I have my follow-up appointment on Tuesday. Pinterest now allows you to create secret boards. My secret baby board has been filling up quite nicely with pins. Now I have a secret mthfr board. My obgyn does know about the mutation, but according to the interwebs, it's still a fairly new diagnosis and there is very little consensus on how it should be treated. Because many women are not diagnosed until after several miscarriages, I wanted to be as informed as possible about the what tests, medications, and preventative measures are out there now before I get pregnant. The dreaded mc would be very hard on my husband and me. I see this research as taking charge of my body! Huzzah!

What I've learned so far is that it wouldn't be a bad idea to have my homocystine, B12, progesterone, and folic acid levels tested. I also want to know what she thinks about having Danny tested. All of the problems I'm now predisposed to stem from not being able to metabolize folic acid. This can cause elevated homocystine levels, a vitamin B deficiency, and low progesterone levels. And those lovely things can cause blood clots and miscarriages (among a host of other bad things that just don't relate to pregnancy).  I'm going to ask her about getting on a special type of folic acid supplement. Apparently, it used to be common just to prescribe synthetic folic acid like Folgard. But my body has trouble metabolizing folic acid easily, let alone the synthetic kind. There are several new prescription medicines out there called Neevo DHA and Metanx that contain active forms of folic acid that are much easier for mthfr-ers to absorb. Your progesterone can also be low from a vitamin B deficiency, which can affect the follicle during the luteal phase and contribute to the risk of miscarriage. Finally, I'll talk to her about what sort of blood thinners I should be on now, while ttc, and when I get pregnant. (That's right when dammit.) From what I've read, she'll probably suggest daily baby aspirin now and we'll see about the Lovenox/heparin injections later.

I'm just trying to keep all of this information straight in my head. When I see my obgyn, I'm going for "conscientious yet informed patient" who really cares and is intelligent enough to talk medical jargon to some extent. I'm hoping I avoid being one of those annoying patients who comes off thinking she knows more than the doctor does. And with my shyness, I'll also have to push myself to speak up and not let all this research have been in vain. There's something else I have been too shy to tell her about, but we'll leave that for another entry. I'll spend this weekend researching and pinning some more and deciding whether or not my husband should come to the appointment for moral support and so that I don't have to try to accurately repeat everything my obgyn says.

Until then, chocolate cake.