Tuesday, July 12, 2016

I am a Mutant

(totally unrelated, but this is one of my favs from our trip)

Okay, so I'm not actually a mutant, but I did just find out recently that I have some mutated genes (but who doesn't, amirite?).

For a long while now I'd been hearing about this gene mutation that is thought to maybe, possibly be linked to unexplained infertility, but is still pretty subjective in the medical community (at least in my medical community).

After doing a few failed rounds of fertility, Dillon and I wanted to take a break from treatments and focus more on seeking a diagnosis again. We did a follow up with our fertility doctor where we asked about more testing and brought up this gene mutation, but besides checking my egg reserve to find out how much time we have left before getting aggressive with treatment (AKA IVF), she wasn't interested in pursuing things. She recommended a few more medicated IUI's and we said we'd probably get to those after we got back from our trip.

But we left determined to look for more answers. We really felt like there had to be something going on that was being missed and felt compelled to keep digging. We thought of maybe switching clinics, but we knew a primary care doctor would be a bit more likely to do some testing so we called around to finally get established as patients somewhere, and four months later we finally got in. We asked to test for anything and everything health wise, but specifically for the MTHFR gene mutation and thyroid levels.

What's the MTHFR gene mutation, you ask? Based off my super thorough internet research (ha), it basically means that the mutation makes it so that the body does not create the enzyme needed to break down certain vitamins, causing those vitamins to not be usable, as well as "clogging up the system" so to speak. Even though that sounds like such a small thing, it actually has a lot of far reaching effects and is thought to cause problems with implantation and increases the risk of miscarriage, and those are only the fertility aspects!

A few days after testing we got my thyroid results back, along with all the regular blood tests one gets at a physical, and everything was completely, middle of the board normal--which is super great. We knew we'd have to wait a little longer for the MTHFR results, but they came in sooner than expected. I wasn't really sure if I would have any mutations based off my research, but I wanted to at least KNOW, you know?

But, turns out I have two separate mutations (one in the C677T location and one in the A1298C location--the two most common, but not as common together, I guess), giving me a compound mutation that can effect much more than just having one in one spot. It was weird because I didn't want to have anything wrong, but finally knowing something was so new and surprising, and strangely satisfying. In the note the doctor sent she said she wasn't worried about causing any problems, but that at least I knew.

I immediately called my stepmom, Teresa, and told her we finally had a bit of info! And wonder of wonders she actually knows and works with a doctor who specializes in the MTHFR gene mutation (like one of the top three around the world), and that they happen to be friends, so she would ask him what to do (since my doctors both thought it was subjective enough to dismiss)! A couple days later she called to say that he said he had some medicine to put me on that would definitely help, but that he was out of town so she could just go get it from his office. How great is that? So she snagged some and sent them ASAP.

I've been on them for about 2.5 weeks now and I've been feeling great. I feel like I detoxed for a few days, but since then it's been great. I'm less tired, I've had less "adult acne" ha, my digestion works better, I'm less bloated (ha, big plus because it sucks when you look pregnant when you are most definitely not--no ammo for the speculators!) and overall I feel better. It's crazy what vitamins can do for you when your body actually uses them ;)

Anyway, we have high hopes for the next few months!

2 comments :

  1. Yaaay!!! I'm so glad you finally have some answers! That must feel like such a relief to know the situation and to have a path of hope. Here's to hoping for more good news in the future. We will keep praying for you two!
    And I do miss your blog posts. I realize you're too crazy busy to be blogging about delicious and beautiful food, and that's totally okay. I just thought you would be interested in knowing you and your talent is appreciated. :)

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  2. Hey there. I don't know you, nor do you know me but we have mutual friends so your blog popped up on my Facebook feed and I browsed some of your recipes and posts. I just got diagnosed recently with the MTHFR mutation as well and I was wondering what medication you started taking??
    I am also so sorry for your recent loss. Your blog post shows you are so strong.

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