Babies, MTHFR, V Leiden…Oh My!!

I fully intended to blog my way through this third pregnancy, and even had idyllic visions of reminiscing about my first two pregnancies at the same time so I could document them all at once. That hasn’t happened. I think I’ve vented about this on my blog before, but I’m having trouble thinking linearly. My thoughts seem to come in spurts, sometimes with no coherent order or rhyme or reason which does not make for well-written blog posts.

(My brain at any given moment:)

smashedEgg

Nevertheless, I have not given up. I’m not even half way through my pregnancy, so there is time to redeem myself. And I must add that I’m only now feeling confident enough to talk about it in public, due to recent losses, which I explained in a previous post.

Officially, I am about 17 1/2 weeks along. I’m pretty sure I’ve been feeling movement since around 10 weeks, but that early on whenever I felt something, it was more of a “I wonder if that was…” versus “That was definitely a kick.”

The last week or so, I have felt some definite kicks, one I felt with my hand on the outside of my stomach. Odd Miss T is beginning to make herself known, and that is a good thing.

Last night I told my boys that she could most likely hear them now, and that led to an explosion of excitement. (Need I say it got a little loud?) I was fearful of how my boys would handle the news of a new sibling. I thought perhaps my oldest one would exhibit stress in the form of anxiety, but so far their joy and enthusiasm has far exceeded my expectations. I do think my oldest may be giving my belly an odd glance from time to time, but who can blame him.

My Mutations

And now to some nitty gritty details.

On Facebook several weeks ago, I posted this picture and said “explanation pending” (or something like that):

sharps

Is that a Pringles sharps container? Why yes. It is a Pringles sharps container.

After two repeat miscarriages, insurance is now allowing some testing to be done. (You used to have to wait till after three consecutive miscarriages.) One of the tests checks the blood for clotting factors, i.e., issues with the blood that cause it to clot more readily than the next person’s. As my doctor explained it, the capillaries feeding the embryo/fetus in those early weeks are so small that a tiny clot can cause big problems. Before offering the test she asked if any of my family members have had problems with strokes.

Uh. Yes.

This is where my blood relatives need to take note. I won’t name names, but if you potentially share any of my genes (and there are a lot of you out there, you know who you are), you may want to have yourself checked out.

The results of my blood test indicated one Factor V Leiden mutation (heterozygous) and two MTHFR mutations (compound heterozygous).

Factor V Leiden

The Factor V mutation is easier to explain so I’ll start there. From wikipedia:

Factor V Leiden thrombophilia is a genetically inherited disorder of blood clotting. Factor V Leiden is a variant (mutated form) of human factor V that causes an increase in blood clotting (hypercoagulability). In this disorder, the Leiden variant (form) of factor V cannot be inactivated (switched off) by activated protein C, and so clotting is encouraged.

In other words, if you have this mutation you may be more prone to blood clots, but not necessarily. A lot of people carry the mutation, and while my hematologist said it doesn’t necessarily cause everyone problems, it’s apparently significant enough that from now on, if/when I have surgery, I need to tell the doctors beforehand so they can put me on post-op blood thinners.

MTHFR

My hematologist rattled off all kinds of info about the MTHFR mutation, 50% of which went over my head, thus it took me about four days of research to figure out what it all meant. There’s a lot of misinformation and/or incomplete information out there so it’s difficult to put the pieces altogether.

I found this blog post very helpful, and the author happens to have the same mutations as me, including the Factor V mutation.

And now for a short, in no way comprehensive genetics lesson.

Let’s take me as an example.

I have one MTHFR mutation at 677 and a second MTHFR mutation at 1298.

Everyone gets two pairs of chromosomes, one set from mother and one set from father. That chromosome is made up of a sequence of genes. Those genes are made up of even smaller segments, and geneticists have given those segments numbers. Any of these segments can mutate. My mutations occur at point 677 and point 1298 on the MTHFR gene.

The MTHFR gene is a template for the creation of the MTHFR enzyme. The MTHFR enzyme is important, particularly for pregnant women, because it helps break down folate into its bioavailable form.

The reason I was checked for the MTHFR mutation is because it can also, potentially, lead to blood clotting. So the experts thought. Well, now the experts think it doesn’t lead to increased blood clotting in pregnant women. To that I say, “That’s nice.” Blood clots or no blood clots, I find it irrelevant. Why? Because folate is very important in early pregnancy.

My hematologist prescribed Folgard, which is a megadose of folic acid, but based on my research I decided not to take it. This guy has done a lot of research exclusively on MTHFR. If you are interested in learning more, it’s a good place to start. It seems the recommendation to take megadoses of folic acid is old, and the new recommendation is to bypass the MTHFR mutation altogether and take the bioavailable form of folate instead. Rather than take Folgard, I opted to take a prenatal designed specifically for women with MTHFR mutations.

There’s a second reason I had misgivings about taking megadoses of folic acid. Recent research has shown that too much folic acid can activate precancerous cells.

Hmmm. I think I’ll pass.

Again, to those who might share my genes, I’d recommend reading up about the MTHFR mutations because it can have significant impact on health, especially in the long term, since, as we age, our ability to process folate slows down. If you are already impaired, it will just get worse with age.

There are a host of ailments associated with the faulty MTHFR gene, including depression, anxiety, insomnia, recurrent miscarriages, blood clots, cardiovascular issues as well as a host of auto-immune disorders.

Shew, that’s a lot

I hem-hawed about sharing this information online, since it’s personal medical information. However, I decided, ultimately, if it will help others, then I’ll do it.

Ironically, in my 20’s I knew something about my body just couldn’t “keep up” with the modern pace of life. Other people could live on fast food and still wake up with energy and a smile on their face. Not me. I remember eating frozen blueberry waffles one morning and feeling like I’d been hit by a truck afterwards, all the while wondering why I felt so horrible. But the “why” didn’t really matter. I just knew I had to change. It took me about a decade, but I drastically changed my diet and it’s made a world of difference.

Now that I’ve learned I have the MTHFR mutation (by the way…something like 1 in 4 people do…) I have a better understanding of why I can’t handle the Standard American Diet (SAD). And it’s a blessing really. Because if I could have gotten away with eating like that, I would have. Everybody has mutated genes, but even the most perfect genetic specimen will get very sick after years of consuming refined and processed foods. (Blech.)

Next Time

I could probably write another hundred paragraphs, but I better go to bed. Next time, I’ll talk more about baby stuff.

If you have any questions about the medical info I discussed above, especially if you are a family member, let me know. (Strokes run in the family. I don’t have to remind anyone of that.)

Until next time.

p.s. Oh! By the way, the sharps container. Because of the Factor V mutation (primarily) I’m on daily injections of Lovenox. I shoot myself in the stomach every morning. It’s not the most fun thing in the world, but I’ve been through much worse.

photo credit: tim ellis via photopin cc