Where do I even start?  This last week has been torture.  I despise waiting…  ESPECIALLY when it’s the kind of waiting that is wrought with anticipation.  Remember that insanely LARGE amount of blood that I had drawn a couple of weeks ago?  Well, I finally got the results of that.  I don’t fully understand what it means just yet, but I am digging as deep as I can to learn, so bear with me as I try to explain it…


I was diagnosed with a compound heterozygous MTHFR mutation.  (No, It’s not an abbreviation for a dirty word, although it’s VERY fitting!)  I had some additional blood work done today to find out whether I will need to be referred to a hematologist or simply be treated by Family Care Dr.  There isn’t much information on it yet, as it’s still something that’s being studied.  One of the simplest blogs I’ve read that helps explain it is by Kate Powe, titled “From Infertility to Depression to Cancer.  Why you need to get to know MTHFR”  where she breaks it down into kind of an MTHFR for Dummies!  One way she describes it is – it’s a mutation of a gene who’s “role is to produce an enzyme that converts folate into the body’s bioactive form, methylfolate.”  She says “If you happen to have this genetic hiccup, it results in a defective MTHFR enzyme which leads to a substantial reduction of the enzyme’s function …  The impact that a faulty MTHFR gene can have on the entire body is so far-reaching, it’s considered to be linked to a host of chronic diseases, including: cardiovascular disease, clotting disorders and thromboembolism, congenital defects, recurrent miscarriage, neural tube defects, infertility, chronic fatigue, multiple sclerosis, migraine, anxiety, ADD, autism, cancer, diabetes, depression, schizophrenia, bipolar and addictions.”  (italics by me)

There are a couple of spots on a certain strand of DNA that this gene can mutate/copy.  Position 677 & 1298.  There are a few different ways that it can copy also.  Heterozygous means there is 1 copy of either the 677 or 1298 mutation from one parent plus a normal gene from the other, homozygous means there are 2 copies of the 677 & 1298 mutation, one from each parent.  Compound heterozygous (me) means you have one copy of the 677 mutation from one parent and one copy of the 1298 mutation from the other parent.

As it relates to pregnancy, it can cause blood clots, miscarriage, neural tube defects, pre-eclampsia, placental abruption, Down Syndrome, just to name a few.


Ok, enough of the science mumbo-jumbo…  what does it all MEAN?!  From what I can understand, it means that with this mutation  (side note: every time I hear that word I think of X-men)  my body can’t process certain things the way that it’s supposed to which increases my risk of risk of a variety of cancers, heart problems & all kinds of other stuff that makes it sound like the speed talking portion of the side effects on a medicine commercial!

So, as you can see, it’s a LOT to take in.  My head is spinning and my brain is on information overload!  Prayers for answers have not gone unheard, it’s just not what I was expecting – AT ALL!  Since it’s something that’s in my DNA, it can’t be “fixed” (yet) but it seems fairly treatable.  It seems through diet and lifestyle changes, the levels that this mutation throws off can be balanced, and therefore the side effects lessened.  I will be taking a low-dose (81mg) aspirin every day, and while TTC will be needing to take extra folate.  If I can get pregnant again,  it seems I will need to take – either by injection or pill – a blood thinner so as to decrease the chance of clots that may result in another miscarriage.  It really does explain a LOT of the chronic illnesses and such that I’ve dealt with throughout my life!

sick lady

We still have so much more to learn and honestly, it terrifies me.  But we’ve fought so hard to get where we are, that it would make NO SENSE to roll over and give up now!

In other news, with my period being the absolute latest its EVER been (7 days!) and being in some severe pain over the weekend, I had some blood work and an ultrasound done today that confirmed that not only am I NOT pregnant but I have yet another cyst on my left ovary.  After a complete level 4 breakdown in the OB’s office – which I feel bad about cuz they’re so used to helping women that are pregnant, that they don’t quite know what to do with one that can’t get there – I dried my tears long enough to make it home and collapse in a heap.  I started the medication that I am supposed to take for 5 days in order to bring on my period in about two weeks, only to discover that it only took one pill in order to make my aunt arrive.

This last week has been torture…  But answers are slowly coming.  I’ve felt so discouraged and broken.  Just when I feel like my heart might be mending, something comes along and shatters it just a little bit more.  I KNOW that God knows.  I know that He has a plan.  I know that I’m PROBABLY stronger than I feel… but dang it all if I don’t just feel so beat up lately.  I’m gonna pull myself up by the bootstraps and learn about what our options are for conceiving and exactly what the relationship will be for MTHFR & me.


8 thoughts on “MTHFR & Me

  1. Thank you for sharing your heart and I am so sorry to hear about this diagnosis. I really appreciate you educating us on this! This has been one thing that has come up for us too but it’s so hard to understand (literally, so confusing!). I loved how you explained it and am praying for continued wisdom on how to conquer it! Also, you ARE so much stronger than you think!! And God does had a great, mighty plan in all this. Loved reading this! Hugs!!
    IG @chels819

    • There are quite a few women that deal with this with pregnancy. The level of mutation determines the intensity of treatment throughout pregnancy. I’m glad your friend made it through and has a healthy baby boy!

  2. Noval Cox says:

    That all sounds like a pretty intense week and my heart is with you. Nothing I can say will make it better, but know that you are a particularly strong person and your faith will lead you through this. You have it in you and hope never dies as long as you keep trying. 🙂

  3. Hi, it’s Sara, new to your blog, not new to the infertility world 🙂 (I’m not good at the jokes, yes I still try lol) I’m sorry to hear about your diagnosis but hopefully this means that you are on the right path to getting your sticky bean. I know it seems like there are so many obstacles on our path, but think of what an awesome story we’ll be able to tell our kids down the road 🙂 Plus, each story inspires others going through the same thing to stay on the path, no matter how rough it is.

    • Hi Sara! Thanks for stopping by!! And thank you for the reminder of the awesome story we will have to tell our kids someday! I kinda hope to put all my ramblings into some semblance of a journal and give it to my child someday!! You are SO right about each story inspiring others that are on the same journey! I’ve never experienced something in my life where people can bond so quickly and effortlessly! It’s a sad connection, but strong, nevertheless! I’m praying that this will be the right path to a sticky bean as well! ❤

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