The Results Are In

Drum roll please……..

It turns out I’m a mutant! Okay, okay, that’s just the way I find humor in all of this. I’m only a partial mutant.

I’ve always known there was something “off” in my body. I could never quite pin point it. The symptoms never seemed to match to anything specific. IBS, random swelling of my extremities, insomnia, anxiety, fatigue, knots in every inch of my body and terribly achy legs, etc. I’ve been referred to neurologists, physical therapists, psychiatrists, gastrointerologists and the most comical to me-a podiatrist. (for the swelling in my extremities, why of course-can you picture my eyes still rolling five years later as I write this?!) For the record, I never went to see the podiatrist. I may not be an MD but my common sense is pretty up to par. But never any real answers. I’ve had some lab work come back slightly off here and there but it’s always been a mystery to doctors as to why. I don’t hold it against them. Who would have thought these things were something caused by genetics?

Losing Jake seemed like an obvious answer to my OB team. His umbilical cord was very long and wrapped around his little body twice and also his neck twice. This was a freak accident in their opinion. Then I lost Hope six months later and we all knew it was time to look deeper into things. (Hope’s testing confirmed there were no chromosomal abnormalities) Thus began my journey of genetic testing.

On Christmas Eve I received my results. 3D uterine ultrasound-normal. (exhale) Ovaries-normal. (exhale) Pelvis-normal. (exhale) Babies-chromosomally healthy. (big exhale) Blood work-not so much. I am not sure I can explain my results very clearly as some of it is beyond complex and I am still learning all about it after almost two months of researching and processing. So I’ll keep it simple, mainly for myself.


I was diagnosed with two copies of the same gene mutation Methylenetetrahydrofolate Reductaste (MTHFR)-variation C677T as well a single mutation of Factor II-G2020-A, otherwise known as thrombophilia. Does your head hurt yet? Just wait…it will.

MTHFR (such an appropriate abbreviation by the way) is a gene that is needed for proper methylation to take place in the body. Disruption of this process can lead to hyperhomocystenemia in the blood. Basically, my body only takes in up to 30% of nutrients from food. Wow. So consider this- a diet that is not perfect or toxic free is lowering this number. This mutation causes defiecincies in B12, B6 and folate. These are necessary for essentially your entire body to be in sync as well as carry a healthy baby. My body does not process or absorb folic acid in the synthesized form. (which is in tons of foods, multivitamins, prenatals, etc.) Poor folate is the number one reason for neural tube defects in babies including spina bifida and ancephaly. To understand more about this, as it is MUCH more complex than this-you can  check out and learn from my newest medical crush, Dr. Ben Lynch. His knowledge in this field blows my mind.

Thrombophilia is most likely the cause of my recurrent miscarriages. Thrombophilia increases the risk of developing a blood clot by 3 times that of the normal population. Since pregnancy automatically increases the chance for blood clots, having this mutation works against me in pregnancy. This can cause clots in my legs, placenta, umbilical cord (anywhere really) and puts me at an increased risk for a pulmonary embolism. (a blood clot in the lungs) In pregnancy, thrombophilia increases the risk for stillbirth, placental abruption, pre-eclampsia and fetal growth restriction. This mutation effects about 2% of the caucasion population. I always knew I was special. (wink)IMG_2536

What a mouthful. It has taken me some time to process this information and accept it. I’ve been fortunate to not have had any detected DVT’s (deep blood clots in my legs) through a recent PVL study which is a big relief. If I ever develop one, I will be on automatic anti-cogulants for life per my hematologist. For now, just daily aspirin. On top of all of this-my new reproductive endocrinologist feels my increased prolactin level (have had this for years) may be causing me to ovulate less frequently than normal. I am still waiting on a few more blood tests for that and a thyroid panel but those are easily treatable with medication.

So what does this mean for us? Well, after a few months of physicians putting their brains together and trying to determine if pregnancy is a safe route for me and a baby-they have finally given me their blessing! Of course it’s not that simple. If/when I get pregnant (which is a journey in itself) I will need extreme close high risk monitoring, injectable blood thinners, additional progesterone, folate therapy and an abundance of ultrasounds, testing and a scheduled delivery to decrease my risk for hemorrhaging. BUT, they are confident and rooting us on.

So how do WE feel?

That is a loaded question. Terrified, relieved for answers, excited for the futue and so, so disappointed it has taken this long to figure things out after losing four babies. A simple blood test. I can’t even let myself get stuck in these thoughts because then I begin to replay all of the should have, could have and would haves in my mind over and over again. A new friend who has a very similar story to us reminded me that knowledge is power. So I am choosing to feel powerful. I can actually DO something with all of this information.

We are not quite ready to try again yet. My heart needs more time. My body needs months of balancing these issues out to prepare for a pregnancy. My mind needs time to wrap my head around being pregnant again. We need to continue building our baby fund for the ridiculous expenses of fertility treatments and high risk monitoring. Although this is good news-it doesn’t take away the heartache we have experienced.  It doesn’t take away the fear that things can go wrong-again. Pregnancy for me is no longer enjoyable-it is a process that I just focus on getting through so I can get to the end result which is the hope of a breathing baby in my arms. I need time to reframe my thoughts and fears because our minds are so powerful and play a huge part on what our bodies do.IMG_2534

But the bottom line is that we have answers and we have hope. And hope is a gift that I will never take for granted again.

We ask for your prayers for my body to respond to easily and quickly to the supplements needed to help bypass this MTHFR mutation. I’ll be following Dr. Ben Lynch’s protocol with the blessing of my medical team. I am grateful they are so supportive of me taking this natural approach for this process. We also ask for prayers for our heavy hearts as we are approaching Jake’s first birthday in heaven very soon. And prayers for a big family and no more babies to reach heaven before earth.

Thank you hopeful readers. Your support keeps us fighting for our hearts greatest desires.

“Know that wisdom is thus for your soul; If you find it, then there will be a future, And your hope will not be cut off.” Proverbs 24:14







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