The Diagnosis: What in the World is MTHFR?!?!

Ok, I had to. The first time I saw this acronym I swore it was a bad word. You think so too!?!?! Why is that? The human brain is interesting. Why we see it as bad word is beyond me. I would think us Infertiles would see “MOTHER” first. Anyhow, I digress…

I’ve been diagnosed with this silly little acronym. A moment that will forever be remembered. I’ve always been told I was completely healthy and there’s no reason for the inability to get pregnant.

After speaking with my doctor for a few minutes, I hung up. And then teared up. I mean for the first time, I had at least a portion of an answer. It may not be all of the answer we need. But, it was a significant piece of the puzzle.

So, what is MTHFR?

I am still researching and probably will be for the rest of my life as new studies come out, treatments are found, etc.

First of all, it stands for Methylenetetrahyrofolate reductase. That’s [methylene-tetra-hydro-folate reductase] just incase you wanted to see it broken down to pronounce it. Don’t feel bad. I had to break it down, too.

The MTHFR gene is responsible for “triggering the production of MTHFR enzymes”. We have to have those enzymes in order for methylation to occur. Methylation is a metabolic process that turns genes on and off, amongst other tasks.

The MTHFR enzymes work on methylation of folate (also known as folic acid and B9) to convert an amino acid called homocysteine into other forms of amino acids. These other amino acids then work on various functions of the body.

So, when this gene mutation happens, the body is not able to utilize folic acid well, which means that several processes in the body are not functioning well either. It’s a domino affect.

Thoroughly confused yet??? Me too. 

Linked to Chronic Diseases

There are SO MANY chronic diseases and health issues that have been linked to MTHFR. In my case, I perked up and did a genuine jaw drop when I read the list and found these primary issues that have been chronic for me for years… 

  • Fatigue
  • Infertility
  • Depression & Anxiety
  • Poor Cardiovascular Health
  • Tongue Tie
  • Miscarriages
  • Evidence of High Toxicity in the Body (acidic body pH)/Body’s Inability to Detox Efficiently

Honestly, research the extended list. Cancer, fibromyalgia, Alzheimer’s, high toxicity in the body, addictive personalities, alcoholism, allergies, hypothyroidism, and so much more have been linked to this mutation. In pregnancy & children, it’s been linked to cleft palette, neural tube defects, heart defects, prenatal & postnatal depression. If you read through the research and find that you have much in common with what’s been linked, you need to get tested. 

MTHFR & Folic Acid/Folate

There are several variations of mutations you can have. I personally have a Heterozygous C677T mutation. One of the primary malfunctions that is caused by these mutations is that our body cannot process folic acid. 

Folic acid is the synthetic version of folate. Folate is the natural version. It’s that key ingredient at the start of every pregnancy. Last year, when we had our first frozen embryo transfer (FET), I was loaded up on the synthetic version of the stuff. Most people are these days.

Little did I know it was a waste because my body wasn’t utilizing it. There’s no way to confirm at this point, but there is a possibility that the miscarriage happened due to this deficit. Maybe not. It could still have been another reason (the doc had said it may have been a bad embryo but he wasn’t sure).

Things Start To Make Sense

MTHFR is a form of autoimmune disease and like many autoimmune diseases the protocol for treatment is primarily diet & lifestyle related. Unfortunately, there isn’t a “cure” for MTHFR. It is what it is. But, you can support your body through this dysfunction.

The neat thing in my specific situation is how God has been working all along. I’d heard it all the time — when it seems like nothing is happening, God is working behind the scenes. Well, here we are. We’ve been 12 years at this, I’ve been suspicious of a few chemical pregnancies and the confirmed miscarriage last year. All this looking like nothing is happening. Nothing good at least.

But, what I realize now, is that all these years I’ve been working to clean up my diet, reduce stress, use non-toxic cleaners, etc. that’s been God at work all along.

I went paleo not because it was a fad but because of the work of the Holy Spirit leading me in the way I should go.

It was God’s prompting that we changed our farming practices to grass-fed instead of conventional farming. It was His prompting that led me to eat sustainably produced foods. It was His prompting (and a little common sense research) that led me clean up my home and start using essential oils.

It was through a hard and fast gut check that I stopped using conventional wisdom (with the exception of IVF) and started seeing a naturopath.

I tell ya, I am pretty sure people think I am some kind of HIPPIE but there’s no room for negative thoughts like that when there’s proof in the test results. There is a real problem and the only way known at this time to support it is through diet & lifestyle. So, a hippie I shall remain, thank you very much. 

Be Your Own Advocate

And by the way, it was my naturopath that uncovered this little revelation. Not my OB/GYN. In fact my OB/GYN fought me on getting the test done (Naturopaths have legal restrictions on what they can and can’t perform. Bloodwork is one of those things.). But, thankfully, she’s a team player and was willing to let me do my shenanigans. When she called me with the test results, she humbly said Jil, this is why you have to be your own advocate.” #jussayn

To anyone who wants to poo-poo on the idea that naturopaths are quacks… you’re getting a nice little smack down from me today.

My body is sick and I want to help it. I myself was starting to doubt the effectiveness of everything I’ve been working to do and the direction the Lord was leading me in. Discouraged, I say!

But, through all of this, the Lord has given me a fresh dose of energy to keep going. To keep doing what I’m doing. To up the ante against this ‘MTHFR MTHFR’ and tell it whose boss…

In my next post, I will talk about the treatment protocols that I’ve been implementing and changes to my diet & lifestyle.

Related Links:

Navigating an Unexpected Health Crisis

3 thoughts on “The Diagnosis: What in the World is MTHFR?!?!

  • August 22, 2017 at 4:21 PM

    Love bug, I’m just getting around to reading. I’m glad you have some answers, and I love that you are transforming your life! I am too! From one acronym sister (PCOS) to another, I got you girl. And best of all, our Father has us!

    • August 22, 2017 at 7:02 PM

      I’ve been watching you too! It looks like you’ve been making some major changes to your diet these days and getting some R&R. It’s SO important with these stinky autoimmune diseases to get our diets & lifestyles under control. I am so glad God has given us knowledge and then wisdom to address our issues! <3

  • August 16, 2017 at 1:49 PM

    Knowledge is power and God is great. He has put these wonderful people in your life and is equipping you with everything you need to add to your (His) family!


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