Let's Talk About MTHFR.

MTHFR.

MTHFR stands for methylenetetrahydrofolate reductase, an enzyme that plays a key role in converting folate (vitamin B9) into its active form, methyl-folate. This process is crucial for methylation, which is essential for many cellular processes, including DNA regulation and protein synthesis.

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Some days I have trouble getting one leg to move in front of the other. In the mornings, I get the boys ready for school with sheer willpower even though it feels like every cell in my body is melting. Even in times of my cleanest eating and yoga twice daily, I've still never felt quite right.

My body's slow transition into daily pain and mobility struggles has been ongoing for a few years now. My coping skills were tested with each new symptom or new realization: spasms of the neck; fasciculations of the thumbs; burning pain in the mid-back; weakness in my legs, dysautonomia. They all gradually converged into one entity that existed all the time; I had finally come to recognize my symptoms were worsening in concert with one another. My suspicion that what I have is, in part, an abnormal response to physical pain, was especially challenging because, well, everything hurts.

2024 was a year full of despair for my physical form while fighting to prove that I am still capable in other ways.

In the meantime, I've tried to do the things:

I walk, but it's challenging

I eat fairly well, but I love sweets

I take care of my mental health, but my ACE score is 5

I take supplements, but sometimes I forget :)

I had to take more of my prescribed medication for the muscle spasms in my neck, ribs and right leg to go away. With my higher doses of gabapentin and methocarbamol and still experiencing breakthrough symptoms, I was making it through my days, but I was TIRED. "I can't go on like this", I kept thinking. At one point I spoke with the nurse practitioner at my neurologist's office and she gave me a sad look and encouraged I increase my gabapentin for symptom management (She was right, I was having symptoms and was being stubborn).

Idiopathic small fiber polyneuropathy.

Okay. That sounds...like my future is uncertain but okay.

To be clear, all of my physicians and specialists are lovely and supportive, my presentation was just...bleak.

I started getting IV infusions in hope of feeling better and found the cause of many of my problems by chance.

The IV B12 caused such a significant impact on me, I knew it meant something.

Thankfully, I had already known about the MTHFR genetic mutation, but I had never given it much thought when reflecting on my own symptoms.

Specifically, I have a compound heterozygous MTHFR mutation on the C677T/A1298C sites which means I have one mutated copy of each of these two variations in the MTHFR gene. It's considered one of the more severe mutations.

If I were to eat 100 mg of folate, I would only absorb 40% of it. Folate, also known as vitamin B9 or folic acid, plays a crucial role in various bodily functions, including cell growth, tissue development, and the production of DNA and RNA.

Let's talk about detox. I can't believe I'm even typing that word in a blog BUT I've looked down on the word when I shouldn't have. I learned that my body doesn't detox as well as others due to my mutation. Most of the information I've come across has encouraged me to live as crunchy a life as possible, which won't be too challenging because we already like a little crunch.

It’s been enlightening, as it explains a lifetime of struggles, but it’s also been an overwhelming amount of information to take in. 

I hope to share more as I learn more. I'll be experimenting with diet changes, exercise changes, and anything else that might help.

Thanks for reading!

~Megan

Please see the following video explaining the significance of MTHFR in your body.