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So, if you have read the “About Me” page, you have heard a bit about my journey. Here is a quick recap. When I was 19, I was tentatively diagnosed with rheumatoid arthritis because I developed inflammation in almost every joint in my body. All my labs came back "normal" so the rheumatologist did not know what was causing this systemic inflammation. They prescribed medications and told me to eat better and exercise. I lived in pain until I changed my diet in 2018. I have lived with a mystery for why the inflammation has been plaguing my body.

Just this week, I learned so much about my own story by taking a genetic test. No, I did not do 23andMe and learn that my father was actually the milkman. The genetic test was for the MTHFR gene. Yeah, what the heck is that? Well, this is going to get a bit technical but stay with me.

MTHFR is an enzyme that converts folate into methyl-folate (which is essential for methylation). Methylation occurs in all cells and tissues in the body, working to protect the body by repairing damaged cells, processing toxins and hormones, metabolizing B vitamins, regulating neurotransmitters (like dopamine, serotonin, and norepinephrine), and optimizing DNA cell function. These neurotransmitters control mood, behavior, sleep, and overall mental health.

Are you still with me? The good stuff is coming.

Ok, so, methylation is very important for many bodily functions. Methylation also turns homocysteine into a product called methionine. Methionine builds proteins, repairs cells, detoxifies, supports your inflammatory response, and helps your liver process fats. Ah ha! There is a clue. The most potent detoxifier, glutathione is produced from methionine. And methionine is broken down by the liver into SAM-e (an inflammation fighting agent) that breaks down neurotransmitters and repairs cells.

Did you catch those clues? Are you still reading?


Anyway, for those who are still with me, lets talk about the MTHFR GENE (not the enzyme...the enzyme is controlled by the gene). The MTHFR gene has two areas that are checked for mutations, or more accurately “variations.” They are C677T and A1298C. Since you get a copy of each gene from each parent, you can have a few options for how your genes present themselves: no variants, one variant, or two variants in each gene. So, the more variants you have, the less efficient the MTHFR enzyme is at doing its job.

So, why am I so excited about genes and variants?

Because I am heterozygous for a variant on both C677T and A1298C! So, I got a variant copy on one gene from one of my parents at both sites! (It's the one in the middle with the one orange and one blue circle). Do you know what this means!?!?

This means my methylation pathway is working at 50% capacity. Woo-hoo! Does genetics get you excited, too? (Or is it just me?) If my methylation pathway is not working to full capacity, then my body is not efficient about converting folate, removing toxins, reducing inflammation, repairing damaged cells, and regulating neurotransmitters. When you are a poor methylator and you are eating a poor diet and you are subjecting your body to toxins and you don’t know you are a poor methylator, you end up with systemic inflammation, joint pain, obesity, anxiety, depression, mood swings…

I never had rheumatoid arthritis, but I now have an explanation after 22 years for why I had systemic inflammation. I have a plan for dealing with it and I have a plan for not poisoning my body anymore. I have a plan and I know the FOODS I can use as MEDICINE to heal my body. I also know which foods are acting as a poison to my body. I know the supplements I need to take to heal my body (like methyl-folate and methyl-cobalamin). I also know there are certain medications I should not take because of this genetic variant (including common medications used to treat rheumatoid arthritis).

Understanding the why; understanding the root causes of disease is so powerful! The symptoms are just clues to what is happening on a deeper level. Functional medicine is the key to understanding these deeper causes for why the symptoms are occurring. What is your why?

Contact me to set up a free 10-minute Introduction Call so we can start to investigate the underlying causes of your systemic inflammation and joint pain.

Are you ready to pivot to functional health and wellness? Are you ready to discover your why?

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1 Comment

Still processing some from the beginning, however it is kinda coming together. Very interesting 🤔!

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