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You Don’t Know What You Don’t Know Until You Find Out You Don’t Know It – MTHFR Genetic Mutations &a

MTHFR Genetic Mutations & Autism | Living Your Best Healthy Life

Several months ago, I was approached on Facebook via private message by someone I had helped with some diet information specific to her illness. Her new message to me was, “I just found out that I have the MTHFR gene mutation. What should I eat for that?”

MTHFR gene mutation? I’d never heard of it and I didn’t want to look like an idiot so I said something to the effect of, “Not sure right this second, will do some digging and get back to you.” Facebook is ALL about saving FACE. ♥

As promised, I started doing some digging. What I found blew my mind.

I really don’t want to do this an injustice as it is very complicated, but the short and sweet of it is: MTHFR stands for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase).

The function of the MTHFR gene is simply to produce the MTHFR enzyme. However, if the MTHFR gene is mutated, the enzyme produced is not entirely correct.

The MTHFR gene is responsible for making a functional MTHFR enzyme. If the MTHFR gene is slightly altered (mutated), the MTHFR enzyme’s shape becomes distorted. Enzyme function depends a lot on shape. It is similar to the grooves on a key. If the grooves on a key are slightly different than the lock, the key may fit and turn the lock a little but it does not unlock the door.

The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.

The above sounded interesting, and a little like ‘Greek’ to me. The part that got me REALLY looking was when I saw the potential health conditions associated with the mutation – and they read like my family medical tree. The thing that especially piqued my interest was reading the conditions of: autism, anxiety, and depression.

I don’t often share a lot of information online about my son, Jack. Jack is 10, the youngest of my three sons, and I found out in January of 2013 that he had Aspergers. The diagnosing doctor told me it was “subtle, but definitely Aspergers.” Aspergers is now just simply referred to as Autism.

As a mom, you don’t go into an appointment like this not already having a good idea as to what the outcome is going to be. I wasn’t shocked by this confirmation of something that I already knew. The weird thing that surprised me was immediately thinking upon hearing the word “subtle” was in knowing to my core that if I fed Jack a typical American diet, “subtle” would not have been part of that sentence.

In the three years since Aspergers/Autism was confirmed, I have done everything I could humanly possibly think of to do to help Jack. We do therapy 3 times a week, religiously. His super awesome diet was revamped and we did intolerance and allergy testing. Now it is super awesome and specific to HIM. I’ve researched alternative treatments and while finding some viable options, lack of funds has always prohibited me from following through. I’ve been told by the folks that handle his treatment that management of symptoms and appropriate coping skills was the best I could hope for.

For someone who believes to their core that you don’t deal with the end product, THE SYMPTOM, you go to the source, THE CAUSE, to fix things, “management of symptoms and coping skills” was never going to be good enough for me.

Needless to say, I was all over MTHFR testing like white on rice. But it wasn’t that easy. NOTHING in the medical field is ever easy.

I had to go outside the bounds of insurance covered testing and had our DNA results tested through 23andme. Jack and I had fun sitting side by side on the couch one afternoon for about 10 minutes, spitting in a test tube that we had to package up and send out in the mail. It took about 6 weeks to get our results and in the interim I read a lot. Our test results confirmed that we did indeed have several genetic mutations that involved this ‘methylation pathway’.

As you might imagine, the study of nutrigenomics is very complicated. It is also FASCINATING! Nutrigenomics is: the scientific study of the interaction of nutrition and genes, especially the role of diet in causing disease. Imagine knowing what your body might be deficient in, or unable to metabolize nutritionally, and making adjustments based on this information and by-passing some short-coming in your wiring for optimal health.

I see this as a potential roadmap to addressing what is wrong AT THE SOURCE. I am hopeful that this will be the direction that allopathic medicine turns as it is vitally important to treat individuals and not diseases. There is nothing more individual than a persons’ DNA. While the results for Jack and I are similar, they are also distinctly different.

There are ethical questions that people raise about knowing ones’ own genetic predisposition. If you know that I am afraid of flying, you might be surprised to know that when I saw all the potential cancer genetic mutations that I have, I was not alarmed. Just because you have a genetic mutation does not mean that it will express itself. I don’t have a perfect lifestyle, as there is always room for improvement. I do live in a very pro-active healthy manner and therefore the cancer, heart disease, and liver disease mutations do not frighten me. What does however is what is currently being expressed and not knowing what to do?

There are a growing number of practitioners out there who are focusing on this particular kind of medicine. I wanted to write this article so that you could be in the know, and that you could possibly share this information with your health care provider in the hopes that they are open to learning more, and lastly, in the event that if you are in a health condition that is plaguing the Health Pro’s perhaps you haven’t been looking in the right place for answers.

Shawn Bean, with Matrix Health and Wellness is one practitioner who actively works with both Dr’s on education as well as their complicated patients. Shawn mentors open minded Doctors on the latest information and research in epigenetics. He is the co-founder of what he refers to as "Bio-individualized Medicine”

What is Bio-individualized Medicine?

Bio-Individualized Medicine takes genetics and integrative medicine to a new level. By combining the knowledge of Neuro-Endo-Immunology, epigenetics/nutrigenomics, acquired (secondary) mitochondrial dysfunction and cell wall integrity, the practitioner trained and experienced in this arena has the capability of identifying and treating not only the root cause(s) of dysfunction but also attending to the "downstream" effect. That is, fixing whatever the primary causative agent did to the body. This MUST be done on an INDIVIDUAL basis. Each person is different with varied requirements. Practitioners of this paradigm (Shawn Bean and Dr Jess Armine and many more real soon) are findings answers that have eluded others and are developing treatments that show promise in eradicating chronic illness and returning patients to normal function. This can be basically referred to as “Functional medicine on Steroids". I am available for physician, practitioner or client consultations

Shawns’ email address is

It wouldn’t make a lot of sense for me to share with you the specific protocol that I am working for me and Jack, as it is individual to us, but what I will share is that we have seen noticeable improvements. I am hopeful for our future. While I don’t know all there is to know about MTHFR genetic mutations and nutrigenomics, I’m thankful that I now know where I need to focus my energies.

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