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How Did We Get Here?

Many people have asked me how I learned about the MTHFR gene mutation. The answer is not an easy one, and hard to give briefly and clearly.

It wasn’t until Mr Foxy’s 1 year old check-up that he was tested and we got the positive test results, but there were “red flags” since the day he was born that lead me on a path to MTHFR, and they mostly related to midline defects. Think of it as if someone drew a line from your head down, separating the left side of your body from the right. Any defects along this imaginary line are midline defects.
There are a wide range of midline defects, but many well-known ones include:
  • Lip and tongue ties
  • Sacral dimple
  • Congenital umbilical hernia
  • Cleft lip and palate
  • Spina bifida
  • Heart murmers and many other heart defects


Mr Foxy has several midline defects that I researched as he grew in an effort to educate myself on what his defects were, and what concerns they might present as he grows. I didn’t set out to learn all about them in a day, but researched a little here and there over 6 months or so. During that time I kept running across the acronym MTHFR, not only in my research, but also in articles shared by my friends and bloggers that I follow on Facebook! It was everywhere! I finally read one of those articles and when it mentioned the occurrence of midline defects I knew I was on to something! But the more I read, the more I realized I needed to know for sure.


When he was 11 months old I went to a talk our pediatrician did about kids’ health at the local natural health store. Since the knowledge and study of MTHFR are still relatively new, I had been gathering information and getting ready to state my case to the doctor about why it was important that he get tested on our next visit. So imagine how happy I was when she brought it up at that talk! Even though she admitted that she was still learning about it, she was relatively knowledgeable and thought it was important to get answers for these kids’ health! Yay! At his 1 year appointment I brought up a few points and my concerns, and she completely agreed and took a cheek swab right then. What a wonderful feeling when you and your health care provider are on the same page!


Since we got his positive results I’ve been spending most of my free time researching MTHFR and what it means for Mr Foxy’s health. One thing I learned is that someone doesn’t need to have midline defects with MTHFR. There are many who don’t have them, but have other problems that are related to MTHFR. Unfortunately, since many doctors don’t know about it, they struggle with chronic health problems their whole life! If I weren’t a “RESEARCH ALL THINGS!” type of person, Mr Foxy’s could have been missed. I’m so thankful I pursued his “red flags”!

I will attempt to share more in the future as we learn about what this gene mutation is, and what it means for my son’s long-term health. Please leave a comment with any questions you have, and I’ll try to cover it in the future!

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