What exactly *IS* this MTHFR I’ve been talking about? MTHFR is shorthand for the methylenetetrahydrofolate reductase (methyl-ene-tetra-hydro-folate-reductase) gene mutation. That’s a mouthful, isn’t it? I still have trouble pronouncing it. Many people think it looks like disemvoweled swear word, and I think that’s appropriate! Please understand that MTHFR is far more complicated than anyone can convey in a simple blog post. There are multiple websites and forums devoted to the science and study of MTHFR. I’ll link a few at the end for further reading. But for now, I’m going to attempt a brief overview. methylation cycle [3] First of all, variations in DNA are normal; we all have them! It’s estimated that there are about 10 million variations, and they’re the reason for the human race’s diversity. Some gene variations cause Down Syndrome and Cystic Fibrosis, and they are even responsible for curly hair and color blindness. They influence how we look and behave, and how our bodi
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