Wednesday, November 26, 2014

MTHFR and salicylate sensitivity

A few months ago our whole family (minus the toddler) got tested for MTHFR mutations. Before that, I had never heard of MTHFR and knew nothing about how genetic polymorphism could affect our health. It has turned out to be absolutely crucial to understanding Ellie's health and her struggle with food sensitivities.

Initially we did the test for Ellie and myself. I tested positive for one mutation, and she tested positive for the other. Later, we tested my husband and he was positive for Ellie's, which means he passed it on to her. Now I know who to blame ;)

My mutation is quite minor, but hers can be more serious. The testing results showed that her enzymatic activity is only 60% of a normal person. What does that all mean? It took me a lot of reading and absorbing to sort out not just the basic science of it, but also, what this means specifically for Ellie.