My MTHFR Gene Mutation Story

Written by Miranda Ortolani

From as young as I can remember, I never felt right after eating. I thought to myself, “this doesn’t feel normal”, but I sort of just assumed that it was. Finally, when I was 18 years old I was diagnosed with IBS(irritable bowel syndrome) and was put on a low-FODMAP diet. However, I still always felt sick after eating, had severe abdominal pain, irregular bowels, nausea, fatigue, frequent migraines… the list goes on. It got to the point where it started interfering with my daily life.  I had been tested for many different diseases, one being celiac disease which came back with negative results. Two years later, I heard about the MTHFR gene mutation from Kristie L. Finnan, RD, LDN. My life has completely changed since then! I was tested for the gene and I am homozygous for the MTHFR c677t mutation. If you’re wondering what this silly sounding gene stands for, it is methylenetetrahydrofolate reductase (I know- it’s a mouthful!). MTHFR is an enzyme that makes folic acid usable by the body. When a person has this genetic mutation and cannot use the folic acid they are consuming, it builds up in the body and can cause the symptoms I was experiencing. Folic acid is the synthetic form of folate and is found in many processed foods as well as fortified grain products (bread, cereal, pasta). Therefore, I started a gluten-free diet along with supplements that include L-methylfolate and other vitamins I was deficient in because of the mutation. Now, I only consume
natural folate. I did not realize how sick I had been feeling once I started to feel better! I even noticed other things improving such as my skin completely clearing up and my concentration getting much better. Now, I am symptom-free and have been living a much happier life ever since.

Written by Miranda Ortolani
Miranda is a senior Nutrition/Dietetics major at Penn State University and has been our student intern here at Eat Right Bucks County for 3 years.  She is passionate about living a healthy lifestyle that includes a well balanced diet and exercise.

Call to schedule an appointment with Kristie Finnan, RDN, LDN for a personalized nutrition assessment so you can eat according to your genes!


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