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NATUROPATHIC CASE STUDY: DNA TESTING

A young couple came to see me after experiencing two spontaneous miscarriages.

Through DNA testing, it revealed that both the man and the woman had a single-nucleotide polymorphism (SNP) in the methylenetetrahydrofolate reductase (MTHFR) gene. This means that their capacities to generate the active form of folate were significantly compromised, putting their pregnancy at risk for birth defects and miscarriage.

Pregnancy protocol: First a detox of 8 weeks was implemented where the focus was on healthy food, no alcohol and no sugary foods. Then the following program was initiated to support a healthy pregnancy

  • A prenatal vitamin that included a combination of methylfolate and folinic acid, thus the active form of folic acid plus an additional methylcobalamin which is the active form of B12, daily.
  • A fish oil specific for pregnancy
  • A probiotic specific for pregnancy
  • A healthy diet of organic protein and fresh produce

With this protocol, the couple achieved a healthy pregnancy, and a beautiful baby boy was born 9 months later with no complications.

Folate is essential to prevent neural tube defects and is therefore included in all prenatal vitamins, but not all forms are equal.  Particularly in cases of SNPs in the MTHFR gene, it is necessary to provide folate in a form that bypasses this enzymatic conversion. Folic acid that remains unmetabolized can have damaging effects. With this DNA testing, it showed that

the preferable form is methylfolate, also called L-methylfolate or 6(S)-5-methyltetrahydrofolate. This is the biologically active form of folate, which is found in food and inside human cells. In this case DNA testing was very helpful in detecting the root cause of the problem.