The following information relates to a clinical case – name* changed for privacy. I share this information to, once again, highlight the importance of testing whenever there are any fertility concerns.
“When MTHFR is just the beginning. Michelle* was 34 years old when she walked into my clinic, carrying a folder thick with test results and referral letters.
Three miscarriages in 18 months. All between 7-9 weeks gestation.
Her reproductive endocrinologist had run every standard test:
- Hormone panels: perfect
- Thyroid function: optimal
- Ovarian reserve: excellent
- Uterine structure: normal
- Partner’s sperm analysis: great
- Karyotyping: no chromosomal issues
- Thrombophilia panel: negative
“Every doctor tells me my numbers look perfect,” she said, her voice breaking. “They say it’s just bad luck. But three times? That doesn’t feel like luck.”
The Genetic Testing Revealed:
Her OB had actually tested her for MTHFR after the second loss. She was MTHFR C677T homozygous —the variant everyone talks about in pregnancy loss because it is ~70% downregulated.
Amazingly, they’d put her on methylfolate (not folic acid!). 800mcg daily. Standard protocol.
She still lost the third pregnancy.
Here’s what no one had looked at:
I ran a comprehensive genetic panel. Yes, she had the MTHFR homozygous variant. But that was just one piece of a much bigger puzzle.
Her full genetic picture included a further six variants all of which are intricately inter-linked.
Everyone focuses on MTHFR in pregnancy loss. And yes, it matters. But look at what was really happening:
Her MTHFR meant she couldn’t convert folic acid in her prenatal to methylfolate efficiently. But her other variants meant even when she took methylfolate, she couldn’t properly utilise it because the B12 uptake recycling pathway was broken.
Meanwhile, her other variants were shunting methyl groups away from the methylation cycle and into sulfur metabolism and glutathione production—essentially draining her already-compromised methylation capacity.
The result?
Despite taking methylfolate, her homocysteine was still elevated. Her body couldn’t methylate properly, which meant she could also be experiencing:
- Impaired DNA synthesis during rapid fetal cell division
- Damaged placental blood vessels from elevated homocysteine
- Poor methylation of neurotransmitters (her anxiety was through the roof)
- Inadequate support for the clotting variants that were also lurking in the background
The Results:
Month 2: Homocysteine dropped to an acceptable level
Month 3: Anxiety significantly improved
Month 4: Conceived naturally
Throughout pregnancy: Continued high-dose methylation support with monitoring
Week 39: Delivered a healthy baby boy
She went on to have 2 more children, same protocol, no issues.”
This is a perfect example of why consulting a trained qualified Naturopath can help.
This case wasn’t complicated because the genetics were rare. The variants she had are seen all the time – the difference is that all the information provided a picture of the underlying causes and when these are addressed, Michelle was able to have three healthy pregnancies and three healthy babies.
Case courtesy of Carolyn Ledowsky, MTHFR Support Australia
