The Discovery: CFD & FRAA
Daddy stayed up really late reading science stuff on his computer. Then one day he said, "Kenzo, I think I found something important!" This is what he found.
This chapter is mostly science stuff, so I'm letting Daddy explain. But basically? He found out that maybe my brain wasn't getting enough of a vitamin it needs. And there might be a way to fix that!
🎤 Daddy's turn!
This part has lots of science, so my daddy Jay takes over. He promises to keep it understandable!
How I found out about CFD
After two years of therapy with slow progress on speech, I started digging deeper. Late-night PubMed sessions led me to research by Dr. Richard Frye and Dr. Vincent Ramaekers on something called Cerebral Folate Deficiency. The more I read, the more the pieces fit.
What is Cerebral Folate Deficiency?
CFD is a condition where the brain doesn't receive enough folate (vitamin B9), even when blood folate levels are normal. Folate is essential for brain development, neurotransmitter production, and DNA synthesis. When the brain is deprived, it can affect speech, motor skills, social interaction, and cognition.
The most common cause in children with ASD is Folate Receptor Alpha Autoantibodies (FRAAs) — antibodies that block the receptors responsible for moving folate across the blood-brain barrier.
📈 The number that stopped me
Research by Dr. Frye found that approximately 71% of children with ASD test positive for FRAAs. This makes it one of the most common — and most treatable — biomedical findings in autism. Yet most parents have never heard of it.
The two types of FRAAs
- Blocking antibodies — prevent folate from binding to the receptor
- Binding antibodies — attach to the receptor and may trigger immune damage over time
A child may have one or both. Either type means folate isn't reaching the brain efficiently.
Getting tested
For about 12 months, I had been searching for a local organization in the Philippines that could help us test for CFD and FRAA. Then Kenzo's school brought in Dr. Raymond Escalona from CreateHealth, who shared their local story about FRAA and folinic acid — and everything clicked.
The test is done by Gensens Diagnostics in the Philippines, who has a partnership with ReligenDX in the US. It's a blood test that checks for Folate Receptor Alpha Autoantibodies. The blood draw is done locally and shipped to the US for analysis. Results take about 2-3 months.
Treatment: leucovorin (folinic acid)
The primary treatment is high-dose leucovorin calcium (folinic acid). Unlike regular folic acid, leucovorin can bypass the blocked folate receptors and deliver folate to the brain through an alternative transport pathway. This is a prescription treatment that must be monitored by a physician.
💬 Important distinction
Leucovorin, folic acid, and methylfolate are all forms of folate but they work differently. Leucovorin specifically has the ability to bypass blocked FRAAs. Your doctor needs to guide this — don't self-prescribe.
Why dairy-free matters here
Research shows that dairy proteins (casein) may cross-react with folate receptors, potentially worsening FRAA. This is one scientific reason behind the GFCFSF diet (gluten-free, casein-free, soy-free) commonly recommended alongside leucovorin.
What this means for Kenzo
We've had Kenzo tested through Gensens Diagnostics and are now awaiting results. Based on his profile — ASD, suspected childhood apraxia of speech, and slow therapy progress — CFD is a strong hypothesis. If confirmed, leucovorin could be the key to removing the neurological barrier that's been limiting his therapy gains. This chapter is still being written.