Our story began in 2020 when my grandson, Samuel, was born. He wasn’t meeting key milestones like rolling over or sitting up, so at 8 months, he had a brain MRI (a detailed scan), which showed an issue called frontal cortical dysplasia. This means part of his brain didn’t develop its layers correctly. However, this didn’t explain his delays, so at 13 months, a genetic test called a Chromosomal Microarray (which looks for missing or extra pieces of DNA) revealed that Samuel had deletions (missing segments) of the MAO A and MAO B genes on the X chromosome and additional deletions on the 17th chromosome.
MAO A and B genes make enzymes that help regulate brain chemicals like serotonin and dopamine, which are critical for mood, behavior, and development. Missing these genes causes MAO A/B deficiency, a rare condition that explained Samuel’s challenges.
With my background in biochemistry (studying chemical processes in the body), I searched for treatments but found no FDA-approved options. The only recommendation was a low-tyramine diet (avoiding certain foods that affect brain chemicals), but no drugs were available.
Determined to find better answers, our family started the Monoamine Oxidase Deficiency Foundation in 2022 to raise awareness and fund research. Our goal is to develop treatments for both MAO A/B and MAO A deficiencies.