One Rare Mother’s Quest to Rewrite Her Son’s Future with a Gene Therapy

Amber Freed transformed the shock of her son’s diagnosis with an ultra-rare neurodevelopmental disorder into a determined campaign for gene therapy. With no clinical roadmap, sparse literature, and doctors offering only symptomatic care, she taught herself biology basics, established a nonprofit, and assembled a scientific team. She focused on gene replacement therapy as the most viable path, and son became the first patient treated in a clinical trial of the experimental gene therapy last September. We spoke to Freed, founder and CEO of SLC6A1 Connect, about how a parent with no scientific background catalyzed the development of the first experimental gene therapy for SLC6A1-related disorder, mobilized scientists, and what other rare disease communities can learn from her journey.