This emotionally powerful episode of The Medical Detectives follows Catherine, a devoted mother and academic, as she shares the gripping journey of seeking answers for her young son George’s mysterious motor delays. What begins as a typical birth story slowly unravels into a harrowing diagnostic odyssey marked by missed milestones, medical gaslighting, and a mother’s unwavering instinct that something more serious was wrong. After years of uncertainty, George is diagnosed with a rare neurological disease—CMT4C—for which a gene therapy already exists, but lacks funding for clinical trials. Catherine courageously recounts the highs and lows of her family’s fight to secure treatment, her viral advocacy on TikTok, and her mission to change the system that leaves rare disease patients behind. It's a story of maternal love, persistence, and hope, and a call to action that could change lives.
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