This panel will highlight one rare case, starting with a diagnostic odyssey, holistic care, and progress toward an N-of-1 trial. Together, the panelists (Dr. Mallack, Dr. McArthur, Dr. Speed, and Rob Schrier) will explore how scientific discovery and compassionate multidisciplinary care intersect—and how collaboration between patients, families, and clinicians drives progress in rare disease research and management. #rarediseaseday #johnshopkins