Jessica Fein opens our conference with a story that transcends the clinical—her daughter Dalia's battle with MERRF syndrome, a rare mitochondrial disorder that remained elusive for years despite medical vigilance. In the absence of family medical history, Fein confronted a pivotal challenge that many families face: navigating the road to diagnosis when vital pieces of the genetic puzzle are missing. Through personal narrative and practical insights, Fein bridges the gap between laboratory research and kitchen table conversations about rare disease, revealing how the partnership between families and scientists becomes essential when traditional roadmaps are incomplete. She offers perspectives on what truly supports families during periods of diagnostic uncertainty, and how scientific innovation can thrive precisely at these intersections of mystery and lived experience. Her story reminds us that behind every rare disease there’s a family desperate for answers and hungry for hope. In this space between mystery and discovery lies our greatest opportunity -- to listen deeply, collaborate boldly, and ultimately transform lives through the power of diagnosis. By recognizing that this journey belongs to all of us—patients, families, clinicians, and researchers—we can navigate this rare world together and chart a course toward better outcomes for those who need it most.