Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award

My path to pediatric neurogenetics did not begin in a classroom or specific clinic, but in the inventive chaos of childhood experiments with my brother that turned everyday spaces into laboratories of possibility.My path to becoming a pediatric neurogeneticist was neither linear nor predetermined for me.My earliest scientific "laboratory" was a kitchen table in my childhood home strewn with parts purchased from Radio Shack.My brother (now adult neurologist David Saperstein, M.D.) and I built rudimentary "computers" and explored the mechanics of problem-solving and teamwork.A backyard picnic table was our makeshift anatomy bench, and a cat pelvis (from my 11th-grade physiology course) became a hands-on lesson in structure and function.Those early experiences established a foundational approach to science where curiosity, persistence, and the belief that answers exist if one is willing to take things apart and put them back together again began my journey.Since then, the field of neurogenetics has matured into a recognized discipline with formal clinics, training pathways, and research networks.However, the most transformative moments of my career were driven by serendipity, mentorship, and most profoundly, my patients' stories.Here I describe the influences that shaped my professional journey, the evolution of neuroimaging and biomarkers in metabolic disease, and the enduring lessons of listening, learning, and leadership in the field of rare disease medicine.