A Quest for Tribe: Searching for Others with the Same Ultra-Rare Mutation

When Milo Lorentzen was born, concerns over his condition sent him to a neonatal intensive care unit where he spent the first ten days of his life. It began a medical and diagnostic odyssey for him and his parents. After six surgeries and undiagnosed global developmental delays, doctors identified a de novo gene mutation to his KDM1A/LSD1 gene that is believed to be the cause of his condition. His parents eventually launched the website Milo’s Journey to tell his story in the hopes of finding others with the same mutation. We spoke to Karen Park, Milo’s mother, about her family’s experience, the challenge of having a child with an ultra-rare disease of unknown consequence, and the experience of finding others with the same condition.