Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out

Shortly after Milo Lorentzen was born, nurses whisked him away to the neonatal intensive care unit for low blood sugar and jaundice. An exam then found a cluster of irregularities, including a cleft palate and a hole in his heart.

The staff called in a geneticist, who issued a misdiagnosis — the first frustrating episode in what would become years of testing, as Karen Park and Peter Lorentzen searched for a way to help their son.

Five years later, Park and Lorentzen know Milo's significant developmental delays likely stem from a mutation in a gene called KDM1A. He didn't inherit that mutation from his parents; it's new in Milo, though it could be passed along to any children he might one day have. And because a mutation in that gene is so rare, little is known about it.

Be the first to comment