Baby boy Brooks Hill lived just two days shy of two months, but his life is taking on a larger meaning thanks to his parents, Caitlin and Rich Hill, and their enthusiastic support for the work of David Sweetser, MD, PhD, director of the MassGeneral Hospital for Children (MGHfC) Genetics and Metabolism Program and site director of the MGH Undiagnosed Disease Network. The medical detective work done by Sweetser – a specialist in rare and undiagnosed diseases – led to a surprising discovery about the family’s genes.

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Read more articles from the 03/08/19 Hotline issue.