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Heather Spear and William Hanberg sit with their daughter EmmaRose in an examination room at UCLA. At 21/2, EmmaRose is snuggly and engaging, but she doesn't yet walk or talk, and the family has traveled about 150 miles from Lompoc, Calif., to try to figure out why.
A genetic test showed abnormalities, including alterations to a gene linked to learning disabilities and autism. But no one's sure whether these lie at the root of EmmaRose's delayed development.
A large team - doctors specializing in pediatric genetics, social workers, dieticians and others - will help Spear and Hanberg figure out what's going on. But Michelle Fox, who joins them in the room, will be the family's primary contact. As a genetic counselor, it is her job to translate jargon - talk of "chromosomes," "exons" and "gene duplications" - into plain English, to help Spear and Hanberg bridge the gap between a sometimes bewildering clinical process and the everyday work of helping their child.
Fox explains EmmaRose's test results. She asks Spear and Hanberg about their medical history: How old are they...