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Even before her first birthday, Jashaia Trinity Small startled more easily than other children exposed to loud noises. Once an ambitious walker, she began to fall more often and needed support to stand up. She blinked repeatedly, "and when you called her, she had to look around the room to see where you were," her mother, Nadine Green-Small recalls."By the time she was a year and a half, I knew something was really not right," Green-Small said. Last fall, Jashaia Small was diagnosed with Tay-Sachs disease, a genetic disorder most often diagnosed in eastern European Jews and only rarely in...

MINNEAPOLIS - Dr. Mindy Rauch thought she was humoring her brother at a family gathering last Father's Day when she agreed to examine his 6-month-old daughter, Hannah. The baby's stomach worried him: it felt taut, and too big. Dr. Rauch, a pediatrician, thought her brother was just another nervous first-time father. "Oh, look at this belly," she said playfully, feeling the baby's middle. A moment later she turned to her husband, who is also a pediatrician, and said, "You have to feel this." Hannah's liver and spleen were enormously enlarged. It was a sign of serious illness: possibly a tumor,...