As second-time parents, Jamie and Tom Lazzaro, of Louisville, KY, weren't the kind to become alarmed about every little cough or sniffle. Even so, when their 8-month-old woke up vomiting in the early-morning hours of August 13, 1997, they called their pediatrician, who didn't think it necessary to rush the baby in. "We changed James' sheets, and rocked him," his mom recalls. "He went back to sleep, and we thought that was a good thing."
By the following morning, James, a cheerful, chubby, blue-eyed baby, was dead, the victim of a rare hereditary disorder with a tongue twister of a name: very long chain acyl-coA dehydrogenase deficiency, or VLCAD. The tragedy, the Lazzaros say, was compounded by the fact that it didn't have to happen: A simple blood test could have detected James' disorder at birth, and he could have been treated for it. But Wisconsin, where James was born and the Lazzaros lived at the time, didn't require the screening, and so the hospital didn't offer it.
Alex Nawn got that test. He has MCAD (medium chain acyl-coA dehydrogenase deficiency), which is closely related to the disease that killed James Lazzaro. He was born in October 1998, in a Pennsylvania hospital that offers the newborn screening. Today, he's an active toddler who loves chasing his cat, Garfield, around the dining room. The only thing he must do to control his condition, caused by a missing enzyme that prevents his body from properly converting fat into energy, is to eat a food high in sugar or carbohydrates, such as orange juice or ice cream, just before bed. His mother, Wendy, is well aware that the outcome could have been very different. "Our little boy," she says, "was born in the right place at the right time."
Sheryl Gay Stolberg is a correspondent for the Washington bureau of The New York Times.
