Rare But Deadly
Some simple, cheap blood tests could save thousands of kids' lives every year
At a cost of about $70 to $120 per infant, testing all babies appears to be an obvious answer to the disasters that can befall a few. In states where advanced screening is already in effect, the cost is either folded into the hospital bill, covered by the state, or charged to parents. To hear the stories of the Allen and Cline families, universal screening of newborns seems a no-brainer.
Lethargy. Kasie Cline was born on June 6, 1990. "She was very sweet, very easygoing. She was my dream," says Toni. Perhaps too easygoing. She slept through the night almost immediately. Her parents had to wake her to feed her in the morning. "How many people wake up their infants?" she says. Now she knows that Kasie's glucose level dropped abnormally during the night, making her lethargic. It would rise with her morning feeding, setting her right for the day. One morning, when Kasie was 9 months and recently weaned, she had to be awakened. She was limp, her breathing shallow. The Clines called 911, but Kasie died of cardiac arrest in the hospital. Doctors told them it was SIDS, but the Clines were suspicious and agreed to let their pediatrician keep a frozen-tissue sample. The doctor, long uneasy himself about the cause of death, kept searching journals and finally found a clue. He sent the tissue sample to Duke University, where it was analyzed, and the Clines were told their baby had had MCAD.
"Fast forward to 1997," says Sharon Allen, Toni Cline's cousin. She vividly recalled Kasie's funeral. But when she was pregnant with her son, Joshua, she didn't give much thought to why her cousin's baby had died. Fortunately, she lived in North Carolina, and Joshua was born just a few weeks after the state began expanded screening. He was the first child identified with MCAD by the state's new screening program. "Just knowing it is 97 percent of the cure," says Sharon Allen.
Joshua cannot go too long without eating. As a baby, he had to be awakened every few hours to eat. That's because people with MCAD can't break down and store fat to turn into energy. He has to keep replenishing the energy supply, but now he's able to go up to 12 hours, or overnight, between meals. He eats a heart-healthy diet, heavy on fruits and vegetables. He's been an award-winning golfer in the 6-year-old division but will have to rule out wrestling because of its occasional demand to lose weight quickly. Knowing what might have been, his mother sees acquiescing to the quirky demands of his body as easy.
The difference that screening makes for those 5,000 infants and their families is enormous. But whatever Secretary Leavitt does in the next few months, it will be a recommendation, not a mandate, says Peter van Dyck, associate administrator of maternal and child health at the Health Resources and Services Administration, an agency of the Department of Health and Human Services. And a national recommendation doesn't translate into funds to cover the technology, the education of healthcare workers and parents, or the follow-up consultation and treatment.
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