The Science of Health: Perils of Newborn Screening; July 2012; Scientific American Magazine; by Ariel Bleicher; 2 Page(s)

The first symptoms often appear a month or two after birth. The babies' muscles stiffen. They lose their hearing and vision, stop sleeping and scream in pain. Some develop seizures. By the time many parents learn that their children have Krabbe disease—a rare genetic disorder that degrades nerve cells—it is too late for the only viable treatment, a transfusion of umbilical cord blood stem cells from healthy donors. Children with full-blown Krabbe who do not receive medical treatment, as well as many who do get treated, usually die by age two.

In some cases, doctors can prevent this grim outcome by screening infants at birth for genetic harbingers of disease. Right now such tests are mandatory in only a few states—something that many parents want to change. “If we don't screen for this disease at birth, those children will never have a chance at life,” says Jacque Waggoner, CEO of Hunter's Hope Foundation, one of several advocacy groups lobbying state politicians to add mandatory tests for Krabbe and other rare diseases. The politicians are starting to listen. In the past year four states have passed legislation that requires hospitals to check newborns for abnormal enzyme levels linked to as many as seven new diseases.