An Ounce of Prevention: Early Detection of Certain Diseases in Infants Can Save Lives and Prevent Suffering

By Johnson, Alissa | State Legislatures, October-November 2005 | Go to article overview

An Ounce of Prevention: Early Detection of Certain Diseases in Infants Can Save Lives and Prevent Suffering


Johnson, Alissa, State Legislatures


Like most parents, Jill Kelly and her husband, Pro Football Hall of Famer Jim Kelly were thrilled when their infant son Hunter came home from the hospital. Along with the new arrival came sleepless nights, but the Kellys were pros, with two girls under their belt. When Hunter began crying most of the day, however, they decided to visit their pediatrician.

Doctors were not able to pinpoint the cause of Hunter's suffering, Krabbe Disease, until he was 4 months old. Treatment was not available for the illness, which is an inherited disorder that results in severe neurological damage and eventual death. The Kellys were devastated. Jim Kelly recalls: "Our biggest nightmare came to fruition when our son Hunter was diagnosed with Krabbe leukodystrophy. From that point on, I was ticked off at the world."

As reality sank in, the Kellys tried to cope with their son's fate. With his wife's encouragement, Jim decided to use his reputation as a former Buffalo Bills quarterback to draw attention to the issue. He created The Hunter's Hope Foundation, which funds Krabbe Disease research. Through their work, the Kellys learned that children diagnosed shortly after birth with the disease may benefit from a cord blood transplant, which Kelly says has been a miracle for some children.

"We are seeing kids who are able to walk, talk and smile. They are not quite 100 percent, but at least they have a certain quality of life. At least they can smile. Hunter never really smiled." Oxygen, medication for seizures, reflux and breathing, and suctioning approximately 100 to 150 times a day because of his inability to swallow, allowed their son to battle the disease for eight years until his recent death.

EARLY DETECTION

Hunter's condition is just one of many in which an early diagnosis may mean a world of difference. State public health programs screen an estimated 4.1 million newborns annually for genetic and metabolic disorders. Early detection of many abnormalities can prevent severe disability, mental retardation or even death. It may also save states and families money by avoiding financially burdensome medical costs and state institutional services. But whether a newborn receives screening for a particular condition depends on his or her birthplace. The list of conditions screened for at birth (referred to as a newborn screening panel) differs from state to state. This disparity and the technological advances that allow for expanded screening have led some groups, such as the March of Dimes, to ask all states to screen for a basic uniform panel.

The American College of Medical Genetics, after evaluating scientific evidence, recommended certain conditions for which all infants should be screened. It was a challenge, according to Michael Watson, executive director. "Because of the rarity of the diseases, there was not an enormous literature base for the conditions. So we focused on a two-tiered approach using experts to evaluate these conditions. We went through newborn screening programs all over the world and identified any condition that had been screened."

In the end, an array of experts carefully considered a list of more than 80 disorders. The study report "Newborn Screening: Toward a Uniform Panel and System" recommended uniform screening of all infants born in the United States for a panel of 29 conditions. Metabolic disorders, which prevent proper break down of food, make up the majority of the panel. Simply adhering to a special diet in those cases may prevent otherwise grave consequences such as mental retardation. The remainder of the panel includes blood disorders, cystic fibrosis, and other conditions for which early detection and treatment were determined beneficial. Newborn screening laboratories can perform the additional screening on a blood sample already collected at birth with the use of technology called tandem mass spectrometry.

STATES RESPOND

The report has spurred some states to action. …

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