Matt and Noelle have no family history of the disorder and when they left the Pennsylvania hospital where Matty was born, they thought “everything was a-okay; nothing to worry about.”
“On about Day 5,” said Noelle, “we got the call saying he had a presumptive positive for PKU.” Since the Bamontes live in Delaware, Pennsylvania officials forwarded Matty’s test results to the Delaware Newborn Screening Program and to Matty’s pediatrician, who, in turn, referred the family to a local children’s hospital. “We went in that same day,” said Noelle.
The Bamontes met with a genetics counselor, nutritionist and genetics physician. The Delaware Public Health Laboratory performed a repeat test, and two-days later the first-time parents found out that it too was positive.
PKU, said Noelle, “is a very serious disorder. However, it’s a treatable disorder.” Because Matty’s body can digest only minute amounts of the protein phenylalanine, and excess phenylalanine is toxic to his central nervous system, he must adhere to a strict, low-protein diet. Matty and other children with PKU can eat fruits and vegetables, potato chips, non-dairy ice cream and special low-protein pastas, cookies and other foods.
Noelle said, “PKU is hard, but we’re very lucky. . . . It’s food. It’s inconvenient. It’s gonna be a pain for him. But unless you’re eating a meal with him, you’d never know there’s a single thing wrong with that kid. He can do everything a two-year-old can normally do.” His “new thing,” his mother said, is basketball: “He can shoot from across the room. He’s amazing.”
Noelle said her family has been “really lucky” to have the services of the Delaware Newborn Screening Program, which includes laboratory testing and follow-up services. As part of this program, the Delaware Public Health Laboratory screens all state infants—11,000 babies each year—for 37 genetic and metabolic diseases that would otherwise go undetected. Collectively, state public health laboratories screen 97 percent of the babies born in the United States.
Laboratory screening, said Noelle, is “essential.” Without it, Matty’s life would be vastly different. “Matty would never have been diagnosed and he would have ended up mentally retarded and we would never know why.”
Postscript: The Bamontes are now expecting “baby #2” and the Delaware Newborn Screening Program will be working with them to expedite the baby’s screening results.