sCReen TesT / by Bridget Meade

Screen Test

Without proper treatment, an infant with a diagnosed disorder faces illness, possible brain damage, developmental delays, and even death

by b ridget Meade

Negative medical test results are scary for anyone. For the parent of a newborn who failed a hearing, genetic, or inherited disorder test before taking their baby home for the first time, it is devastating. However, that test result gave their baby the best chance at a normal, happy life. Required by Nevada state law, all newborns are screened for disorders that are often not immediately visible. Testing for genetic, inherited, and hearing disorders is conducted within 24-48 hours of birth.

For genetic and congenital disorders, a small sample of the infant’s blood is placed on filter paper. Then doctors test it for 30 primary and 25 secondary metabolic, endocrine, hemoglobin, and genetic disorders and cystic fibrosis. For hearing, doctors use technology to gauge how sound travels from an infant’s ears to their brain.

“It isn’t easy watching your child go through that so young,” said Melissa Reslock, mother of two young children. “However, the test is necessary to make sure the babies are healthy.” Reslock is right. While the initial tests are not a diagnosis, it’s an important first step if the baby’s blood sample does not pass. The initial result is followed by a diagnosis and then a determination of the best treatment for the child. Immediate treatment can mean the difference between developmental delays and a normal life for the child. In Nevada, approximately one infant per week is identified with a condition screened for on the panel. Without proper treatment, an infant with a diagnosed disorder faces illness, possible brain damage, developmental delays, and even death. If the infant fails their hearing test and a doctor does not further examine it, the baby could miss out on the critical time for learning language (whether it be spoken or signed). That’s where State of Nevada Newborn Screening Program (NBS) comes into play. Started in 1978, NBS’s mission is to ensure proper diagnosis, case management, evaluation, and education of the families and medical providers regarding rare conditions identified in the screening process.

Receiving appropriate formula within the first two weeks of life is critical to prevent irreversible mental retardation for infants diagnosed with PKU.

A Metabolic Disorder Story

Jodi Mohorvich and Scott Cody welcomed their second son Paul into the world Oct. 12, 2011. Since their 4-year old son Karl was healthy, the news that Paul did not pass his genetic screening test came as a shock. Less than two weeks later, the doctor called with the news. Paul had a rare metabolic condition called phenylketonuria (often referred to as PKU). Found in one in 20,000 children in the United States, PKU means that a body is unable to properly break down an amino acid called phenylalanine. Paul cannot digest protein and would need to adhere to a strict diet to prevent severe mental and physical developmental delays. “It was the day before Nevada Day when the doctor called us with the news,” Mohorvich said. “The next morning, Nevada Early Intervention Services’ dietician Janice Graham was at my house at 9 a.m. with special formula for Paul.” Receiving appropriate formula within the first two weeks of life is critical to prevent irreversible mental retardation for infants diagnosed with PKU. Graham keeps a box of formula in her office for such occasions. The formula has to be ordered from out of state and waiting a day or two for it to arrive is too long. It wasn’t an easy holiday weekend for Mohorvich and her family. Learning that their son would have to be on a special diet for the rest of his life was hard to grasp. It took a few days but Mohorvich realized she and her husband had done everything right for Paul. While they knew they had a lot of work ahead of them, they had him on special formula. They had begun preparing for his future by teaching Karl about his brother’s diet. “Thank God for Nevada Early Intervention Services,” Mohorvich said. “As Paul gets older, we’ll have to make sure his schools are aware of his needs. However, he won’t have any signs of PKU other than his diet.” At 7 months old, Paul is tracking well with his diet. He is in the 95th and 97th percentile for height and weight. He’s sitting, responding to and mimicking sounds, and is a happy baby.