Simple newborn screening saving babies' lives

Published: Tuesday, Oct. 8 2013 6:23 p.m. MDT

Stacey Shaw helps her 2-year-old daughter Emmalyn with her breathing treatments Tuesday, Oct. 8, 2013, at their home in Sandy. Emmalyn was diagnosed very early with cystic fibrosis.

Scott G Winterton, Deseret News

SANDY — No one knows what the future holds for 2-year-old Emmalyn Shaw, but it's likely more promising since receiving a diagnosis of cystic fibrosis at an early age.

"She had some challenging first weeks of life," her mother, Stacy Shaw, of Sandy, said Tuesday, adding that Emmalyn's compromising condition had the physicians "dumbfounded."

But thankfully, one simple test gave the Shaw family answers they yearned for, answers that would change their lives.

Emmalyn is one of nearly 1 million babies born in Utah since 1991 who have been screened for cystic fibrosis, as well as for 37 other disorders with the newborn screening program.

The simple heel prick test uses blood samples taken within the first week of life and again after two weeks to identify the potential for some of the better-known rare but debilitating disorders, including cystic fibrosis, congenital hypothyroidism, phenylketonuria — or PKU, sickle cell anemia, congenital adrenal hyperplasia and galactosemia.

Families are often notified that their child might have a treatable, life-impacting genetic disorder within 72 hours of positive results discovered at the Utah Public Health Laboratory in Taylorsville.

"Identifying infants with these disorders early is so important," said Dr. Harper Randall, medical director at the Utah Department of Health's bureau of children with special health care needs. "They can get treatment, early intervention for physical and mental disabilities and live longer, healthier lives."

Emmalyn's condition requires constant care. She receives two to four complicated breathing treatments every day and takes multiple medications, including pancreatic enzymes to help her digest a mandatory 1,800 calories a day, multivitamins to keep her healthy and others depending on her daily condition.

Cystic fibrosis, according to the Cystic Fibrosis Foundation, is an inherited disease that affects both the respiratory and digestive systems in the body. Many people with cystic fibrosis can expect to live to age 30 — and sometimes longer.

"We are lucky and blessed she is doing as well as she is," Shaw said.

Catching the cystic fibrosis at such a young age, she said, gives their family a chance to keep Emmalyn as healthy as possible, despite the deteriorating actions that result from the condition.

"Many of these disorders are not apparent at birth, and there are severe consequences if left undetected," said Dr. Nicola Longo, director of the metabolic clinic at the University of Utah. "But early diagnosis and therapy can prevent intellectual disability and in some cases death."

Advancing technology allows for additional conditions to be screened, he said, adding that Utah's program is one of the best and busiest in the nation.

"Newborn screening is not standard in other states," Longo said.

The test, however, has been available at many hospitals and birthing centers across the nation for 50 years. It was developed in 1963 by a passionate father, Dr. Bob Guthrie, who was determined to learn why his own son was born mentally disabled.

The Utah Department of Health began managing the testing process for the state in 1979, and newborn screening was mandated in the United States in 2008. Unless parents opt out, it is routinely conducted.

About 99 percent of newborns are tested in Utah, minus home births, where testing is not routine, according to Kim Hart, who manages the state's program. Hart said the price for the heel prick and subsequent lab work is $103, which is paid alongside other labor and delivery costs.

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