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Scott G Winterton, Deseret News
Stacey Shaw teases her 2-year-old daughter Emmalyn as she does her shaking treatment Tuesday, Oct. 8, 2013, at their home in Sandy. Emmalyn was diagnosed very early with cystic fibrosis.
Identifying infants with these disorders early is so important. They can get treatment, early intervention for physical and mental disabilities and live longer, healthier lives. —Dr. Harper Randall

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.

In July, the health department began screening for severe combined immunodeficiency, or SCID, more commonly known as bubble boy syndrome.

Randall said SCID has not been detected since the lab began screening for it, but it is bound to come up at some point.

"Having this on the screening list is going to save lives," said Jill Heaps, whose daughter, Emily, has SCID.

Emily's case, however, was not identified by a routine screening, as the test was not available 12 years ago when she was born. The family discarded early photographs of their newborn because of a bluish appearance that was mistakenly blamed on the photographer or the equipment.

They waited weeks for specialists to make a diagnosis on their baby, who was suffering various illnesses. It was time they've since learned was valuable.

"It's an emotional experience when you find out your child has something that is life-threatening," Heaps said.

Emily has since endured two bone marrow transplants and dons two cochlear implants to aid her hearing, which was destroyed from a medication taken at one point to save her life.

"She looks just like a normal child should," her mother said, adding that she knows Emily is better off than most kids with SCID. She knows of five others with the condition who have died this year.

Hart said it takes years for a new condition to end up on the list of those already being tested, as it requires federal recommendation and local legislative approval. Each must be shown to be somewhat prevalent, treatable and cost-effective to screen, among other factors.

The state lab receives about 600 to 800 samples each day. Some results are benign and life for those infants goes on as usual, but some, as for Emmalyn, are life-changing.

"It's normal for her," Shaw said. "But she knows she has cystic fibrosis. I never hide that from her because I think it can be her strength as much as it is a hardship for her."

In addition to the 38 conditions tested with the heel prick, the state also conducts newborn hearing screenings, which "saves lives in a different way," said Rich Harward, an audiologist with the state's Children's Speech and Hearing Clinic. He said up to 120 babies are born each year in Utah with permanent hearing loss.

"Children have a critical window in their development" when intervention can reverse such loss, Harward said.

By providing hearing aids and cochlear implants at a more opportune time, families can also save more than tens of thousands of dollars in special education costs throughout their child's education, he said.

"There is nothing more important or affects more people than newborn screening," said Dr. David Patton, director of the Utah Department of Health.

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