Early testing can be lifesaver

Iowa’s newborn screening program evolves to help babies thrive

Cindy Hadish
Published: December 24 2012 | 11:45 am - Updated: 1 April 2014 | 3:44 am in

IOWA CITY — One-day-old Gabriel Hernandez-Perez barely let out a whimper as a few drops of blood were drawn from his heel.

While the blood draws might unnerve a parent — even more so than the tiny patients — for most, they provide peace of mind.

“I’m just a big believer in testing,” said Gabriel’s mother, Mirzam Perez, 45, a Grinnell College professor who watched lab technician Lily Swartzendruber deftly take the samples, just 24 hours after her son was born at University of Iowa Hospitals and Clinics.

The 8-pound, dark-haired boy is the picture of health, but for this set of tests, that’s the point.

Iowa’s newborn screening program checks for more than 50 inherited conditions, many of which otherwise would go undetected until problems develop, even with a physical exam.

“There’s no way of knowing the child has this condition without (the screening) until it’s too late,” said Kimberly Noble Piper, executive officer for the Iowa Department of Public Health’s Center for Congenital and Inherited Disorders.

Caught in time, just after birth, treatment such as enzyme therapy, antibiotics or dietary changes can prevent physical or intellectual disability and even death.

The screenings are approaching the 50-year mark, having started in Massachusetts in 1963.

Iowa’s mandatory program began two decades later, but the state recommended screenings starting in 1966 and has long been at the forefront of the effort.

Expanding screening

Mike Ramirez, lab supervisor for Iowa’s newborn screening, said a pilot program will begin early in 2013 to screen for another condition: severe combined immunodeficiencies, more commonly known as the “boy in the bubble” disease.

The addition likely will add about $10 to the $112 charge of each infant screened. Most insurance covers the cost.

While rare, occurring in just one in 60,000 births nationwide, the disorder is deadly if the infant contracts an infection, as those babies are born without an immune system.

A stem cell transplant can treat the disease.

That’s another point of the program, formally known as Neonatal Metabolic Screening.

“We don’t screen for things just because we can,” Piper said, citing one of the criterion for adding a disorder to the list. “We need to make sure there is a positive outcome we can have on that baby’s life.”

From its site in Ankeny, the State Hygienic Laboratory analyzes samples for the nearly 40,000 babies born in Iowa every year. The lab also performs the service for 9,000 babies born in North Dakota and 12,000 in South Dakota.

Piper said about 30 to 40 parents refuse the screenings every year, plus an unknown number of babies born at home.

Ramirez noted that even though each disorder is rare — occurring in 1 in 3,000 births to 1 in 100,000 — about 200 screens come back every year as “presumptive positive,” and of those, about 50 go on to confirmed diagnoses.

“That’s a prevalence of one in 800 when you take them all collectively,” Ramirez said.

Conditions include sickle cell anemia, cystic fibrosis – one of the latest added - and phenylketonuria, or PKU, the condition that led to the screening effort half a century ago.

Grateful family

Jim Brown, 46, who farms near Lake City in west-central Iowa, had never heard of PKU until his first child was born.

The screening came back abnormal, prompting more tests for his son, Brandon.

“I was not aware of that at all,” Brown said. “We thought we had a perfect little baby.”

Babies with the rare condition are unable to properly break down an amino acid called phenylalanine.

Without modifications to his son’s diet, Brown was told Brandon would have brain damage within six months.

Both parents must pass on the gene for their child to have the condition.

Even though the odds were 25 percent with each pregnancy, all four of the children born to Brown and his wife Donna, 45, had PKU.

Brown said the family became experts at limiting the amount of protein the boys could eat, even including meat raised on the family farm. They still must consume a special formula that provides most of their nutritional needs.

Now 23, Brandon is a golf course superintendent; Jacob, 22, is a senior at Northwest Missouri State; Trevor, 18, is a high school senior and Colin, 16, is a sophomore in high school.

Everyone will be home for the holidays, with plans to go to church together tonight, and Christmas spent at the farm before visiting relatives.

“They are 100 percent active, healthy, happy boys,” Brown said. “If it wasn’t for that test, our lives would be completely different. We’re blessed in many ways.”

FYI:

Just this year, the State Hygienic Laboratory and UI School of Journalism and Mass Communication jointly launched “Putting Babies First,” a Facebook page started with a grant from the Genetic Alliance.

Videos and a social media campaign originating in Iowa are used by nurses, laboratory staff and families around the country.

Find more, including a state-by-state list of conditions screened, at: www.babysfirsttest.org

 

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