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Wisconsin infant-screening program helps detect rare diseases for early intervention

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baby feet

When Tylee Daniels' daughter Tatiana was born at St. Joseph's Hospital in Milwaukee nearly two years ago, mom knew something was wrong.

"Tatiana was just making these weird little sounds," said Daniels, 32, who already had six boys. "The nurse said that she heard a murmur," so she took Tatiana to the hospital's Newborn Intensive Care Unit.

Two hours later, Daniels was greeted by doctors and nurses with worried looks on their faces.

"Something was wrong with her heart. They didn't know what it was," she said.

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That changed quickly, as the infant's blood specimen was immediately tested by the state's Newborn Screening Program. Without such testing, which nearly 70,000 Wisconsin infants undergo each year, Tatiana would have died.

The process began at birth, when a blood sample was taken. When she started having problems, Tatiana was transferred to the Children's Hospital of Wisconsin. Three days later, the doctors got some bad news from the Wisconsin State Laboratory of Hygiene in Madison: the testing had shown Tatiana was born with very long chain acyl-CoA dehyrodgenase, a fatty acid disorder that inhibits the body from breaking down longer chain fats.

But the doctors at Children's, one of two centers in the state that treat disorders like Tatiana's, knew exactly what to do.

"She turned around so fast," Daniels said. "She's here. She's healthy -- as healthy as she can be with her disorder."

With just five drops of blood from a prick of a newborn baby's heel at birth, scientists at the state lab can determine whether the newborn is at risk of 44 rare disorders -- some that can take a baby's life within days. Each year, the program detects a disorder in about 125 newborns.

On Friday, the state lab is celebrating 50 years of newborn screening in the United States. Wisconsin began its newborn screening in 1965 with testing for phenylketonuria (PKU), a disorder that prevents the body from digesting phenylalanine, which is found in foods with protein. If not treated, PKU can lead to brain damage and learning problems.

"The concept of newborn screening is early detection, early intervention...to prevent severe consequences," said Mei Baker, co-director of the state's Newborn Screening Laboratory and a professor of pediatrics at the University of Wisconsin-Madison.

Although the screening program saved her from an early death, Tatiana will have to deal with the disorder for the rest of her life.

And no one knows how long that life will be since the lab only started testing for Tatiana's disorder 12 years ago, when new technology known as tandem mass spectometry allowed them to add about 30 disorders to the newborn screening panel, said David Dimmock, a physician at the Children's Hospital of Wisconsin & Froedtert Hospital and associate professor at the Medical College of Wisconsin.

"If she had been born 13 years ago, she would have just died," said Dimmock, who also chairs the Newborn Screening Program's metabolic subcommittee and is a member of the program's advisory committee. "The conditions that we screen for, although they are individually rare, one in 250 kids in Wisconsin has one."

In addition to testing all babies born in Wisconsin, the state lab tests an additional 25,000 to 29,000 newborns each year from Montana, Kuwait, Turkey and Dubai. Some states don't have the resources to screen for more than a few disorders, so they will send specimen to other states that can.

The Wisconsin program costs $104 per baby, which is usually included in hospitals' birth fee and almost always covered by insurance. For home delivery, families have to buy the screening card and send it to the lab.

In 2012, the program screened 66,591 Wisconsin babies and detected disorders in 117 of them. The most common one was congenital hypothyroidism, which causes the body to not make enough thyroid hormone and can result in poor physical and mental development if not treated.

Still, there are other known serious conditions that the lab isn't testing for, but could if the state decides that the cost to add more diseases to the program is worth it.

Currently, the state is considering adding Pompe disease, a rare and often fatal disorder that disables the heart and skeletal muscles, to its list of newborn screening disorders. The disease is estimated to occur in one of every 40,000 births.

Austria and Taiwan already include Pompe in their screening of newborns.

"We have to make sure everybody is agreeable to pay more money to save more lives...as a parent I think that's a no-brainer," Dimmock said. "Because of the political climate in the U.S., we are not leading the world in the way that we used to...how much is a child's life worth?"

For Daniels, a single mom with seven kids, the costs of raising a baby with a rare disorder are taxing -- both financially and emotionally -- but the rewards far outweigh them.

"All her brothers, they love her and they look out for her," Daniels said. "They bring little snacks home (for her)...and ask me, 'Does this have too much fat?' "

Tatiana can only eat 4 grams of fat a day. And every time she gets sick, every time she gets even a little cold, she has to return to Children's Hospital because the body's natural response is to release fat from stores and then that fat will accumulate in the blood -- something that can overwhelm and overwork Tatiana's heart because of her disorder.

"It's a lot of ups and downs," Daniels said. "Once you get there in that hospital...flashbacks just come all over again...It's just one day at a time."

Twitter: twitter.com/skbaer ___

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By Baer, Stephanie K.

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