4 Your Health

Newborn screening test can detect genetic disorder

CREATED Apr. 17, 2013

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MILWAUKEE - Seven-year-old Nathan Murray of Mukwonago loves to watch movies with his family.

His mom Cortney says the list of movies is endless.  "Cars , Toy Story, Wallace and Grommit.  He constantly watches the same movies over and over and over again!"

Cortney calls Nathan a walking miracle--after almost losing him just a couple days after he was born.  She recalls, “He came in, according to the cardiac surgeon, clinically dead.  So they definitely worked very hard to save him."

Nathan has DiGeorge Syndrome--a genetic abnormality.  He needed emergency heart surgery as a baby.

Dr. Aoy Mitchell, Associate Professor of Pediatric Surgery at the Medical College of Wisconsin explains, “Early diagnosis would make a dramatic difference in these patients' outcomes."

Dr. Mitchell and her research team developed the first test to screen for DiGeorge.

“We've heard story after story of patients who have undergone the diagnostic odyssey of seeing one specialist after another,” she says.

Cortney hopes, for the sake of kids like Nate, the test becomes part of standard newborn screening.  “In his case, if there had been an early screening test, he would probably not have gotten as sick as he did, and may have avoided some surgeries he needed to have."

Right now the DiGeorge newborn screening test is not required in Wisconsin.  However, it is mandatory at Children's Hospital as part of a pilot program.  The hope is to eventually expand it to the state.

Dr. Stuart Berger is a cardiologist at the Children’s Hospital of Wisconsin.  He sees Nate, and hundreds of other DiGeorge patients, regularly to monitor their heart health.

“There is a tremendous benefit to making the diagnosis early, not only from a cardiac standpoint, but for being able to discover some of the other collateral damage that could occur in association with this syndrome,” he explains.

Little Nate has had plenty of collateral damage--including multiple surgeries and developmental delays, but Cortney feels blessed every day.  “We are very thankful for everything we have, especially Nathan, he has been through a lot.”

Doctors say the screening test for DiGeorge is relatively inexpensive, and that detecting it early can help prevent costly surgeries and other complications in the future.