A newborn screening test could be all difference between life and death

Nov 5, 2023, 10:56 PM | Updated: Nov 7, 2023, 3:18 pm

SALT LAKE CITY — A newborn screening test in Utah could be the difference between life and death. That’s why doctors at Intermountain Health are trying to bring awareness to parents about its critical importance.

KSL meteorologist Kristen Van Dyke says the test helped save her son’s life when he was born.  Her son, Wilson, is almost 4 years old, and you would never know by his energy and drive that he was so close to death. Wilson, the firstborn of Van Dyke and her husband Tom Nelson, was born on Dec. 2, 2019.

The Van Dykes thought they were going to lose their 2-day-old boy when his little 5-pound, 10-ounce body suddenly started to shut down as Wilson was being prepared for a minor surgical procedure to have a cyst removed. Doctors couldn’t figure out what was wrong.

“It was such an ordeal, and it was so traumatic,” Van Dyke said. “All these doctors and nurses and techs come running in I have no idea what’s going on.”

Even Nelson, who is an emergency medical director at Intermountain Health, was very worried.

“The uncertainty of those first few days was really difficult just seeing your child kind of languish in the hospital and nobody knew what was going on,” he said.

A rare condition

As it turns out, Wilson had a rare genetic metabolic condition known as MCAD.

“MCAD is an acronym for medium-chain acyl-CoA dehydrogenase deficiency, and it’s basically describing that he is deficient of an enzyme that everyone else has,” Nelson said.

The diagnosis was only discovered because of a critical type of screening. A newborn bloodspot test that checks newborns for 42 disorders from just a few drops of blood.

Dr. Peter Lindgren, a pediatrician at Intermountain Health, said the simple test, required by state law, can save lives.

“There are things that you can’t see,” Lindgren said. “You screen for things that you can actually intervene with, and make a difference in somebody’s life.”

The screening made all the difference

For the Van Dykes, the screening was the difference between life and death for their son.“It saved Wilson,” Van Dyke said. “Regardless of when we found out this was imperative for us to know.”

“If we didn’t have that information, I don’t think he’d be with us today,” Nelson said.

And now that they are armed with this medical information, they say it changes everything for Wilson’s future.

“He has a lifelong condition that with proper diet is completely manageable and he can live a long and healthy and happy life,” Nelson said.

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A newborn screening test could be all difference between life and death