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All newborns undergo screening. They’re tested for dozens of conditions. But it took a decade-long fight to add one particular neurological disease to the list in Illinois. Now parents are speaking out and grateful for the chance for early detection and treatment. And their pledging to convince more states to join the fight.

Seventy days and counting —that’s how long baby Nico has been at Lurie Children’s. If not for the standard heel prick and drop of blood used to run a newborn screening test, the 4-month-old wouldn’t be at the hospital. Instead, he’d slowly be deteriorating at home with his parents likely unaware of their son’s neurodegenerative condition. That’s because early signs of Krabbe Disease mimic typical baby behavior.

Dr Barbara Burton is a geneticist with Lurie’s.

“(Behavior) like irritability, back arching — people tend to think well this is just a baby with colic or reflux,” she said. “But then you see, within a short period of time, developmental stagnation.”

In patients with Krabbe Disease, the body lacks an enzyme that breaks down several important substances in the brain. As a result, the chemicals build up and are toxic to cells — all neurologic function degenerates. Illinois began testing for Krabbe in 2017. There are only nine states that do so. It took advocates like Burton 10 years to convince legislators to add the disease that carries a life expectancy of just two years to the state’s newborn screening panel.

Jenna Anderson is Nico’s mother.

“They fought for it and because Illinois screens for it we were able to catch it for Nico,” she said.

Early intervention is critical. Once symptoms surface, it’s too late to offer treatment. A stem cell transplant offers the best chance to extend life. Donor cells contain normal levels of the critical enzyme patients are missing in the brain. The procedure is not as successful in preserving peripheral nerve function and motor skills — many children still have difficulty walking and may require a wheelchair.

“Sadly the fact that treatment is still associated with residual disabilities has been one of the reasons that some people have opposed Krabbe newborn screening over the years,” Burton said.

But when it comes to cognitive function, Burton has good news.

“Cognition, or thinking ability, and learning is very much positively impacted by transplant,” she said. “So children are able to go to school and interact with their families. Without newborn screening, there are no options there are no choices.”

“I’m looking on Google or I’m seeing that these kids can die by the age of two,” Andersen said. “Then I have these wonderful doctors telling me well he could live longer than that if we do this stem cell transplant. We had to.”

There have been some setbacks since his transplant in September including breathing and liver problems.

“That was a two-month uphill battle that he had to do and he came out of it like a champ,” Andersen said. “He’s a warrior for sure.”

As Nico continues his battle, his mom plans to put up a fight of her own.

“Spreading awareness of this disease so other states will realize, ‘Hey. We need to screen for this,’” Andersen said. “Every child deserves a fighting chance.”

Burton says many of her patients who received early treatment with a stem cell transplant are still living into young adult life, 20 years later. And there are some gene therapy clinical trials that may help patients already showing signs of disease.