One spring morning in 2001, when Jana Monaco, CPH ’88, went to get her 3-year-old son out of bed, she found him semiconscious, breathing rapidly, with his eyes barely open. She called 911 and rode with him to the local hospital.
The previous evening, Monaco had tucked in a healthy, vivacious toddler who, perhaps, had a slight stomach virus. What had happened overnight?
Just 48 hours later, she learned the answer. Stephen had isovaleric acidemia, a rare genetic disorder that prohibits the body from breaking down the amino acid leucine.
Stephen’s levels of isovaleric acid, a byproduct of leucine, had risen so high that they were toxic, leaving him with severe, irreversible brain damage.
“I was in shock, but I made a promise to myself and to Stephen that I would do my best to make sure other children would not go through what he had,” says Monaco.
So she started asking questions. Monaco discovered not only that her son’s disorder was detectable but also that his crisis could have been prevented if he had been tested at birth and placed on a leucine-free diet.
I couldn't get over the idea that if Stephen had been born just across the state line, he would be healthy today.
She also learned that even though 1 in 300 babies in the U.S. is born with a disease that can be identified through newborn screening, there were no national guidelines outlining which diseases a state should screen for.
When Stephen was born, Monaco’s state of Virginia did not test for isovaleric acidemia, though neighboring North Carolina did. “I couldn’t get over the idea that if Stephen had been born just across the state line, he would be healthy today,” she says. “Some states were screening for four conditions; others were screening for 36. It was random.”
Monaco set out to change that.
She began speaking at organizations around Virginia and testified in front of the Virginia General Assembly as well as Senate subcommittees in Washington, D.C. “I felt it was important to share my experience with others,” she says. “My education at Temple laid the foundation for me to take this truly personal story and run with it to get necessary changes made.”
Finally, in 2008, the Newborn Screening Saves Lives Act passed, as did its reauthorization in 2015. The act established national newborn screening guidelines.
Today, all 50 states test for a core group of 29 conditions.
Now, as a former member of the U.S. Department of Health and Human Services’ Advisory Committee for Heritable Disorders in Newborns and Children and current member of its Follow-up and Treatment workgroup, Monaco is one of the country’s leading advocates for newborn screening.
She says her job isn’t finished: “I am currently working to get more conditions added to the national guidelines and to educate the international community about the importance of newborn screening.”
