COLUMBIA, S.C. – September is Newborn Screening Awareness Month, and the South Carolina Department of Public Health (DPH) is celebrating the successes of its Newborn Screening Program and highlighting stories of infants who have benefitted from screening and early diagnosis.
Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth. When such conditions are detected early, diagnosed and treated, newborns stand a much better chance of avoiding or decreasing disabilities and having the best chance for a healthy life.
For some children, like Nora Eysen, newborn screening can be lifesaving.
In 2021, Nora’s newborn screening results were flagged as abnormal for Pompe Disease. Five days later, confirmation testing verified that Nora had Infantile Onset Pompe Disease, which can be deadly without treatment.
Screening allowed treatment to begin at just 2 weeks old. Now 3 years old, Nora has grown to be strong and healthy.
“Receiving those results was not the end of our world, but instead the start of our daughter’s opportunity to thrive,” said Mackenzie Eysen, Nora’s mom. “Newborn screening gave us our best possible outcome and for that we are forever thankful.”
South Carolina added Pompe disease to its newborn screening panel just six months before Nora’s birth. DPH continues to add disorders to its screening process, now screening for 58 disorders, including cystic fibrosis and hemoglobin diseases and traits such as sickle cell.
The goal of DPH’s Newborn Screening Program is to find unseen problems that could lead to intellectual disability, abnormal growth, dangerous infections or even death. In both 2022 and 2023, DPH provided newborn screening for more than 53,000 children born in South Carolina.
“While many of these disorders are extremely rare, they can have major impacts on an infant’s health,” said Dr. Edward Simmer, DPH interim director. “Every child deserves their best chance at a long, healthy life, and screening every baby born in our state affords them that opportunity. Positive feedback we receive from parents is confirmation of how impactful our Newborn Screening Program is for families in South Carolina. I am very proud of the work our public health lab does in saving the lives of South Carolina’s children.”
Kate Franklin counts her family as one of the beneficiaries of newborn screening.
When her daughter Georgia Grace was born in April 2023, screening results came back as abnormal for cystic fibrosis. Further testing showed that she had two genetic mutations for cystic fibrosis but did not have the condition itself.
With the two gene mutations, Georgia will likely still show some respiratory symptoms when fighting colds and other illnesses. Knowing about these potential impacts gives the family an opportunity to educate and best protect their daughter.
“I am now equipped to talk with her as she gets older about what it means for her and possibly her children to be a carrier,” Franklin said. “Neither my husband nor I knew we were carriers before having our two children and feel so incredibly blessed that they are both healthy and we possess the knowledge to prepare them for their future. We will always be so thankful for the newborn screener.”
Earlier this year, DPH broke ground at the future site of South Carolina’s Public Health and Environmental Laboratory. Set to open in the fall of 2026, the 140,000 square-foot facility will provide increased capacity for newborn screenings, ensuring DPH’s ability to provide these crucial screenings for years to come.
For educational materials and more information on the Newborn Screening Program, visit the DPH website.
