Simply put, early detection through newborn screening is saving lives. Baby Harri was one of the fortunate babies whose quality of life was positively impacted by routine screening.
In 2022, Harri’s parents, Laura and Mike, were excited to become first time parents. Sailing through a healthy pregnancy, they were reassured by routine testing throughout, including a non-invasive prenatal screening (NIPS) at 10 weeks. Everything checked out fine.
After Laura gave birth at BC Women’s Hospital + Health Centre, Harri received routine testing even though everything appeared normal. One test required a blood sample for testing by the immunoassay analyzer, which screens for Congenital Adrenal Hypoplasia (CAH). Laura went home with what seemed to be a perfectly healthy baby. But only hours after being discharged, they received a call from endocrinologist Dr. Gonzalo Dominguez Menendez with the news that an abnormality with Harri’s adrenals was identified. After an anxious night, they met with Dr. Dominguez Menendez to learn that Harri had CAH.
CAH is a hormonal issue where the adrenals don’t produce certain critical enzymes. But with daily medication and regular monitoring throughout their development into adulthood , it can be well-managed.
“One of the initial symptoms without early detection would have been severe dehydration because his adrenals don’t produce the hormone that metabolizes salt,” explained Laura. “But because CAH had been detected early, his doctor was able to add medication and a salt solution to his breast milk six times a day so that Harri never experienced any adverse reaction.”
Early detection was key. For many newborns, early detection can mean being able to provide life-saving intervention before it is too late. Laura has read heartbreaking stories about babies with CAH before early screening was available. “These potentially life-threatening illnesses wouldn’t be identified until their babies became sick, losing valuable time before beginning testing and diagnosis,” said Laura. “We were so lucky, because Harri didn’t need to get really sick to know that something was seriously wrong. We were able to begin the right medication before he presented any issues.”
“I can’t say enough about the care from everyone at BCWH. It was such a great experience; we received such amazing care. The entire medical team were so cognizant of being sure that we as the parents were being informed and empowered to know what was going on,” said Laura.
“We are very fortunate,” Laura emphasized. “Harri is 20 months and thriving. He is such a good kid; happy with life. I hope donors who funded the immunoassay analyzers really know how important these machines are and feel good about what they have supported . We are so thankful that Harri’s story is a happy one because of them.”
Thanks to our community of donors who have funded this powerful technology, newborns like Harri are thriving.
