Pompe: The Difference Early Detection Makes

Families, partners, and newborn screening champions gathered at CDC to tour the newborn screening laboratories and share their experiences. Newborn screening became important to me when my youngest son received an abnormal newborn screening result, and it was that result that completely altered the trajectory of his life. Through that result, I ended up being diagnosed with glycogen storage disorder type 2, also known as Pompe disease. And because of that early diagnosis, my son had access to early treatment, and that has allowed him to reach his developmental milestones and be able to keep up with his siblings and his peers and truly enjoying life to its fullest. Newborn screening is an opportunity to check your child's health for conditions that you wouldn't realize are there, and conditions that may be easily dismissed early on and develop in a chronic fashion over time. It also allows you to intervene very quickly when there is potentially a very severe condition present. And what sometimes is missed is that families don't realize that these conditions that their children are being screened for, there's an opportunity for intervention and treatment to improve the lives of those children. Early intervention for my son meant that we were able to receive early screening. He had his heart health checked. He had the health of his lungs checked just five days after he was born, and that gave us peace of mind in knowing where he was at with his condition, and it allowed us to continue on with monitoring. And it was through that monitoring in the first two months of his life that we realized that our son did in fact need to start treatment for the condition that he was ultimately diagnosed with. Because of newborn screening, we were able to recognize these things and intervene in a way that allowed our son to have the best start. For more information about how CDC supports newborn screening, please visit cdc.gov forward slash newborn dash screening.