Living With Conditions Johnny's Story

Johnny was diagnosed at 4 days old with a metabolic disorder called Maple Syrup Urine Disease (MSUD) when his newborn screening panel came back with elevated leucine levels. This disease is deadly if not caught within the first few days to 2 weeks of life. On day 5, Johnny was also diagnosed with Cystic Fibrosis (CF) thanks to newborn screening. Newborn screening saved our son’s life. Because of newborn screening and the ability to begin treating Johnny’s diseases, we have a healthy, happy, thriving 2 year old boy.  It brings me to tears to this day to think of how this screening has impacted our life and how thankful we are for those 4 little blood spots on a piece of filter paper.

By Ashely Bricker