He was born on a Thursday morning in the summer of 1996 – all 7 pounds, 1 ounce, and 18 inches of him. He had a long big toe and a mop of dark hair and bright blue eyes, and he was perfect…for 8 days. It turned out that our beautiful, happy, healthy-looking boy had Phenylketonuria, or PKU for short. His liver was missing something that it needed, and he would have to make many adjustments in his life because of it. There was (and still is) no cure. Literally, in one moment, our son went from ‘normal’ to ‘different’, ‘healthy’ to ‘sick’, ‘perfect’, to ‘not-quite perfect’. It was scary. We were uncertain and nervous and confused; it was the most raw, anxious, and emotional time of our lives.
Thankfully, PKU was one of the five (yes, only five) diseases the state of Kansas tested for at birth in 1996 (along with galactosemia, hypothyroidism, sickle cell anemia, and hearing). That newborn screening for PKU saved my son’s future, and possibly his life. Fortunately, the Kansas newborn screening panel now includes all 29 diseases recommended by the American College of Medical Genetics. In addition, Kansas has a comprehensive system in place to support the 2,000 (or so) babies who are identified through newborn screening each year, including: follow-up, diagnoses, management, education and evaluation. Rainbows services are part of that system!
September is National Newborn Screening Awareness Month – and we can celebrate knowing that we live in a state that understands that newborn screenings save lives, plain and simple, and I know how that feels personally – some of you do too! Fast-forward 19 years and that beautiful, happy, healthy-looking boy is just that! He’s in college studying dietetics, living a normal life with a lot of adjustments, but aren’t we all? It’s the basis of humanity – that our amazing, resilient, individual bodies are flawed, yet wonderful. We’re a group of imperfect people living in an imperfect world, doing the best we can do with help from each other. And I love that! This post was written by Margaret Domnick, Speech Language Pathologist.
