Below is an actual letter sent by parents of a baby boy born with a genetic disorder that was caught by a routine newborn screening test. It was published here with permission from the family and the State Hygienic Laboratory at the University of Iowa. We love a happy ending.
Iowa Newborn Screening Program
University of Iowa Children’s Hospital
200 Hawkins Drive
Iowa City, IA 52242
We were overjoyed at the birth of our first child, Brody, on October 12, 2011. As a school psychologist who works with children with educational challenges on a daily basis, I did everything possible to give my child a healthy start. With a full-term pregnancy and a successful natural delivery, we took our newborn home from the hospital believing he was completely normal. However, we were shocked when Brody was diagnosed with profound Biotinidase Deficiency at one week of age.
If it had not been for Iowa’s newborn screening test, we would have been completely unaware of Brody’s genetic deficiency. Never did we imagine as healthy adults, we were both carriers of this recessive gene. The gene has been unknowingly passed down for generations on both sides, as Brody is the first child in both of our families to have the genetic deficiency.
Because Biotinidase Deficiency is 100% treatable with early detection and continuous treatment, we expect Brody to live a completely normal and healthy life. Without the newborn screening which was performed within his first few days of life, Brody would have likely began exhibiting serious symptoms including developmental delays, loss of hearing, loss of vision, coma, and even possibly death. We are humbled and grateful to live in the state of Iowa which offers newborn screening which saved Brody from experiencing significant delays and problems. He now has a chance to live a quality life full of joy, health, and opportunity. Without Iowa’s newborn screening, Brody’s future would be in jeopardy and our family could be in crisis.
Thank you so much for believing in the importance of providing this screening to Brody and all newborns of Iowa. Families, like ours, are testimonies of how this screening has positively affected our lives. We are thankful and most appreciative of Iowa’s newborn screening program.
With sincere gratitude,
Nicholas and Kelsey, parents of Brody