By Michelle M. Forman, senior media specialist, APHL
Did you know that September is National Newborn Screening Awareness Month? Even though this simple test is performed routinely on all babies born in the United States, it is still important to understand what it tests for and what to do if your baby has abnormal results. There is no better way to grasp the value of newborn screening than through the stories of families who have lived it.
I have gone through the newborn screening process twice, once with each of my children. The nurse came, whisked the baby away for a quick test and brought her/him back with a bandage on their heel. If I didn’t work in this field, I probably wouldn’t have asked. There was just too much going on during those days in the hospital. But I did ask – and I asked the pediatrician for their results. Fortunately, my children’s results were both normal.
Yes, newborn screening is looking for conditions that are extremely rare. Yes, the odds are that your baby does not have one of these hereditary conditions. But it is possible that they do and, if caught early by this amazing public health service, they can be treated and go on to live a healthy life.
After coming to know the families who shared their stories with me, seeing my baby taken to the nursery for that little heel prick was of immense comfort. Below is a list of all of the personal and family stories we have on our blog sorted by condition. They are stories of fear, stories of close-calls and many are stories of joy. Were it not for newborn screening, these families would have dramatically different lives than they do now. But instead, they are watching their children reach milestones, win awards, graduate and even start families of their own.
Thank you to the nurses, doctors, laboratorians and advocates working on newborn screening every day!
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
Critical Congenital Heart Disease (CCHD)
- Had Michele delivered in Washington, DC where she and her family live rather than in Maryland where her OB was based, Dylan would not have received routine newborn screening for heart defects (Maryland)
- Corbin’s Heart: A Tiny Life Lost That Has Saved Many Others (West Virginia)
- Riley and Teagan, Sisters Living With Cystic Fibrosis (Michigan)
- Newborn Screening Saves a Future NBA Star (Pennsylvania)
- Despite Galactosemia, Ella Grace is a Healthy Baby Girl (New York)
- How Newborn Screening Saved Two Little Girls (Oregon)
- Two Siblings Born With Isovaleric Acidemia: One Caught by Newborn Screening, One Wasn’t (Virginia)
- A Pediatrician’s Quick Thinking Saved Maggie Grace (Texas)
- Avery’s Story: One test has completely changed her life (Utah)
- Newborn Screening Brings Out Laughter in Casey Romond (New Jersey)
Maple Syrup Urine Disease (MSUD)
- On the Verge of a Coma, Baby Carter’s Life was Saved (California)
- Evan’s Greatest Gift (New Mexico)
- Limitless Dreams for Connor and Kellen, Thanks to Newborn Screening (Wisconsin)
- Newborn Screening Gets Personal: My Niece’s Positive Screen (Massachusetts)
- Proof of the Value of Newborn Screening at Every Milestone (Georgia)
- PKU Hasn’t Stopped Elisa From Living Her Dreams (Washington)
- Screening Scores Big for These Minnesota Twins (Minnesota)
- National PKU Awareness Day: 18 Years After Diagnosis (Ohio)
- Raising Baby Caroline: Life With PKU (Missouri)
- Kevin Alexander Speaks Out About PKU and Rare Disease Day (Louisiana)
- No Story Is the Best Story (Colorado)
Severe Combined Immunodeficiency (SCID)