Newborn Screening: A Mother’s Story
September 17th, 2013
Four years ago, I was spending late September planning a future with my husband and our daughter, who was kicking like crazy in my growing belly as I entered my final trimester of my first pregnancy. I had no idea it was Newborn Screening Awareness Month. In a few days, the nurse educator would gloss over newborn screening in my childbirth class, but I would barely take note. I was so bombarded with information.
This September, my daughter should have started preschool. Instead, my life is now dedicated to advocating for the screening I found such a tiny part of my pregnancy four years ago.
My daughter Cora was born November 30, 2009. I’d experienced a normal pregnancy, normal delivery, and when she was born she looked perfect. She had the biggest cheeks I’d ever seen on a newborn. I distinctly remember the pediatrician examining her closely the day after she was born, turning to my husband and I and declaring her the picture of good health and adding with a huge grin, “She’s got some meeeega cheeks!”
For the next few days her exclamation prompted a new nickname for our daughter. We took our little mega cheeks home from the hospital at 48 hours, just after her newborn bloodspot was collected.
Just three days later, we were rushing to the hospital, not knowing that if only she had been screened with a new type of newborn screening not routinely performed in our home state of Indiana at the time, she never would have left the hospital – and would have received immediate care. Early one morning, I nursed her while my husband showered. He exited the shower, came over and stroked one of Cora’s mega cheeks, told me he loved me and walked over to the chair a few feet away. I looked up briefly, watching him take those few steps.
When I looked back down, I noticed something was wrong. Cora was limp. She was a sickening gray color and she didn’t seem to be breathing. I jumped up and yelled, “She’s not breathing, call 911.” My husband dialed, but we soon realized we were five minutes from the hospital and could get her there much quickly. We were at the hospital in less than 10 minutes from when I first looked down to my dead baby, but it was too late. She was gone.
We had no idea why, or how. A few days later, the coroner called and used a phrase I’d never heard before, despite reading every pregnancy book I could get my hands on: “congenital heart disease.”
I searched for answers. I soon learned about an advocacy push by moms across the country to screen all babies – the kind of screening that most likely would have detected Cora’s heart problem. At the time, it was simply referred to as “pulse ox screening,” named after the equipment used to screen. And while a few hospitals were screening sporadically around the country, no state was routinely screening.
Now better known as critical congenital heart disease (CCHD) screening, more than 30 states have legislation or regulation changes making it mandatory. Babies like Cora aren’t leaving the hospital untreated. Instead, more of them are getting the life-saving interventions they need, immediately.
I’m proud that Cora and I have played a small role in making that happen. After pouring over the evidence behind the screening and closely following federal efforts to add CCHD screening to the federally recommended panel, I went on a quest to pass “Cora’s Law” in Indiana.
I’m proud to say that in May 2011, the first piece of CCHD screening legislation in the nation was passed into law, with Maryland and New Jersey following within weeks. Indiana started screening every baby in January 2012, and by that spring, I met and held one of the first babies in the state saved by Cora’s Law.
Soon, I discovered a group of parents as dedicated as me with their own newborn screening stories, and their commitment to more advocacy and awareness for metabolic and hearing screening, as well as CCHD screening. I became a volunteer for the Save Babies Through Screening Foundation sometime that year, and recently joined SBTS as a member of the board of directors and as the Director of CHD Programs.
September is Newborn Screening Awareness Month. Four years ago during this health observance, I thought only people who had conditions which “ran in the family” needed to be aware. And that these conditions were rare, and wouldn’t happen to my family. I was wrong. Every parent, caregiver, and pediatric medical provider needs to learn from my mistake.
Don’t take these “simple screenings” for granted. They can truly be the difference between life and death.