Newborn Screening Family Stories: Nora's Story - Minnesota Dept. of Health

Newborn Screening Family Stories:
Nora's Story

Image of NoraFrom the moment we saw the long-awaited positive pregnancy test, we did everything "right." I ate organic foods, exercised, took vegan prenatal vitamins, and went to every doctor appointment. Every ultrasound—including a clear fetal echocardiogram of our baby's heart—showed a healthy baby.

The day of our daughter's birth was filled with joy, anticipation, and excitement. The moment we had been awaiting for years was upon us; we were about to hold our baby girl. Nora Rae was born at 7 pounds 8 ounces, yet our love for her was too big to contain.

Our hospital staff took Nora for an in depth assessment at 12 hours old. Nora received a pulse oximetry screen in which a small Band-Aid like strip was wrapped around her foot to measure her blood oxygen content. The painless test took only a few minutes. Unfortunately, although Nora appeared healthy on the outside, the test showed Nora's blood oxygen saturations were dangerously low. Nora was immediately rushed to the hospital's NICU where she was diagnosed with Total Anomalous Pulmonary Vein Return—a life threatening congenital heart disease that was undetectable on her fetal echocardiogram.

Early detection, monitoring, and open heart surgery at 10 days old gave Nora the best chance for survival. Nora is now a thriving infant: strong, healthy, and tenacious. She should have a normal, healthy life like any other child—she'll just have a scar on her chest as a reminder of how lucky she is. Children with similar congenital heart disease whose conditions go undetected and untreated have much poorer outcomes—the condition is fatal if not fixed.

With the shock of such a diagnosis, the worry of surgery, and the stress of recovery behind us, our remaining sentiments are that of gratitude and humility. An inexpensive, non-invasive screen saved our daughter's life. We live in a community dedicated and poised to detect such ailments, and have facilities and clinicians skilled to fix our baby's heart.

All babies should be so lucky.