Newborn Screening Family Stories:
I will never know for sure, but I like to think that if newborn screening for critical congenital heart disease had been available, we would have found our son Jonas's heart defects much earlier than we did. I wish I had known to ask for a pulse oximetry test when he was born. I remember seeing Jonas's heart beating at my 20-week ultrasound, which is often when heart defects are noticed. I've since learned that many heart defects go undetected on prenatal ultrasounds. When Jonas was born to us, we had no indication that anything was wrong. How we loved our second child! No one found his heart defect during his stay in the hospital, as a newborn, or during his first few months of life.
At home I called him Mr. Huff and Puff for his rapid breathing, not knowing it was a sign of a heart defect. When his growth slowed at two months, I read everything I could about weight gain in babies, unaware that slow growth was also a sign of a heart defect. At his four-month well-baby checkup, I happily handed him over to be weighed, sure that all the work I had done to keep my sleepy baby awake and feeding had led to increased weight gain. But when Jonas's pediatrician looked at his weight on the growth chart, she was dismayed—he was below the first percentile. Then, with a stethoscope against Jonas's chest, she delivered hard news: "I can hear a heart murmur."
When Jonas's cardiologist listened to his heart, he was amazed the pediatrician had heard the murmur because it was very faint. It was caused by a large ventricular septal defect—basically a hole in his heart. Small holes cause loud sounds, but Jonas's hole was so large it was almost silent. In addition, an echocardiogram detected coarctation (narrowing) of the aorta. Though he seemed fine, his heart was enlarged, and he had pulmonary hypertension.
Jonas had open heart surgery to correct his defects when he was four and a half months old. If his heart defect had gone undetected much longer than the first four months of his life, he would have had permanent heart damage. He has not recovered from his pulmonary hypertension, and we continue to face with battles for his health as a result, but I am cheered that so many people are advocating for pulse oximetry testing to become a part of newborn screening in Minnesota. I deeply wish it had been offered to my baby. Mostly I am grateful for the compassionate doctors and nurses who saved my son's life!
Note: Pulse oximetry screening for critical congenital heart disease (CCHD) was added to Minnesota's newborn screening panel in 2013. All Minnesota hospitals are now required to perform this screen.