When the Baby is Not OK: Why Newborn Screening Matters

Pearl Buck, the first woman to win a Pulitzer Prize in literature, had a daughter who was disabled with PKU, phenylketonuria. It was in a time when we did not have universal newborn screening, and her baby was not OK. I’m remembering her and The Child Who Never Grew, a short book she wrote about her daughter today, on International PKU Day, also Newborn Screening Day.

Is the Baby OK? Newborn Screening

Nearly every newborn in the US has a heel prick blood test these days. And although many of us parents don’t give it a thought afterwards, that blood test is used to screen babies for inherited genetic diseases. That includes PKU. It is more important than many of us can imagine.

The Child Who Never Grew shows how vital universal newborn screening is today. It is a mother’s tragic, first hand account of her child who although born normal, became disabled as she grew. The baby developed physically but not mentally. The author gives a glimpse into her private world of pain, deciding how to best care for her daughter. Writing her other hugely successful books was how Pearl Buck financed the care of her disabled child over the years.

I didn’t know Pearl Buck was a great author nor that her child had PKU when I first found her books. I read The Good Earth as a little girl, a book my mother’s brother sent to her. He lived in China at the time and was always sending her little treasures like that. I loved that book, though when my uncle found out I had read it, he was dismayed. Kind of a grown up book. Of course at the time, we also had no way of knowing Pearl Buck and I would share having a child with PKU.

The Baby Heel Prick: PKU Testing for Newborns

Robert Guthrie developed the first test for PKU in newborns in 1960 and that changed everything. It is his birthday, June 28, that we celebrate International PKU Day. After testing, the early diagnosis and constant treatment of PKU can mean a normal and healthy life. Without testing, there is no diagnosis.

Infants who have PKU break down protein they drink (mother’s milk or formula) differently than others do. Because of that, a toxin from protein (called phenylalanine) builds up in their blood and urine. That’s where the name comes from, phenylketoneuria, PKU.

I myself have two daughters with PKU, diagnosed a few days after birth. Both my daughters were treated successfully in infancy and childhood with a low protein diet. Yet it is only thanks to newborn screening for PKU that their outcomes were so much better than Pearl Buck’s daughter’s. I hope more and more places will have universal newborn screening available to them in the future.