When My Newborn Screening Test Wasn’t OK: a Rare Disease Day Story

Every baby gets a newborn screening test, not every mother gets the news that the baby is OK. For me, the news was that baby needs a second test. And a third, and so on for 26 years. For Rare Disease Day, my daughter Lillian Isabella and I talk about how this actually happened.

In U.S. hospitals, baby’s first test is a heel prick to look for rare diseases, most of which are inherited genetic diseases with no cure. Mom’s sign a release when they check in, and many of us new mothers never give it a second thought.

And much as we fear the news, finding out if you’ve passed on a hidden rare disease can make the difference for the child’s health, happiness, and very survival.

I found out at day 9 for my first daughter that I carry PKU, and day 21 for my second daughter. The newborn screening test showed they each had signs of PKU. Only one in 10,000 babies are born with phenylketonuria, PKU. With this rare genetic disease, the baby is just fine during pregnancy inside mom, but on her own after birth, baby can’t digest protein in mother’s milk (or formula). Toxic levels of phenylalanine build up in the newborn’s blood even within the first 24 to 48 hours when the heel prick comes along to collect baby’s blood.

PKU has no cure, but early treatment means everything for this rare disease. Treated, PKU children have few or symptoms of their condition, or none at all. But if it goes undetected, the child may develop nerve and brain damage, and live with disability.

For my family, newborn screening provided two miracles in one lifetime, and today both my daughters are amazing women living healthy lives with PKU.