One of the most dangerous and persistent problems in the follow-up of newborn screening is the “no news is good news” assumption. Closing that gap, and getting pediatricians and parents to check on screening results, has been a recent focus in education.
Even being a healthcare provider is no guarantee that a parent will have any kind of education in these rare conditions. Becca Williams is a labor and delivery nurse in Minnesota—and her husband is a nurse as well—yet they still had to look up the condition when they were told their tiny twins Grace and Sam had tested positive for PKU after their blood was taken in the intensive care unit.
“Grace and Sam were born at 29.5 weeks. They were teeny tiny, but they were perfect. My husband and I marveled at their tiny toes and heartbreaking ‘meows.’ We thought having preemie twins was hard enough. Then, our world was rocked when we were told BOTH kids tested positive for PKU, or phenylketonuria,” Becca says. “I was so confused. No one in our family has PKU. No one has any kind of genetic disorder. How could our children have this? It must be a mistake, is what I kept thinking.”
“The NICU ran the screen again, as is the protocol in a positive test,” she says. “Once again, positive. We were immediately set up with the doctor and nurse practitioner from the PKU clinic. I remember crying a lot during the first meeting. I was sad to think that my kids might never enjoy a hotdog at a ball game, an ice cream cone on a hot day, or a delicious slice of pepperoni pizza.”
As the NICU staff worked to get the twins’ phenylalanine levels down, Becca and her husband read about how to feed their children. Diet is extremely important for those with PKU, as the buildup of phenylalanine in the bloodstream can cause severe intellectual disability.
Today, Grace and Sam are happy and healthy, and busy doing all the things normal toddlers do. “We are so lucky and fortunate that our children were born in a time and place where a simple test saved their lives,” Becca says. “They turned two in October, and are busy doing all the things a normal two-year-old does! Learning new words, climbing on EVERYTHING, playing with dolls, making sounds for trucks, and giggling at Elmo. As for my husband and me, well we discovered a host of recipes for PKU – including hot dogs, ice cream, and pizza!”