Braxton is an active six-year-old who loves wrestling, baseball, swimming, and playing with his older brother. His mom, Kala, remembers having newborn screening completed for both of her sons. When her first son was born, nothing was flagged, and the family was able to simply enjoy their new baby. They expected the same outcome for their second child, Braxton. However, three days after he was born, the family received a call from a nurse at the on-call pediatrician’s office. The nurse explained that Braxton’s newborn screening result showed an out-of-range level for phenylalanine, indicating a possible case of phenylketonuria, or PKU. She told the family that additional lab work would be needed before the care team could determine next steps.
Kala remembers feeling shocked by the news and unsure where to turn. Despite being told, “Don’t Google it,” she did – desperate to learn as much as she could and eager to find other families who might help answer the flood of questions racing through her mind. What is life going to look like? Will he be able to play sports? What do you mean he can’t eat protein?
The family went in for the additional lab work right away, and a few days later they received a call confirming that Braxton’s phenylalanine levels were still elevated. At just nine days old, Braxton and his family met with specialists at Children’s Hospital Colorado who confirmed his PKU diagnosis and immediately began his treatment plan.
Value of Newborn Screening
“All of our lives would be completely different if it wasn’t for newborn screening,” Braxton’s mom, Kala said. She notes that before newborn screening was widely implemented, many children with PKU were institutionalized by one or two years of age because, if untreated, the condition can lead to irreversible brain damage. Early detection, she emphasizes, changed everything for Braxton and his family. She notes, “If it weren’t for newborn screening, I don’t think we would have known before it was too late.”
Kala’s advice for families who feel hesitant about newborn screening is to “just do it… All of the disorders that are tested for have a positive outcome if they’re caught early enough, and I would just hate for a family to pass up newborn screening and later learn that their child has irreversible brain damage because they actually had PKU, which is treatable.”
She acknowledges that many decisions about raising a child – such as choosing a school – require careful thought. But in her view, “if there’s one thing you should just do, it’s newborn screening. It’s a simple test, and it can save your child’s life.”
Sharing and Receiving Newborn Screening Results
Sharing the news that a newborn screening result is out of range can be challenging for primary care providers, particularly if they have little or no familiarity with the rare condition being flagged. According to Kala, this can also be difficult for families, who are likely to want immediate answers, reassurance, and clear next steps.
Her advice to primary care providers is to take a few moments to become familiar with the condition before contacting the family. When delivering the news, providers should offer a clear timeline for when more information will be available and direct families to a trusted resource that can provide reassurance and hope – such as a national organization specific to the condition. For PKU, for example, this would be the National PKU Alliance.
Kala doesn’t discourage families from Googling their child’s suspected condition – after all, she did the same after receiving Braxton’s newborn screening result. However, she cautions that search results can often highlight worst case scenarios and may not reflect the most current information, available resources, or typical prognosis. She notes that her own internet search for PKU didn’t even lead her to the National PKU Alliance – a resource she says would have provided much needed information and reassurance at the time.
Resources and Support
Several resources have been instrumental in supporting Braxton’s family throughout his PKU diagnosis and treatment journey. One of the first places Kala turned was Facebook groups where she could connect with other families living with PKU. These families offered hope and reassurance as she and her family navigated the fear and uncertainty of those early days.
Kala also highlights the National PKU Alliance as a fantastic resource for research, treatment developments, and community connection. The Alliance holds a conference every two years, and according to Kala, “It’s life-changing to be able to go to one of those. I’ve gone every year I can now, but they are incredible and … the best way to get connected to community. And I think that’s what people always need the most is just … somebody that gets it.”
Flok – an organization dedicated to supporting families living with inherited metabolic disorders – is yet another resource that has helped Kala, Braxton, and their loved ones with not only community connections, but also care management. The family plans to attend the flok Family Camp for the second time this year, which is “equally as amazing to attend” as the National PKU Alliance conference, according to Kala. They also utilize the flok app, a daily dietary management tool that helps them track and manage Braxton’s low-protein diet.
Now that Braxton is an active, growing boy, Kala uses the recipes from Cook for Love to give him a variety of delicious, low-protein foods. Braxton especially loves the recipe for the pumpkin brownies, which Kala makes into energy balls. For new parents adjusting to a new PKU diagnosis and asking What is my child going to eat? or What kind of ingredients will I need to buy? Kala recommends exploring Cook for Love. The website will help families understand what cooking for a child with PKU can look like – and show that there are resources to support them.
The patient assistance programs provided by the National Organization for Rare Disorders have also been an instrumental resource for Braxton’s family. Because they lack guaranteed insurance coverage for Braxton’s medically necessary formula and foods, these programs provide vital support by offering financial assistance for medications, insurance premiums, co-pays, and diagnostic testing.
When Fear Turned into Hope
Kala remembers distinctly the moment she knew everything was going to be okay for Braxton and his PKU journey. When Braxton was nine months old – on Halloween – he pulled himself up on a toy fire truck, and the thought struck her: “Everything really is gonna be okay!” She was finally emerging from the fog that had enveloped her for months – not only caring for a newborn but also learning to manage his condition and the steady stream of appointments and lab work that came with it. Now, Kala says, “It’s just a part of our life, and it’s our normal routine, and now I tell everybody else … it’s gonna be okay!”