Auggie – short for August – is a bubbly, active six-year-old who lives in Wyoming with his mom, dad, and three siblings. Auggie loves sports, has a great sense of humor, and enjoys helping his dad fix things. His mom, Macey, describes him as having “the best personality” and says he’s “the coolest.”
Auggie is a healthy, thriving little boy. You might never know he is living with hyperphenylalaninemia, which is a variant of phenylketonuria, or PKU – unless you catch him drinking his “milk” which is a specialized, phenylalanine-free medical formula that provides Auggie with essential protein, vitamins, and minerals required for his healthy growth.
Auggie’s Newborn Screen and Connection to Care
When Auggie was four days old, his family received a phone call from the nurse at their pediatrician’s office. The nurse said Auggie’s newborn screen returned an out-of-range result – sometimes referred to as an abnormal result – for PKU and advised them to go to the hospital to get a second newborn screen. Although their other children did not have PKU, Macey grew up with two cousins who have PKU so, she said, “Instantly, when his newborn screening was red-flagged, I told my husband, ‘I’m wondering if it’s PKU,’ … I just knew in my heart … I said, ‘we’ve got this … everything’s gonna be okay.’”
They immediately went to the hospital and had a second newborn screen performed on Auggie. Three days later, when Auggie was seven days old, the family received a call from a specialist at Children’s Hospital Colorado who told them Auggie’s second newborn screen came back out of range, and he was diagnosed with PKU.
Shortly after the phone call from the specialist, Macey and her family had a visit with the specialty care team at Children’s Hospital Colorado. The team reassured the family, explained that they would be sending a special medical formula for Auggie, and discussed next steps. The family began Auggie’s treatment immediately, starting the necessary diet and giving him the medical formula provided by his specialists. Just a few days later, when Auggie was only twelve days old, he was already within what clinicians call the “treatment range,” meaning his blood phenylalanine levels had reached the range that safely supports normal brain development and physical growth.
The Value of Newborn Screening
Thanks to newborn screening, Auggie benefitted from early diagnosis and treatment, preventing cognitive damage, seizures, and behavioral problems that can result when PKU is untreated. Auggie’s family can’t imagine how things would have played out if he did not have a newborn screen. Macey fears that without the screen, it could have been months, or even years, before they would have noticed that something was off with Auggie. Macey says, “We’re so grateful for it … We have a healthy six-year-old boy because of the newborn screening.”
Macey’s advice for other families who are unsure about newborn screening is that it is nothing to fear. She expands on this saying, “I would be more afraid of not doing it. I would want to get that treatment right away for my child, and to get them access to what they need.” Had they not been able to connect Auggie to treatment right away, Macey says, “I can’t imagine the emotional, financial stress … I don’t worry about him in life being able to succeed at things because he’s gotten that treatment.”
For Macey, the value of newborn screening comes down to early detection: it is a simple, quick process that can prevent serious harm and open the door to life-changing treatment.
Community, Resources, and Support
Community has played an important role in the family’s journey since Auggie was diagnosed. For Macey, connecting with other parents has been a source of both comfort and practical support. As she puts it, “that’s helped me a lot, having a sense of community.” Through those connections, she learned about valuable resources such as the National Organization for Rare Disorders and Zoia Pharma, which not only provides the medical foods Auggie needs, but also helps families navigate the complex reimbursement process.
That sense of connection is one reason the entire family is planning to attend the flok Family Camp, where they will have the chance to meet other families living with an inherited metabolic disorder. Macey describes the camp as an opportunity to be part of a community of families who “are going through the same thing.”
Macey also recognizes how much support has changed over time. When her cousins were Auggie’s age, resources for families living with PKU were scarce, and parents had to go to great lengths to monitor everything their children ate. Today, she has seen those resources evolve in ways that make daily life far more manageable, from simplified food lists to helpful apps. As Macey says, “We have so many resources at our hands.”
Silver Linings
When asked about a moment in their journey that is particularly meaningful, Macey said one that stands out is when she and her husband worked with their son’s care team to learn how to perform his blood draws on their own. A change they initially requested to save money and time actually “became more of a monthly bonding, and August looks forward to having that time with my husband and I, and getting his blood done.” She goes on to say, “It’s something we look forward to, seeing how brave he is, and him now knowing, like, … ‘I can’t wait to see what my levels are.’ … It’s kind of fun now that he’s older to be able to, like, have that sense of responsibility for himself.”
Living in Wyoming, it is not trivial for the family to attend Auggie’s clinic visits at Children’s Hospital Colorado. However, the family has committed to turning these trips into family adventures. Macey describes these trips saying, “Going down to Colorado, that’s kind of been our whole family trip now … We’re going down to see August’s doctors, and we make a family trip out of it. We can go to the zoo, we can … make it an adventure.”
The family also bonds over the joy of making food that will nourish the whole family. “In the kitchen, being able to bond over making our dinner – we’re not just making something for August – we’re making something for all of us and just trying to include every little person … Coming together at the end of the day in the kitchen, and being able to bond over that … that’s really brought a lot of joy to us.”
Although in the beginning, Auggie’s diagnosis was daunting for the family, Macey points out that it’s brought a lot of people, experiences, and opportunities into their lives. “It’s been, honestly, a really beautiful journey. There’s been a lot of things that we would have never experienced had we not done the newborn screening and found that he had PKU. It’s brought a lot of opportunities our way.” She wants other families to know that “You can be going through hard things, but you can still have a great, great life.”