From Diagnosis to Opportunity:A Mom's Reflections on Parenting a Child With Medical Needs Over the Last Decade

A Note of Gratitude: To the many PKU parents — especially the moms — who paved the way for children like Johnny to live life to their fullest potential: thank you. Your advocacy, perseverance, creativity, and relentless love have shaped a world where milestones like this are possible. This moment belongs to all of us.

08/11/2025    

By: Julie Bolduc DeFilippo, PhD, MSW, LICSW  

Mom of Johnny! 

Ten years ago, my oldest son entered our lives. A few days later we began a journey defined by careful planning, daily medical care, and a constant balancing act. But because his condition was detected early through newborn screening, we also began that journey with something every parent deserves: the chance to hope.

Aug. 2015: New Vocabulary Word

Ten years ago, on a hot August morning, I sat in a small office at Boston Children’s Hospital with my partner, holding my five-day-old son. We were there because of a phone call — the kind no new parent expects — telling us something had shown up on his newborn screening (NBS).

That day, a doctor spoke the word phenylketonuria for the first time in our lives. PKU, a rare metabolic disorder we’d never heard of, was now permanently part of our family’s vocabulary. I remember gripping the edge of the chair, trying to focus on what she was saying: the special diet, the medical formula, the lifelong monitoring. My newborn slept in my arms while my mind spiraled through the years ahead.

Somewhere in the middle of all the information, she paused and said something I’ve never forgotten:

“Every dream you have ever had for your child will still come true.”

Aug. 2025: Medical Innovations in PKU

Next week — ten years later — we will meet with that same doctor. This time, not in a small hospital office, but across the computer screen, 2025-style! And I can’t wait to tell her she was wrong — because the past ten years with my son have surpassed anything I could have imagined on that hot August morning 10 years ago for our relationship and for the person he has become. The light, meaning, and renewed hope he’s brought into my life, and into the lives of so many others, are beyond measure.

The reason for this upcoming appointment feels almost poetic. Later this week, just days after my son’s 10th birthday, we’ll meet to discuss a brand-new treatment for PKU — sepiapterin — which the FDA approved for children and adults with PKU on July 28, 2025. It’s a milestone the PKU community has been hoping for long before my son’s birth.

It’s hard to explain what this means unless you’ve lived it: the years of weighing every gram of protein, the daily struggles over medical formula — often pulling him away from play — and the constant mental load of planning every snack and meal in a world not built with PKU in mind. The helplessness you feel as a parent when you can't get a medical formula or food order through insurance approvals in time - if at all. Most of all, it’s been watching him, as he’s grown older, hide his feeding differences from others, sometimes choosing to be hungry rather than eat medical food in front of peers. His ability to thrive has always been tethered to how closely we could manage this invisible line. This treatment could move that line.

What This Means: Milestones like this don’t happen in a vacuum. They happen because of science, advocacy, policy — and because someone decided that every baby’s life was worth screening for treatable conditions. My hope is that as we celebrate new treatments, we also fight for the systems that make early diagnosis possible for every child. 

The Power — and Fragility — of Newborn Screening

The timing also feels complicated. Just a few months ago, the federal advisory committee that helps guide state-based newborn screening programs was dismantled by the Trump administration. Without it, the process of adding new conditions to screening panels — or updating standards for current ones — is slower and more vulnerable to political interference.

I can’t help but think of the families who might not get the early diagnosis we did — the ones who might not be able to start available treatments early before harm becomes irreversible for their newborn. 

Moments like this hold gratitude and grief at the same time. Gratitude for a medical breakthrough my son will directly benefit from. Grief for the inequities that still shape who gets diagnosed, who gets treated, and who gets to celebrate milestones like this.  Access to medical care should not be a privilege but a human right.  Hope should never be rationed. 

A New Chapter of Hope

Ten years ago, I walked out of that office holding a baby and a diagnosis I didn’t yet understand. Now, I am accompanied by a 10-year-old who has grown into himself in ways I couldn’t have imagined — creative, funny, endlessly curious — being exactly who he was meant to be in life, which is the only dream I ever had for him in the first place. 

This time, I get to walk away reimagining the new possibilities the next chapter might hold for my son — and this is because of his medical condition, not despite it. Early screening gave me the gift of possibility — not to “fix” my son’s disability, but to hope for new ways he might build a life rich in meaning and choice.