Still Searching: A Mother’s Perspective on an Undiagnosed Journey

By Carrie Borrello

I can still see the baseball field. I remember the sun, the sound of the crowd, the smell of the dirt. Evan had called a timeout and took a knee—a small moment, but not for him. He collapsed. Right there on the field, in the middle of the game, my son went down. And life changed.

That was his first stroke.

We didn’t know it then, but that moment marked the beginning of our journey. From the cheers of the baseball field, we went straight to the silence of the ICU, where we spent a week not understanding what had happened—only knowing that something had gone terribly wrong.

Since that day, Evan has remained undiagnosed. We’ve lived in the unknown for more than eight years. And I’ve learned that the unknown can be more terrifying than any diagnosis.

We’ve seen doctors—so many doctors. We’ve sought second, third, and even fourth opinions. We’ve traveled from Tennessee to New York, chasing the best care, the best answers, the best chance at understanding what’s happening to our son. We’ve watched specialists puzzle over his scans, shrug over his labs, and gently say, “We don’t know.” And I’ve watched my son try to make sense of it all while managing pain, fatigue, neurological symptoms, and the weight of not having a name for his disease.

There’s no roadmap for parenting a child with an undiagnosed condition. There’s no chapter in the parenting book that tells you how to be a nurse, researcher, advocate, and emotional anchor all at once. But you do it. Because you have to.

Evan has endured so much, but thanks to IVIG infusions, we’ve finally found some stability. Stability doesn’t mean normalcy. It means fewer falls. It means fewer emergency room visits. It means we get to breathe a little deeper between the appointments. Still, his symptoms made it impossible to attend school full-time. We transitioned to homeschooling—not because we gave up on traditional education, but because he simply couldn’t make it through the day. Then the pandemic hit, and keeping him home became not just about energy, but safety. And so our world got smaller, tighter, and in many ways, more tender.

Somewhere along this road, I stopped being just Evan’s mom. I became his medical historian, his interpreter, his fierce protector. I even changed careers. After more than two decades in education—teaching in public schools and running my own school—I went back to graduate school to become a health advocate. I did it not only to better help my son, but to help other families walking this same uncertain, often isolating path. Because no one should have to navigate this alone.

Eventually, we came across the Undiagnosed Diseases Network. They took a thoughtful approach and were open to digging a little deeper when things didn’t add up right away. While we didn’t find clear answers, we did find a space where others understood what it felt like to be searching.

Evan is remarkable. He’s wise beyond his years, steady in a storm that would rattle most adults. He leads with quiet strength. He jokes. He cheers on his friends. He works hard. He advocates for himself. And he dreams, even when he doesn’t know what tomorrow will bring.

Not only has Evan shown resilience—he’s created stability in the most uncertain of circumstances. He has found an alternative path to ensure that his dreams still come true. He’s refused to give up. He’s chosen to keep going, to keep believing, to keep building a future even when the road ahead isn’t clearly marked.

And that—that is what keeps me going. That is what keeps inspiring me, every single day.

There are days this journey breaks me open. Days I wish we had a name. A treatment plan. A cure. But in the middle of all this uncertainty, there’s also something else: hope. Not naïve hope—but the kind that’s forged in hospital rooms, in late-night Google searches, in whispered prayers, and in the arms of a boy who refuses to be defined by what we don’t yet know.

We are still searching. But we are not lost.