Answers at Last: How Genetic Testing Revealed Zach’s Bardet-Biedl Syndrome

Zachary (Zach) Lovell has always been known for his positive outlook and hardworking spirit. Growing up in DeKalb, Illinois, he spent countless hours at his dad’s side—building, fixing, and learning. Those moments sparked a love for craftsmanship that became both his passion and profession.

But even as Zach found joy in creating and problem-solving, he began to notice something different about the way he saw the world. In fourth grade, during a school planetarium event, the lights dimmed and the stars appeared—except Zach couldn’t see them. That moment marked the beginning of his lifelong journey with vision loss.

Soon after, Zach was diagnosed with retinitis pigmentosa (RP), which at the time explained his vision loss. But as he got older, other symptoms hinted there was more to the story —pieces of a puzzle that didn’t yet fit.

Following his doctor’s recommendation, Zach received genetic testing through the My Retina Tracker® Genetic Testing Program, a no-cost initiative by the Foundation Fighting Blindness. The results tied everything together, confirming that Zach’s vision loss was part of the rare genetic condition, Bardet-Biedl syndrome (BBS).

“Understanding my diagnosis changed everything,” says Zach. “It helped make sense with other areas of my life, too. I was born with extra digits, I’ve always had weight issues, I had kidney issues, so learning that all of that links together gave me so much clarity.”

For Zach and his family, finally having that answer brought an enormous sense of relief. His mom, who had long advocated for Zach’s health, described it as an “a-ha moment.”

Years later, when his father developed age-related macular degeneration, Zach’s experience with BBS helped his family face it with strength and understanding. And when Zach was diagnosed with kidney disease in his twenties, his sister donated a kidney—an incredible gift that strengthened their lifelong bond.

Through it all, Zach has maintained a determined and optimistic outlook.

“When you start to experience vision loss, you learn a lot,” he says. “I want to be positive, but I also want to be realistic. I take on every challenge with a go-getter attitude.”

That mindset extends beyond his personal journey. After meeting a fellow member of his community with RP, who also happened to work at the Foundation, Zach joined his local VisionWalk. Since then, he has become increasingly involved, learning about the Foundation’s funding of groundbreaking research into BBS and other rare diseases, and how those discoveries are leading to treatments and cures.

“BBS is so rare, so the fact that the Foundation is willing to fund research for it is so encouraging,” says Zach. “Without donations, the Foundation can’t do what they do.”

Zach also sees the importance of planning ahead—for himself and for future generations. As a Legacy Giving donor, he’s committed to ensuring that the progress he’s witnessed continues to grow.

“As I get older, the more I realize my vision is going to decline, so it’s important that I plan my career path and finances now,” he says. “I hope I can be an ambassador for others my age, that now’s the time to make the leap.”

Today, Zach continues to work as a structural steel estimator and spends his free time woodworking—a hobby he describes as fulfilling and therapeutic. His story reflects both how far research has come and the hope that drives the Foundation’s mission forward every day.

“Twenty-five years ago, when I got my diagnosis, doctors didn’t have a clue as to when there would be treatments and cures,” says Zach. “Now, they can point you to resources and real possibilities. That shift gives me hope—not just for me, but for everyone living with vision loss.”