A Family United: Thomas’ Hero’s Journey with CRB1
Beacon Stories
When Becky’s son Thomas was diagnosed with a rare CRB1-associated disease, their family’s world changed. But today, Becky and Thomas are embracing advocacy, community, and research as they work to raise awareness and fuel progress toward treatments and cures.
The Egan family members wearing bright colored jerseys and white helmets on their Summit for Sight fundraiser cycling across the French Pyrenees.
Life in Hoboken, New Jersey, is full of energy for Becky and Tom Egan, their teenage sons Thomas and Peter, and their two Maine Coon cats, Koki and Fireball. The Egans spend much of their free time cycling together, and they also share a love for puzzles, board games, and escape rooms. But behind the joy of their everyday life is a journey they never expected: navigating Thomas’ diagnosis of a rare inherited retinal disease caused by mutations in the CRB1 gene.
Thomas’ vision loss first appeared when he was just five years old. He needed glasses after struggling to read distant signs, but even with a strong prescription, his vision never corrected to 20/20. Regular visits to a pediatric ophthalmologist reassured the family that his condition, labeled amblyopia at the time, was manageable. Looking back, Becky remembers noticing that Thomas couldn’t see stars at night, but she didn’t know that was significant.
“At the time, we thought vision meant the eye chart at the optometrist,” Becky recalls. “We didn’t understand concepts like visual fields or night vision.”
That perspective changed dramatically when Thomas was 12. A routine eye appointment revealed swelling on his retina, and the Egans began a long series of specialist visits. A retina doctor suspected uveitis, and Thomas underwent months of treatments, including steroids, medications, and infusions, that brought no improvement. Finally, the family was referred to an inherited retinal disease specialist to “rule it out.” Instead, they left that appointment with the news that Thomas had mutations in the CRB1 gene, and the doctor told them he would likely be blind by age 40.
“I sobbed through the whole appointment,” says Becky. “I had never even heard the words retinitis pigmentosa. No one in our family had it. I didn’t sleep for weeks, worrying about how Thomas would survive without vision.”
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Thomas and his brother Peter wearing bright blue and red jerseys and white helmets standing with their bikes.
Over time, Becky and her family found their footing. They learned all about blinding diseases and connected with the Foundation Fighting Blindness. Meeting others with vision loss helped reshape their outlook.
“I realized that while I wish Thomas didn’t have this disease, it’s not a death sentence,” says Becky. “There are plenty of people who are thriving with vision loss.”
Thomas has also grown in how he views his condition. At first, he brushed it aside—being blind at 40 seemed far away to a 12-year-old. But as he’s matured, his perspective has shifted, and he’s embracing his vision loss journey. As he enters his junior year of high school, Thomas is already considering colleges where he can work with researchers on his gene.
For Becky, her son’s diagnosis has been a lesson in resilience and perspective.
“Everyone has something they’re dealing with,” says Becky. “This is just our family’s struggle. We already knew life was about relationships, but this has affirmed it for us.”
Because CRB1 is rare, raising awareness is also deeply important to her. Becky wishes more families knew the early signs of inherited retinal diseases.
“I didn’t know night vision was the first thing to go,” she explains. “We might have gotten to a specialist earlier. For years, when we thought Thomas had amblyopia, I carried guilt—like maybe if I’d gotten him glasses sooner, he’d have better vision. Getting his diagnosis, while devastating, gave me a sense that this wasn’t my fault.”
A Google search for “retinitis pigmentosa” first brought Becky to the Foundation Fighting Blindness. What began as a search for answers grew into a vital community. Today, Becky serves as Vice President of the Foundation’s New York City Chapter, and she and Tom recently became National Trustees.
“The Foundation has changed our lives,” says Becky. “It’s our number one philanthropic priority, and the most important thing we can do with our lives.”
This August, the Egans took on their most ambitious fundraiser yet: Summit for Sight, a 560-mile cycling trek across the Pyrenees from the Atlantic Ocean to the Mediterranean Sea. Some days, they climbed for seven hours on steep mountain grades.
Thomas and his dad, Thomas, wearing white helmets posing in front of a sign for Col de Marie-Blanque, a challenging climb in the French Pyrenees.
“It was the hardest thing we’ve ever done physically,” Becky says. “But I wouldn’t change it for the world. We all learned that we can do hard things. And we wanted to give Thomas the experience of seeing the vistas of the Pyrenees while he has great vision, and more importantly we wanted him to realize how strong he is.”
The event was made even more meaningful by the community that surrounded them. Friends and family joined the ride, and along the way, they met new supporters—including blind athlete and content creator Anthony Ferraro, who cheered the whole group on.
Looking ahead, the Egans are determined to keep building momentum. Their other fundraiser, Sound for Sight, will return as an annual event, and they’ll continue advocating for research and awareness. Becky also hopes to support other parents just beginning this journey.
“Find your people,” she urges. “It’s overwhelming in the beginning, and it takes time to adjust and to grieve. But having a community around you makes all the difference.”
While no one can predict exactly what the future holds, Becky feels confident in her son’s path forward. “Thomas is determined to turn his diagnosis into purpose,” she says. “We’re proud of the strength he’s already shown, and we’ll be with him every step of the way.”
