Like Watching a Miracle
By Ava Kikut
Scheie Vision Summer 2018
It was a summer evening in 2013. The audience was waiting to hear Christian Guardino sing. The host called his name a first time, and then a second time. But Christian didn’t go onstage. He stood still, mesmerized by something he had never seen before—a white ball in the night sky.
“What’re you doing buddy?” The host had found Christian backstage.
“I’m looking at the moon,” Christian replied.
“You’ve never seen the moon before?”
When the host returned to the stage with Christian behind him, he explained the delay to the audience. “There wasn’t a dry eye in the house,” remembered Christian’s mother, Beth Guardino.
Christian was diagnosed with Leber’s Congenital Amaurosis (LCA) as an infant. “They didn’t really know what genes were causing LCA at that point,” explained Beth. “We were told that he had the type of LCA that would either slightly improve with age or remain stable.”
Christian’s limited vision posed a number of challenges as he entered school. He struggled to recognize faces of friends waving at him in the hallway, and he often worried others would think he was antisocial. “I don’t think the sighted world really understands the communication issues that happen when you’re not fully sighted,” said Beth.
In the classroom, despite always sitting in the front row, Christian could not read the writing on the board. “It was really tough for me to see and properly learn,” he recalled. Christian was especially sensitive to noise, and found it difficult to concentrate on the teacher’s voice when there were other sounds in the room. Teachers did not always understand why he was distracted. “I feel like they would seem to get both annoyed and confused,” he said.
Beth made efforts to explain Christian’s visual behaviors to teachers at the beginning of each school year, but misunderstandings continued to arise. “I think that was more of a struggle than his peers,” she said. “We would continually hear how distracted he was. Christian was such a great student and very respectful, so that was hard for us.”
When Christian was eleven, Beth noticed he was having more difficulty than usual recognizing people and objects. Despite having been assured that Christian’s vision would remain stable, Beth was certain it was declining. She decided to do more research.
Through a Facebook search, Beth found a support group for LCA patients and families, and she learned about an upcoming conference in Philadelphia. It was at this conference that the Guardinos confirmed they had been misinformed when Christian was first diagnosed. Christian’s vision was not only declining; it was likely to deteriorate completely. Without intervention, he would go completely blind between the ages of 15 and 30.
But there was hope. The Guardinos met Jean Bennett, MD, PhD and learned of a clinical trial for a treatment targeting a specific genetic mutation—RPE65. If Christian’s LCA was caused by an RPE65 mutation, he would be eligible for the clinical trial, and his vision could potentially be saved by gene therapy. During the conference, Christian underwent genetic testing.
In March 2013, just before Christian’s 13th birthday, the conclusive report came from the lab. Christian did indeed have the RPE65 mutation, qualifying him for the gene therapy trial. The treatment was scheduled during summer break three months later.
Christian was eager to take part in the trial. “I wanted to stop that inevitable blindness. That was my main goal,” he said. But when he woke up from the surgery in June 2013, he realized the procedure did much more for his vision than he had expected. “It was crazy because I already saw results as soon as I woke up from the gene therapy. I remember waking up in a really dark room and I looked over to my left and there was this little lamp light. And one of the tech coordinators there, her name was Dominque, and I said, Dominique is that you? And it was her. And I would never have been able to see in a room that dark.”
Just a couple weeks later, Christian found himself performing on an outdoor stage in front of an emotional audience, having just seen the moon for the first time.
When he returned to school that fall, Christian could recognize people as they waved at him in the hallway. His experience in the classroom also improved. “I’ve been able actually to see the whiteboard much better,” he said. Christian, who graduated from high school in the spring of 2018, is now taking time to focus on his singing career before going to college for music or film.
While Christian’s limited vision never deterred him from singing, the improvements to his sight since the gene therapy have given him more freedom onstage. Beth noted, “Before he would have to be led onstage to perform because it was too difficult for him to see. Now he just walks right out there and does his thing. It’s made a huge change in his confidence.”
In 2014, Christian became the Grand Prize Champion at the Apollo Theater’s “Amateur Night at the Apollo Stars of Tomorrow” category. In 2016, he sang the national anthem at the NY Islanders playoff. That same year he performed a duet with Jordin Sparks for Michelle Obama’s “Fit 2 Celebrate” Gala. And in 2017, Christian stunned the audience and judges of America’s Got Talent, earning the Golden Buzzer from Howie Mandel. Christian was named Youth National Champion by the Children’s Miracle Network Hospitals and a Vision Hero by the Vision of Children Foundation. He is currently working on a project with Grammy nominated songwriter Sacha Skarbek.
“It’s been a dream come true,” Christian said. Beth added, “To go from thinking your child would never see your face to where we are now…it’s literally like watching a miracle. That’s exactly what it is.”