Sight and Song: The Christian Guardino Story
Christian Guardino has been singing for as long as he can remember; it’s the seeing that is something new.
This past June Christian was a contestant on “America’s Got Talent” and created an instant internet buzz not only for his blockbuster performance of the Jackson 5’s “Who’s Loving You” but also by the fact that he got a “golden buzzer” pass into the live round of competition.
Christian, who will be a high school senior on New York’s Long Island this fall, was diagnosed with Leber congenital amaurosis (LCA) as an infant. At that time, the family was told that Christian had the kind of LCA that would improve or at least not get worse. The information the Guardino family was given was not valid; LCA does not improve over time.
According to Christian’s mom, Beth, Christian’s declining vision became obvious when he was about 11 years old.
“We were grateful for the vision he had, but when we started to see his vision decline, we got concerned,” says Beth.
Looking for information, Beth found the Foundation for Retinal Research (FRR) online (FRR and FFB merged in 2016), and the family attended the FRR Conference in Philadelphia in 2012.
“It was so emotional,” Beth says of attending that conference. “We were literally by ourselves in this for all those years. To find other people in the same situation; I don’t think I had a dry eye the whole time I was there.”
The Guardinos’ experience at the Philadelphia conference, however, was bittersweet. It was where they first received more accurate information about LCA, i.e., that Christian would go completely blind. But, it was also where Christian was retested and the family learned that the cause of Christian’s LCA, gene mutation RPE65, would make him eligible for a clinical trial for an emerging gene therapy.
Christian was 13 when he entered the RPE65 gene therapy clinical trial being conducted by the Children’s Hospital of Philadelphia and Spark Therapeutics. Since then, Christian has enjoyed a 75–80 percent improvement in his vision.
“I’m still learning how to use my vision,” Christian says.
“It’s unreal,” says Beth about the treatment and Christian’s now being able to see. “It’s like something out of a science fiction movie.”
The Spark Therapeutics gene therapy is currently being reviewed by the FDA. If approved, the therapy could be the first gene therapy treatment approved for the eye and for an inherited condition.
Now the Guardinos want the same experience for other IRD families.
“We want this so badly for everyone else that we are hoping and praying and raising awareness,” Beth said. “The network of support from other IRD families is really a lifeline.”
“What’s so incredible about this experience is that it’s given me an amazing platform to raise awareness. What really makes me emotional and happy is that I’ve been able to reach people with LCA and other eye diseases and inspire them,” Christian says.
Help Christian help the entire IRD community by tuning into his performance on “America’s Got Talent”. And, you can help support the research that restored Christian’s vision by supporting the Foundation Fighting Blindness. Learn more at www.FightBlindness.org.