Nine-year-old Creed Pettit has been discovering details of the world that were previously shrouded for him in a deepening darkness.
Before undergoing a gene-therapy procedure in March at Bascom Palmer Eye Institute in Miami, Creed was going blind.
His rare genetic condition, called Leber congenital amaurosis (LCA), affects the retinal cones and rods that detect light and color, according to the U.S. National Library of Medicine. It typically causes severe visual impairment in infancy.
When Creed was a baby, the setting of the sun prompted him to scream and cry, according to his mom, Sarah Pettit. Only streetlights or bright store fluorescents calmed him.
He wouldn’t look at his food and was missing every milestone, his mom said.
“The only place he was happy was outside,” she said. “He kept staring at lights; that’s all he would do.”
When he started crawling, then walking, Creed would bump into things and fall.
Repeatedly, specialists said Creed’s eyes were fine. Pettit believed otherwise.
At 2 years old, Creed was diagnosed with autism, but his mother remained certain that he was visually impaired.
Those with Leber congenital amaurosis have retinas that appear normal, even though their near-blindness limits them to seeing only vague shapes in bright light.
A therapist recommended electroretinography at Bascom Palmer Eye Institute in Miami, for a more in-depth analysis of Creed’s ability to see. It’s a key test for discovering Leber’s.
“They put him to sleep and checked his rods and cones,” Sarah Pettit said. “The doctor said Creed was legally blind. I went blank.”
Doctors at Bascom Palmer tested Pettit’s blood to determine whether the genetic abnormality that causes Leber’s was present. It was.
Despite decades of research, in 2011, when Creed was diagnosed, there was no cure for Leber’s; doctors warned her son would go completely blind.
But Bascom Palmer neuro-ophthalmologist Dr. Byron Lam offered hope.
He suggested a clinical trial for a new gene therapy underway at the University of Iowa. Gene therapy adds or replaces a gene to repair damage done by a malfunctioning gene.
After Creed’s tests showed he had the specific gene mutation researchers sought, called RPE65, Creed was one step closer to participating in the trial.
But the next step proved impossible for the then-3-year-old boy.
“They wanted him to walk through a maze with both eyes double-patched,” Sarah Pettit said. “Then, they would remove one patch and adjust light settings.”
Twice, Creed was unable to do it.
“Being in the dark for 30 minutes terrified him, and he was terrified of the patches,” his mom said.
So, they waited five years.
“You just pray that he doesn’t lose complete sight,” Pettit said. “Every day you just pray he wakes up with what he already has, because it does start to go away.”
Creed and his mom live in Mount Dora, where Creed attends a private school, but they have ties to West Volusia.
Sarah Pettit’s sister and brother-in-law, Kathy and Geoff DeBisschop, and her brother Dan St. Pierre own Central 28 Beer Co. in DeBary, where Sarah’s parents, Mary and Dan St. Pierre, also live.
The family is all celebrating Creed’s new life with sight.
“Creed’s outcome has been more amazing than any of us could have imagined,” aunt Kathy DeBisschop wrote in a text. “We definitely take our sight for granted and seeing him grow up waiting for this procedure was exciting and scary because no one was 100 percent sure how it would go for him.”
On March 21, Dr. Audina M. Berrocal, a pediatric retinal surgeon at Bascom Palmer, performed the hourlong procedure on Creed’s better-seeing right eye.
A week later, she injected the harmless gene-carrying virus into his left eye.
“It’s outstanding; it’s almost like science fiction,” Berrocal told The Beacon in a phone interview. “We’ve known about gene therapy and viral vectors — how to insert the gene that works correctly into the eye — for a long time. But we’ve gone from the bench to a patient, and the impact in the patient’s life, to see that it really works, is amazing.”
Luxturna is a naturally occurring virus whose DNA is modified to deliver a normal copy of the RPE65 gene directly to retinal cells. The cells then produce the normal protein that converts light to an electrical signal in the retina to restore the patient’s vision loss, according to the Food and Drug Administration.
“It’s not correcting vision,” Sarah Pettit said. “It’s like jump-starting a car. He needed electricity between the rods and cones. They’re erasing a bad gene and providing a good gene to make the rods and cones flicker. They just weren’t getting a signal.”
They are now.
“It was immediate,” his mother said. “And after the left eye, he was so hyper. The next day, after the patch fell off, he was just like a wild child.”
Creed — who wears prescription glasses with transition lenses to ease the sun’s glare — began asking his mom to turn off the extra lamps he’d relied on for minimal sight for his entire life.
She put away the tactical flashlights that had enabled him to do things most people take for granted, such as retrieving items from his lunchbox.
Post-procedure, he was able to easily read his favorite book, Diary of a Wimpy Kid. Before, he needed lamps and a special flashlight to make out the words.
While still in Miami after surgery, Creed really saw flowers for the first time, Pettit said.
These days, he stays outside as the sun sets. He delights in retrieving his clothes from the closet. He can navigate without help.
Pettit is surprised at the “flip side” of Creed regaining his sight.
“He’s very overwhelmed, which I didn’t expect,” Pettit said. “He’s scared to try new things more than before, and he’s had a hard time sleeping because he can see when he opens his eyes.”
Berrocal said it’s too early in the gene-therapy process to predict how long Creed will enjoy his much-improved vision.
“We’re hoping it’s going to last for a long time, but we can’t say,” she said. “Since we’re doing children, if we catch them earlier, we hope the effects will be longer.”
Creed is just happy that he can now swim underwater, he told The Beacon in a phone interview.
“And I’m not bumping into things anymore,” he added.
The highlight of his new sight? A rainbow.
“I always wanted to see a rainbow,” Creed said.
He also had a good laugh on the way home from the hospital.
“I saw a funny billboard,” Creed said, chuckling. “Your wife is hot … Turn on your A/C.”
“He was laughing so hard, and so was I,” his mom said.
Creed also enjoys seeing “my mom’s decorations all over the house.”
Some observations are not dependent upon fully functioning retinas.
“My mom’s the best mom ever,” Creed said.