OSTON — The machine looked like a giant eyeball. There was a hole where the pupil should have been, and the technician told Jack Hogan to stick his head inside. As the white dome began to flash with light, electrical messages began zinging up from his retina to his brain — and every flicker of voltage was picked up by the electrode that had been stuck onto his cornea.
“It hurts,” Jack said, his voice echoing around the Giant Eyeball Machine.
About eight weeks earlier, in March, his eyes had been just as hollow. He’d been the first person to get an $850,000 therapy called Luxturna since it had hit the market. It was intended to replace a mutant gene in Jack’s retinal cells that impaired his vision. After the surgery, with his eyes temporarily drained of liquid and pumped full of air, he’d had to lie back for six hours, staring at the ceiling, so that the medication would pool in the right part of his retina. His mother had held an iPad above him, streaming basketball games and music until her arms got tired. Sometimes, she fed him crackers. She could only hope that the drug had worked.
Now, the family had driven five hours — from Fair Haven, N.J., to Massachusetts Eye and Ear in Boston — to find out. To start, the doctor wanted to hear the anecdotal evidence. It came with all the fits and starts and coaxings you might expect of a story told jointly by a 13-year-old and his mother.
Dr. Jason Comander sat in a desk chair, his lab coat open over a red tie. During surgeries, he slips off his shoes to control some instruments with his toes, and now his right foot jiggled, as if longing to escape the confines of his loafers. “Tell me what you noticed,” he said to Jack.
“It’s lighter in the dark,” Jack said, biting his lip, suddenly shy. The hospital had hired a cameraman to capture the events of the day, and he was maneuvering among the eye-examining equipment to get a good shot. “That’s really it,” Jack said.
“That’s not really it,” his mother, Jeanette, interjected. “What did you tell me… that day when you came home from school? You said, ‘Mom, that was the best day ever.’”
“No, I didn’t.”
“Yes, you did.”
The doctor stepped in. “Ok, Mom, you can tell the story,” Comander said.
She explained that Jack normally needed a personalized screen to help him see what was going on at the front of the class. But on April 16, a few weeks after his second eye was operated on, he could see the board without a visual aid. “It’s amazing,” she said. “He’s in eighth grade, and he’s never seen the whiteboard before.”
Later, she would show the surgeon videos of Jack playing basketball in the dark: He was now able to see enough not only to score in low light, but even to chase stray balls in the rosebushes. At night, he could go biking off with his friends instead of sitting at home with his parents.
The stories were quotidian — but that was the point. “That’s what they were telling me when he was 5 years old: ‘There’s no cure, he’s probably going to lose his vision by the time he’s 30,’” Jeanette told another family in the waiting room. Now, the everyday seemed miraculous.
The Giant Eyeball Machine was just one of many tests that would objectively measure how much his sight had changed. He followed tiny lights around other domes. He read strings of letters that became progressively fainter, until they’d faded like a skyline into the mist. He sat with a blindfold over his eyes for 45 minutes, so that his retinas would be at their most sensitive. He braved the dreaded pinprick of blood tests.
Most of these tests were proxies to look for a change in the chemistry of Jack’s eyes. Normally, when light hits the retina, it deforms vitamin A, which sets off a Rube Goldberg machine of molecular activity. The resulting cascade turns the external stimulus into electrical signals that the brain can understand. The vitamin A then gets recycled and reshaped, ready to be deformed by light once again. That was the part interrupted by the mutation in Jack’s RPE65 gene: He was missing a protein that was essential in restarting the cycle.
“Without enough vitamin A, the chemistry of vision doesn’t work,” Comander explained later. “With the gene that we put into his retina, after about a month, enough of the working RPE65 machinery is active so that it starts processing vitamin A. All of a sudden there’s all this vitamin A around.”
When he pored over the test results, Comander could see how the newfound ability to re-use vitamin A had affected Jack’s sight: He can now make sense of what is going on in places with three times less light than he could before. In one eye, at least, his vision has also grown sharper, allowing him to read smaller text. His own experience echoed what had been observed in the clinical trial: The most important result was an improvement in participants’ ability to see in low light, but for some, there was an increase in visual acuity, too.
Other recipients are exploring their new visual capabilities, too. Creed Pettit got his first eye injected with Luxturna at Bascom-Palmer Eye Institute, in Miami, one day after Jack’s first surgery. Creed had been legally blind, but is now able to read in low light and ride his bike in a way he never could before, said his mother, Sarah. “He’s able to see a lot of new things, he’s doing math work on the whiteboard at school for the first time. Everything’s changed, that’s for sure,” she said. “It’s amazing to him, but also extremely overwhelming.”
The treatment remains one of the most expensive on the market. Jeanette Hogan does not know how much she and her husband will be charged for Jack’s treatment. “My insurance hasn’t reached out to me yet,” she said. “I’m assuming there’s a co-pay or a deductible, but I couldn’t even begin to start with all that. My concern was Jack and the surgery and the follow-ups.”
Other families, with and without insurance, are still trying to figure out whether they’ll be able to get the treatment for their kids.
Executives at Spark Therapeutics, the company that makes Luxturna, expect the benefits to last throughout a patient’s life, but they aren’t sure, and have promised rebates if it stops working.
That wasn’t on anyone’s mind just then, as Jack’s long day of testing drew to a close. After he and Comander high-fived for the camera, the family got in the car, and headed back to New Jersey. Jack fell asleep after they’d hit the highway. Somewhere in front of them was Fair Haven, with its lessons on the whiteboard and tennis matches and bike rides after dusk, everyday pleasures that still felt wildly new.