Among blind people, says Kim Charlson, asking if you’d prefer to see always starts a lively debate: “Every opinion is going to be different.” Charlson, who lost her sight at age 11 and now is president of the American Council of the Blind, says she would hold out for full color vision. Others might settle for seeing in blurry black and white. And yet other blind people might have no desire to see at all.
For a small number of blind people, this hypothetical question recently become a real one.
Last week, the Food and Drug Administration approved Luxturna, the first gene therapy to treat a specific form of inherited blindness called Leber’s congenital amaurosis. In fact, it’s the first gene therapy to treat any inherited disease at all. The news has been universally hailed as a scientific breakthrough. But its stratospheric cost—potentially $1 million per patient—has provoked hard questions about the value of the ability to see, especially if its effects are only partial and temporary, as may be the case with Luxturna.
Spark Therapeutics, the company that makes Luxturna, has yet to set an official cost. But the $1 million figure comes from a November earnings call, where the company’s CEO, Jeff Marrazzo, suggested the high cost is justified in part by the earnings patients and their caretakers could gain. He cited the National Federation of the Blind to note that 70 percent of working-age Americans who are blind are unemployed. “This economic reality of unemployment reminds us of a wonderful real-life example of the value of Luxturna,” said Marrazzo. One woman in the Luxturna trial regained enough vision to get her very first job at age 38.
The National Federation of the Blind took issue with being cited this way. Chris Danielsen, a spokesperson for the organization, says Spark was “relying on erroneous and harmful notions about the capacity of blind people to live the lives we want.” Research into specific eye diseases is well and good, he says, but the high unemployment rate among blind people is due to “society’s low expectations for the blind” and lack of training for skills like cane travel and reading Braille that would help them lead independent lives.
“It’s not like we’ve been sitting in rocking chairs for decades, and we’re waiting until we can go the hospital for the treatment,” says Stacy Cervenka, who was born blind due to an undeveloped optic nerve. “Blind people have lives that are as busy and chaotic and full as any sighted people,” she says. Cervenka is an executive officer for the California State Rehabilitation Council, and her husband, who was blinded by a gunshot wound, teaches blind people how to get around.
She credits such training for their independent lives. When we spoke, they were preparing to take their 4-year-old son on Amtrak for a holiday vacation. “From a purely fiscal standpoint of getting the most bang for your buck, the government could do so much more good for so much less money by providing vocational rehabilitation,” says Cervenka.
Cervenka is not opposed to gene therapy to treat blindness, but she wanted to emphasize the trade-offs. Aside from the potential seven-figure price tag, the therapy comes with risks from injecting into the eyeball, plus it takes time to travel to a hospital that offers it. In the meantime, she asks, “Who’s taking care of your kids? Who’s doing your job?” For her, it’s not worth the hassle for only partial vision, but she would consider it if her vision could be good enough to drive—the one place she feels like being blind actually impinges on her life.
For some people who are blind, particularly if they have been blind since birth, gaining sight can actually be a bizarre, disruptive experience.“It isn’t like you can turn on a switch and someone who hasn’t seen would be able to see, because their brain doesn’t know what vision is,” says Charlson. People who have regained sight, such as through a corneal transplant, report being unable to recognize objects until they pick them up in their hands—as they had been doing their whole life.
Charlson says Luxturna is very promising, and she hopes gene therapy can be developed to treat other forms of inherited blindness. For now, Luxturna can only help people who are born with one specific mutation (RPE65) for one specific disorder (Leber’s congential amaurosis), one of dozens of conditions that can cause blindness. It is for this reason that some blind advocates take such issue with Spark’s justification of a $1 million value. They don’t want it to be marketed using language that comes at the expense of blind people now, most of whom the treatment cannot help.
This has been a perennial tension. In 2016, the Foundation Fighting Blindness, which funds research into retinal degenerative diseases and backed some of the research behind Luxturna, released a series of videos for its #HowEyeSeeIt campaign. One video featured a scene of kids at the playground going dark, asking viewers to contemplate being unable to take kids to the park. An outcry ensued. In response, Cervenka filmed and uploaded a video of her and her husband taking their son to the park. “It’s the worst video—a blind person with an iPad,” she joked. But she made her point. She could take her kid to the park just fine.