Insight into a Cure

May 2013 | 1 Comment »

When Del Mar residents Jill and Evan Stone welcomed their daughter Liz back from her freshman year of college out of state, they thought they’d finally mastered the parenting thing. Specifically, the parenting of two profoundly deaf children. Sure, they’d faced plenty of challenges, plenty of doubt, frustration, anger and every other emotion imaginable when experiencing the difficulties that come with trying to bring up two children born deaf, but otherwise normal, in a hearing world. They had struggled alongside Liz through the already-awkward teen years during which socialization was made even more difficult due to her deafness. They’d recently welcomed back their son, Adam, from six years away at a St. Louis boarding school for deaf children. He’d entered middle school, and he proved to be whip-smart, even among his hearing peers. They felt they could finally settle in and relax.
“We didn’t care about deaf at that point,” Evan says, adding that both Adam and Liz now have cochlear implants that allow them to hear to a certain degree, though for cultural reasons, they choose to keep them turned off. “Deaf was irrelevant. It really was. Profoundly deaf? Who cares. The kids are fine. Being deaf is part of a culture of deafness that they’re very comfortable with.”
Then, the diagnosis came that rocked all their worlds. Liz, who was attending the Rochester Institute of Technology, a university with a very large deaf population, had heard of a syndrome that presented with symptoms eerily similar to hers. The deafness from birth, the balancing issues…and the sudden vision problems she’d begun noticing in her periphery. That first summer home from college, she asked her parents to take her for testing. She thought she and her brother had Usher syndrome, something she’d heard about on campus, since it’s not uncommon in the deaf community.
The results came back, and they were devastating: The siblings had had Usher all their lives (though, to Evan and Jill’s bewilderment, not a single deaf education professional of the many they’d worked with over the years had ever thought to mention it to them as a possibility). Usher causes deafness from birth and difficulties with balance, as well as eventual, total blindness.
Right on cue, Liz’s vision had begun to wane. Liz and Adam’s prognosis: Due to their Usher syndrome and the resulting retinitis pigmentosa (RP), they would be totally blind by their 20s or 30s. Just when they’d mastered their deafness, they were about to enter the deaf-blind world, something else entirely.
“Imagine yourself if you cannot hear and cannot see,” Evan says. “A world of darkness and a world of silence, and there’s no way to penetrate that other than your experiences. Technology doesn’t do it yet. There are wonderful things going on, but right now, this is the fear they have. This is the fear we have. Parents are powerless to do anything. The kids are powerless to do anything. Being a blind person with hearing is entirely different than being in the deaf-blind world. It is not just a double disability. It is isolating beyond anything. This is a pretty nasty thing.”
That diagnosis was 20 years ago. Adam is now 31 and a Ph.D. student in deaf education and neuroscience at Gallaudet University, a nearly all-deaf college in the Washington, D.C., area. He’s taught in Sri Lanka for a year, lived in San Francisco, earned his master’s in education at UCSD and taught elementary school in New York City. Liz is 38, a senior development officer at Gallaudet, married last year and the proud new mom to Emmet (who was, happily, not born with Usher). They’ve certainly lived full and active lives in spite of their deafness. Evan reports that, despite their initial prognoses, both Adam and Liz retain some of their vision and haven’t experienced the sudden drop-off that’s common in people their age. Liz still drives, and Adam does only when necessary. The result, though, will still be eventual, total blindness. Their periphery is full of substantial gaps, as Evan explains it. But the vision is still there. There’s still time to find a cure.
That’s why ever since Adam and Liz’s diagnoses, their parents have been stalwart supporters of vision research, hoping that a cure for RP will be found in time to save their kids from a world of darkness and silence.
In 1995, the Stones came across the Columbia, Md.-based Foundation Fighting Blindness (then called the Retinitis Pigmentosa Foundation), and since then, Evan and Jill have not only established a presence for FFB in San Diego, but they’ve raised about $1 million for it. According to Charity Navigator, FFB gave nearly $22.5 million last year, and $500 million since its inception, to the leading scientists conducting the most promising research to find preventions, treatments and cures for people affected by RP, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.
“The scientists who are funded are incredibly hard workers and really believe in what they’re doing,” Jill says. “As a result there’s a lot happening in science now. It’s changing so quickly.”
According to Ben Shaberman, the foundation’s senior science writer, FFB, which was founded in 1971, is the largest non-governmental source of research funding for these conditions in the world.
“We’re really second to none in terms of driving research,” says Shaberman, who adds that one of the scientists they’re funding is Radha Ayyagari, of UCSD’s Shiley Eye Center, who is searching for the genes that cause retinal degeneration.
It was this leadership in the field that convinced the Stones to throw their support behind FFB, first by holding small events, like a wine tasting and auction, then by asking their friends to support the cause.
“We got involved, and the more we found out, the more we realized we have to do more,” Jill says.
Over time, FFB’s presence grew in San Diego. A local chapter was formed, and FFB’s large national events came to San Diego. For the past 10 years, the Stones have been instrumental in planning them and in helping to fundraise. One of those events, called Dining in the Dark, is making its fifth annual appearance in San Diego May 22 at the Hyatt Regency La Jolla. The evening, comprised of an auction, cocktail hour, keynote address by Salk Institute President William Brody, awards ceremony and dinner, is notable for two reasons. First, a portion of the dinner is eaten completely in the dark to simulate blindness. Ironically, the servers themselves are blind.
“Dining in the Dark is a very sensual experience,” Evan says. “It isn’t just a question of eating in the dark. The food is presented to you by a person who is always blind. It’s nothing new to him or her; it happens all the time. [You’re in tune with] what you’re smelling, and then what you’re touching, because blind people touch their food to figure out what it is and where it is on their plate. … And it’s pitch black. There’s nothing for your eyes to adjust to. The doors are covered with 90-degree pathways that they tent up so no light comes in, and we have special permits from the fire department to cover the fire exit signs and all the emergency lighting they have in any large convention room. The whole thing is very different and very interesting.”
Jill and Evan, who have become national trustees of FFB, will also be honored with FFB’s Visionary Award.
“The Stones really put FFB on the map in San Diego,” says FFB CEO Bill Schmidt. “There are just no two ways about it. They were there really providing the leadership for a long time. They’ve gotten others involved, but I really think without Jill and Evan, we really would not be where we are in San Diego. We usually single out people [for the Visionary Award] who really have provided a lot of leadership and support for what we’re trying to accomplish. I would say in the case of Evan and Jill, they are certainly among the most deserving of the honorees we’re awarding this year.”

For information on the Foundation Fighting Blindness, current research into treatments, cures and preventions for retinal degenerative diseases, including Usher syndrome, or this year’s Dining in the Dark dinner, visit www.blindness.org or call (800) 683-5555.

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