Del Mar family dedicated to finding a cure for Usher syndrome

By Kelley Carlson
Contributor

In 1993, Jill and Evan Stone’s two teenage children were diagnosed with Usher syndrome, a recessive gene causing hearing impairment and progressive vision loss.

Motivated by their son’s and daughter’s condition, the couple decided to set their sights on helping discover a cure.

The Stones are among the sponsors of the fourth annual San Diego VisionWalk, a 5K walkathon set for Nov. 13 at De Anza Cove in Mission Bay Park.

The Stone family: clockwise from left, Evan, Liz, Adam and Jill

A fundraising event for the Foundation Fighting Blindness, the goal is to raise $75,000 for research that will lead to preventions, treatments and cures for more than 10 million Americans affected by retinal degenerative conditions, such as retinitis pigmentosa (RP), macular degeneration, Usher syndrome and Stargardt disease. Along with the walk, there will be children’s activities, a bounce house, outdoor laser tag, music and refreshments. Dogs and strollers are welcome on the course.

The foundation, established in 1971, is the world’s leading nongovernmental source for retinal disease research funding, having raised more than $425 million. It has funded studies at institutions such as Johns Hopkins University, Wilmer Eye Institute; Harvard Medical School, Massachusetts Eye and Ear Infirmary; and UCLA, Jules Stein Eye Institute.

As national trustees for the Foundation Fighting Blindness, the Stones raise awareness, fundraise, and seek new sources of revenue for degenerative eye conditions. And the Del Mar residents are very involved locally, where research opportunities abound through biotechs, pharmaceutical companies, The Scripps Research Institute and UCSD’s Shiley Eye Center.

The Stones’ involvement with the foundation was inspired by their children, Liz and Adam. While the Usher’s diagnosis didn’t come right away, both kids showed symptoms from birth — they were born profoundly deaf, the most severe form of hearing loss.

Everything seemed to be normal at first for Liz; it was when she started missing “milestones” such as holding her head up, crawling and standing — balance issues that are symptomatic of Usher’s — that her parents started to become concerned that something might be amiss.

“The knee jerk reaction of the pediatrician was, ‘It’ll be fine,’ ” Evan said. “Well, it wasn’t.”

One day, Jill’s great-uncle was whistling and noticed that Liz didn’t turn around in response. “He said, ‘This baby doesn’t hear,’ ” Evan said.

A doctor confirmed Liz’s deafness when she was 9 months old.

Because the Stones knew what signs to look for, Adam’s deafness was diagnosed much sooner, at 1 month old.

The Stone family learned how to deal with the condition over the years. Hearing aids didn’t help that much, Jill said. Communication occurred through lip reading; American Sign Language was introduced later on. Jill also spent a lot of time with the kids, and took them to occupational therapy, speech and hearing sessions.

At age 4-and-a-half, Adam stopped making sounds. Growing increasingly worried, Jill and Evan turned to the Central Institute for the Deaf in St. Louis, which immerses children in the oral method.

“It was incredibly difficult (for us to send him there, miles from home),” Evan said. “We went back to visit as often as we could. But we couldn’t communicate on the phone, and (Adam) couldn’t read well at age 4-and-a-half.”

Adam made great progress at the school and was speaking full sentences within a few months, and reading shortly after that.

Six months later, Liz, who had been in a program for deaf children in the Carlsbad Unified School District, started falling behind her hearing peers. The Stones made the difficult choice of also sending her to St. Louis. Liz attended the school for grades six and seven, and returned home once she was caught up.

At age 10-and-a-half, Adam also came back to Del Mar, so the Stones could spend one year together as a family before Liz graduated from Torrey Pines HIgh School and went off to college.

During the summer of 1993, Liz came home on break from the Rochester Institute of Technology in New York and told her parents that she wanted to have her eyes examined. According to Evan, Liz said that people were starting to think she was snobby, because they would wave to her and she didn’t respond.

“She realized she couldn’t see them,” Evan said.

The Stones then made an appointment to get Adam’s eyesight checked.

“We figured if one had it, the other had it,” Jill said.

Sure enough, after visits to ophthalmologists and various other specialists, Jill and Evan’s fears were confirmed — both of their children had type 1C Usher syndrome. Not only were they deaf and had problems with balance, they were progressively losing their vision. They had already lost various parts of their peripheral view.

“Fortunately, in their situation, it’s slow,” Jill said.

And neither Liz nor Adam let their disease stop them from being successful.

Liz, now 36 years old, received her master’s degree in public administration from American University in Washington, D.C., and works as a project manager and trainer at the Laurent Clerc National Deaf Education Center, part of Gallaudet University, also in Washington. She got married this past summer, and goes by Liz Nirenberg.

Adam, 30, who like Liz graduated from Torrey Pines, went on to earn a master’s degree in deaf education from UCSD, and is a first-grade teacher at an ASL bilingual elementary school in Manhattan. He also taught school for a year in Sri Lanka and makes an annual trip, even serving as a tour group guide this past summer.

Both Jill and Adam are very involved in their communities and are spokespeople for the Foundation Fighting Blindness.

“It’s not a hopeless situation,” Jill said. “They do have vision loss, but it doesn’t seem to affect that much of how they live their lives.”

But the Stones have remained hopeful all these years that a cure could be found.

“Thinking back in 1993, we thought they would soon have something to stop the vision loss,” Evan said. “Eighteen years later, we’re still waiting.”

However, a breakthrough may be on the horizon.

Evan noted that researchers funded by the Foundation Fighting Blindness recently restored vision in a dog that had a similar retinal disorder to their children through gene therapy.

“They didn’t just stop the vision loss; they restored it,” he emphasized.

Jill added that efforts have now gone to human trials and have very recently been successful in restoring some sight to 20 children and young adults.

The U.S. Food and Drug Administration recently approved a clinical trial of UshStat, a gene therapy for Usher syndrome type 1B developed by Oxford BioMedica, a “first cousin” of the gene that Liz and Adam carry. The trial will be the first human study of a vision treatment for Usher syndrome, which affects as many as 50,000 people in the United States. It will be conducted at Casey Eye Institute, Oregon Health & Science University in Portland, and as many as 18 patients will be enrolled.

“We’re hoping the treatments the foundation is working on will stop the progression or reverse it,” Jill said.

“Eventually, they will figure out ways — it’s just a question of timing,” Evan said.

The Stones became involved with the foundation in the mid-’90s, a few years after their children were diagnosed with Usher, and have been on the board of trustees since the early 2000s.

In 2003, Jill and Evan, along with a committee, launched the San Diego Blind Wine event, which has since morphed into the foundation’s local Dining in the Dark fundraiser. Held in late spring/early summer, guests eat an entree in complete darkness to simulate the experience of the blind, heightening their other senses. The servers are visually impaired, and specially trained to use a system of ropes and stanchions to navigate the dining area.

Jill said guests attempt to guess the entree afterward.

“It brings a lot of excitement — about what you’re eating, whether you’ll knock over your wine,” she said.

Silent and live auctions are also held during the event.

Jill and Evan were honorary chairs at San Diego’s first Dining in the Dark in 2008, and have served on the committee since then. The San Diego community has raised more than $1 million for research since 2003.

Along with Dining in the Dark, VisionWalk serves as a major fundraiser for the foundation; more than 50 are held around the country each year. The Stones’ extended family — including grandparents and friends — make sure to get involved with the events, and Jill’s brother and cousin have a VisionWalk team in Michigan.

Evan and Jill will be among the San Diego VisionWalk participants; their team, Rolling Stones (West), is open to anyone who wants to be a part of the experience. To join as a walker or donate to the team, contact Events Manager Cheyanne Sauter at (310) 450-2910 or CSauter@FightBlindness.org. For more information, go to www.FightBlindness.org/SanDiegoVisionWalk.

If you go
What: San Diego VisionWalk
When: Nov. 13; registration begins at 9 a.m., walk starts at 10 a.m.
Where: De Anza Cove, Mission Bay Park
Information: www.FightBlindness.org/SanDiegoVisionWalk

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Posted by Staff on Nov 2, 2011. Filed under Del Mar, Featured Story, News. You can follow any responses to this entry through the RSS 2.0. You can leave a response or trackback to this entry

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