Del Mar family dedicated to finding a cure for Usher syndrome

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

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.

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.”

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