Santa Barbara Teen Helps Researchers Battle Her Rare Eye Disease

http://www.kqed.org/.stream/anon/radio/tcrmag/2014/04/2014-04-25c-tcrmag.mp3

The Foundation Fighting Blindness is sponsoring a Vision Walk fundraiser this weekend in Santa Barbara. High school freshman Lily Wash will have her team of supporters called “Looking out for Lily” walking by her side.

Lily loves Katy Perry and hanging out with her friends. In most ways, she’s a typical teenage girl except for one thing. Lily has a disease called retinitis pigmentosa, or RP.

“The photoreceptors in the back of my eye are dying, basically, from the outside in,” she explains. “I’m kind of nearsighted and farsighted. I also can’t see at night. I just have bad vision, kind of in general.”

Lily is active in school and in sports -- she plays both soccer and lacrosse -- but the disease does impact her life.

“I just recently took a vision field test, which is a test to see how much peripheral vision I have, and I’m borderline being able to drive or not,” Lily says. “I’m going to be 15 in less than a month, so hopefully it doesn’t get worse by the time I’m 16, so I can be able to drive.”

Lily was diagnosed with RP during a routine eye exam when she was eight years old. Her father, KC Wash, recalls the moment.

“Thinking back, it was kind of surreal, because we were in a crowded ophthalmologists office,” he says. “And the doctor said, ‘oh, I need to talk to you guys. I saw some stuff in Lily’s eyes, and unfortunately, I think it it’s something that needs to be checked.’”

Wash pauses.

“It was kind of like take the breath out of the room,” he says. “We hadn’t experienced anything like that before.”

Lily’s mom, Rhonda Wash, describes their initial reaction.

“You know, we obviously started looking into it, we did a lot of Internet searching, which you probably shouldn’t do,” she says. “And then, she’s going to be blind? I mean, to have a vision issue is one thing, but to know your daughter may possibly be blind someday is a whole other story.”

Lily sees her retinal specialist, Dr. Dante Pieramici, twice a year. Pieramici says retinitis pigmentosa, which is caused by a genetic mutation, is quite rare. It affects fewer than 200,000 people in the U.S., and right now there is no treatment or cure.

“The good news is there’s a lot of research being done,” Pieramici says. “These research things that have been sort of science fiction are going to be very possible, I think, in the next five or 10 years.”

The Center for Stem Cell Biology and Engineering at UC Santa Barbara is pioneering some of that research. Dr. Dennis Clegg is the center’s founder and co-director.

“We know how to make the cell types that are missing in these diseases,” Clegg says. “And we need to figure out how to deliver them, and how to make sure that they survive and function properly. We’re making really rapid progress in that direction.”

The cells that Clegg’s lab specializes in are called retinal pigmented epithelial cells.

“When you look into someone’s pupil and you see the black color, you’re actually looking at a monolayer of pigmented cells behind the retina, and they’re crucial for vision,” Clegg explains.

Clegg’s lab is part of the taxpayer-funded California Institute for Regenerative Medicine, or CIRM. It’s one of the core facilities in the state for stem cell research. Lily and her family recently toured the lab.

“It was really cool,” Lily says. “They do this thing where you can get this test where you can get all your genes mapped, and they can find out which genes are causing it. So they can find out which type find out which type of RP I have.”

So Lily’s next step is to have her blood drawn and sent to a lab at Harvard for gene mapping. Her DNA will be compared to the known DNA mutations that cause RP. If there’s a match, her parents say, it could bring Lily one step closer to treatment.

“And we have strong hope that there will be a cure that will affect her directly, so that’s the exciting part,” KC Wash says.

The Wash family looks forward to gathering with family and friends at this weekend’s Vision Walk, which they help co-chair.

“The fact that we’re raising money to cure it is one of our biggest purposes in life,” Rhonda Wash says.

Since 2006, Vision Walks across the country have raised over $28 million to fund research to help cure blindness.

Clinical trials to treat retinitis pigmentosa may begin in five years -- something Lily Wash looks forward to.

“I’d be 19, and I would definitely be up for that,” she says with a smile. “I’m really hopeful.”

The Bay Area Walk takes place on May 31 at Golden Gate Park in San Francisco.

Find more information about Vision Walk here.