A Rare Opportunity: A Glimpse Into Life with Visual Impairment

“Look like you can see!” Dante Priebe implores to his panicked, visually impaired sister Sofia as she struggles behind the wheel to make a three-point turn in her driveway.

“I do this horrible, 18-point turn and a cop car drives by in those three minutes,” Sofia says.

She ends up in the street and Dante yells at her to pull into the neighbor’s driveway and “act like she can see.”

The car ends up on their lawn, with Sofia shouting at her brother, “I don’t want to do this anymore!!!”

The audience laughed, and so did Sofia, as she recounted her story during a discussion at “A Rare Opportunity,” a gathering of more than 100 people to hear stories from people with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs).

Sofia is the daughter of Laura Manfre and Chuck Priebe, co-founders of Hope in Focus (formally Sofia Sees Hope), dedicated to helping people affected by LCA and other IRDs. Sofia’s parents founded the organization after her 2013 genetic diagnosis, giving hope that genetic research could produce sight-saving treatment.

Awareness is appreciated

The March 30 event, A Rare Opportunity, at Lake of Isles, North Stonington, CT, featured Nicole Kear, author of “Now I See You,” (see accompanying story) detailing her reckoning as her world blurs due to Retinitis Pigmentosa (RP), a rare disease causing slow and progressive retinal degeneration.

Nicole, of Brooklyn, NY, joined a panel discussion with Sofia, Christian Guardino and Diana Owen for an exchange about what it’s like to live with visual impairment.

In the panel moderated by Nicole’s friend, author and professor Dr. Amy Bass, the participants said they wished people would be more aware of others with disabilities.

Nineteen-year-old Christian of Patchogue, NY, said he wishes he could take part in a common teenage rite of passage.

“I think one of the biggest things is I see all of my friends driving and getting their licenses, and it makes me want to do it even more.

“But I feel like I’m saving a lot of money.”

In 2017, Christian stepped onto the America’s Got Talent audition stage and blew away the judges with his rendition of the Jackson 5’s “Who’s Lovin’ You.”

He recently released his first original song, “Waiting,” executive produced by country singing star Hunter Hayes.

Christian lived with degenerative vision due to LCA2, known as LCA-RPE65, since he was a toddler, but all that changed when he underwent experimental surgery five years ago in a clinical trial for a revolutionary genetic treatment. His vision improved dramatically with the treatment called LUXTURNA™. Spark Therapeutics developed the drug that the Food and Drug Administration approved at the end of 2017.

Independence vs. asking for help

Diana Owen, Head of School at Pine Point School in Stonington, CT, was diagnosed in her 40s with a macular hole, a condition resulting in vision changes over time.

She lives with a constant, sometimes frustrating, sense of having to work around situations to accommodate her vision.

“When my issue developed what I didn’t understand was about acuity,” she said.

Her visual acuity manifested as darkened spots, haze and distortion.

A macular hole is a small break in the macula, in the center of the eye’s light-sensitive tissue called the retina. The macula provides the sharp, central vision needed for reading, driving and seeing fine detail. It can cause blurred and distorted central vision.

Nicole said she never wanted to use a cane: “When you open the cane, this is the cane and I’ve disappeared.”

Sofia is a high school sophomore who savors independence. She has LCA with a mutation of her IQCB1/NPHP5 gene, one of the more than 25 gene mutations known to cause the disease.

“I’m very stubborn,” she said. “I’d like to do things on my own. Being blind doesn’t mean full no-vision. (People) try to help me with things and, I’m like, I got it!”

And she does! In academics, dancing and rowing. Sofia’s a spokesperson for “Remote Coxswain” technology, invented by her rowing coach, so she can row solo. The tool features a remote-controlled rudder than can be operated by a coxswain up to 500 feet away.

Transitioning to dinner, the panel and the audience heard Christian’s new song fill the grand room. Listen for yourself.

Nicole Kear: When Losing Vision, Carpe Diem?

Nicole Kear faked it for a long time.

On a romantic getaway, as her boyfriend gazed at the starlit sky, she gazed at the vast darkness. Same with the twinkling lights at the tip of New York’s Staten Island.

“I was 19 years old when I discovered I couldn’t see stars.”

That’s when the actress and future author received her diagnosis of Retinitis Pigmentosa (RP), a rare, debilitating retinal disease. Her photo receptors were dying; no treatment, no cure.

Author of the memoir “Now I See You,” Kear told her story at “A Rare Opportunity” presented by Hope in Focus (formally Sofia Sees Hope), a global advocacy organization for the Leber congenital amaurosis (LCA) patient community and for those with other rare inherited retinal diseases (IRDs), such as RP.

Hearing she’d lose her vision by age 30 came as “absolute blindsiding news.”

Kear shared her story with more than 100 people gathered at Lake of Isles in North Stonington, CT, on March 30. Sofia Sees Hope Co-Founder Laura Manfre characterized the event – which also included a panel discussion – as “a chance to hear from incredible people who have faced head-on an almost unimaginable challenge and chosen hope over defeat.”

Kear felt incredulous at her diagnosis.

She’d always chalked up any stumbles in life to being accident prone, or “I thought I was some airhead who didn’t pay attention.”

She had plans: She was going to be a star of the stage, fall in love, get married, have children.

“Nowhere in these plans was room for losing my vision by 30.”

A River Called Denial

Upon her diagnosis, Kear did what a lot of people might not have expected: “I decided not to think about it.”

Plus, she thought, by the time she turned 30, “I would be ancient by then.”

She learned to drive, kind of. Kear didn’t need a car in New York, but when she temporarily moved to Los Angeles for acting, only three days passed before she realized she’d made a colossal mistake. She drove anyway, with her idiosyncratic driving posture, prompting her sister to tell her maybe she should lean back a little, an exchange recounted in her book:

“What are you talking about?” I snapped, concentrating on my left turn.

“You don’t notice how close your face is to the windshield?”

It was true. My nose was almost touching the glass, my chest nearly pressing the wheel …

“There’s no law about sitting too close to the windshield,” I shot back. “Just sit back and enjoy the ride.”

I couldn’t see my sister’s face, but I bet she looked like she was enjoying the ride about as much as a turn on the Tilt-A-Whirl with a stomach full of corn dogs …

My uncool driving notwithstanding, I did a decent job of getting from point A to point B without dying or killing anyone. In general.

Kear fared better in restaurants than on the road. She learned to order the Caesar salad because it’s usually on the menu she couldn’t see, and she’d ditto her dining partner’s choice for the main course.

She traveled to Paris and London. She enrolled in the San Francisco School of Circus Arts where she learned to be a contortionist and earned a red nose.

“Following every rainbow, climbing every mountain,” Kear told her audience, until she finally gave up the ruse.

‘Anything Is Possible’

“I had realized that my vision had an expiration date … I could carpe diem as much as I wanted, but I had to reckon with my vision loss.”

At 33, after falling in love, marrying and having two of her three children, she faced her diagnosis and reached out to New York’s services for the blind.

The gravity of support and resources empowered her, connecting her to visually impaired people around the world.

“I know now that anything is possible.”

Kear ended her presentation by reading one of the tips that accompany each chapter of her book.

Tip #18: On glass doors. Walk into a glass door once, shame on the door. Walk into it twice, shame on you. Walk into it three times, get yourself a (*%&#*) game plan.