After being diagnosed with a rare genetic retinal disease in May of 2022, Plymouth Whitemarsh High School student Ava Ruggiero was scared. But in just a few short months, she turned that fear into action by raising approximately $24,000 for an organization that she and her family have turned to for support.
Ava was named the top individual fundraiser and her supporters, Team Ava, were the top fundraising team in the region as part of the Foundation Fighting Blindness’ annual Philadelphia VisionWalk, which was held in October near Independence Mall.
“I did the (fundraising) because I wanted to help myself and other people who have it, too,” she said.
Ava has retinitis pigmentosa, a condition in which the cells that make up the retina slowly die off, leading to vision impairment and, eventually, blindness. The disease was detected during a routine eye exam, said her father, Joe Ruggiero. After being referred to a doctor at Penn Medicine, Ava went through a battery of tests to confirm the diagnosis.
“At first, it was, like, scary,” said Ava. “But once I got used to having it, I figured I’m just going to keep pushing forward. I’m just trying to keep fighting through it.”
For her father, hearing the news was crushing.
“It was one of the hardest moments of my life. At the UPenn appointment, Ava whispered to me, ‘Am I going to go blind?’” he recalled.
The diagnosis, while unexpected, did help to explain some of the stumbles Ava was prone to when she was in low light situations. A lot of tears and anxiety followed in the months after the visit to Penn, but the family banded together to learn as much as they could about the disease and quickly connected with the Foundation Fighting Blindness. They decided to raise money for the Foundation, since 70 percent of the funds donated to the organization go to research, said Mr. Ruggiero.
That research is going to be critical for someone like Ava. Retinitis pigmentosa is a genetic disease that is passed down and is caused by a mutation in a gene. Many known mutations can cause the condition, said Mr. Ruggiero, and therapies are being developed where the affected gene can be replaced with a good copy. However, the genetic testing Ava went through was unable to determine what gene is affected in her. For now, Ava is being encouraged to live her life as she would without the diagnosis, because her vision is not severely impaired.
“She’s pretty minimally impacted at this point,” said Mr. Ruggiero. “In most cases, (this disease) leads to legal blindness but at what pace that happens is variable.”
The doctor has recommended that she wear sunglasses whenever she is outside to prevent further retinal degradation. Mr. Ruggiero said that was something Ava was a bit embarrassed to have to do when playing field hockey, since she feared she would stand out from the rest of the team. Eventually, she explained to the team why she had to wear the glasses, and her fears were alleviated after receiving a lot of positive support from her teammates and coach.
Those teammates also showed up in large numbers at the walk, and contributed some of the loudest cheers to be heard at the ceremony following the walk.
“It was really fun because I had the whole team there to support me,” she said.
The fundraising efforts of Ava and her family extended well beyond the race day. They organized an Eagles watch party at the Conshohocken Bocce Club and raised $10,000 in one day through a raffle and other donations. They have also sought donations via social media and Ava also set up a lemonade stand in her neighborhood.
“When we started, we had no idea what to expect,” said Mr. Ruggiero. “Our goal was to raise $3,500. Within a week of posting information, we had met that. We are so extremely grateful for everybody who has and continues to support her.”
The family intends to continue raising money for the Foundation and plans to walk every year in the Philadelphia VisionWalk. To support Ava and the Foundation Fighting Blindness, you can still make a contribution here: https://give.fightingblindness.org/fundraiser/4021170.