Parents pursue a cure
BUTLER TWP — All Bridget and John Vissari want for their 8-year-old son, Raymond, is for him to be able to see clearly.
He loves to read, to play with friends, but everyday tasks are challenging to him since he has achromatopsia, a rare genetic visual disorder that afflicts roughly one in 33,000 people. It makes him legally blind.
“I can't really read small print or see far away. So if we're riding in the woods with the quad, and my dad spots a deer, I can't see it because it's far away,” Raymond said.
The condition affects the cones of his eyes. His eyes have trouble adjusting to light, and he is colorblind with limited sight.
He has three pairs of special glasses to wear, all with varying degrees of red tint: Dark red lenses for bright daylight, a medium red tint for overcast days or evening hours, and a light red tint for certain indoor lighting that affects his sight, like fluorescent lights. He usually wears the lightest red tinted glasses in school with a hat.
“It doesn't improve the acuity issue. It doesn't improve him being able to see far away at all. But it does help him to be able to see what he's capable of outside,” said his mother. “Otherwise, he's completely day blind without his glasses.”
Because of their son's rare condition, the Vissari's founded a nonprofit organization — Achroma Corp — to help with funding research for a cure.
“Our primary goal is to raise significant funding to expedite a cure for achromatopsia. So that is our mission. We are the only identified 501(c)3 that's solely dedicated specifically to achromatopsia,” she said.
During the past two years, they've raised more than $67,000 for achromatopsia research and equipment through events such as a quilt raffle, a motorcycle benefit, and events hosted by other families such as a golf outing and yard sales.
With those funds, Achroma Corp has backed clinical trials for gene therapy at the University of Florida, which Vissari said has been a proven cure in animal prototypes, and has provided grants to the Chicago Lighthouse to fund more patients in clinical trials.They also organized a convention in Florida in June, bringing together more than 100 people with achromatopsia, along with their families.Bridget Vissari said, “We wanted to be able to provide a forum for people to be able to come in and learn about the research, learn about the progress with gene therapy, which is an actual cure for achromatopsia, learn about clinical trial status, where those things are, be able to meet the doctors that are doing the research and tour the vicinity and the lab, where they're conducting the research.“And really, just bring people the opportunity to get together as a community because it is so rare. People are so spread out.“Raymond never had the opportunity to meet another child affected with achromatopsia. So, as a part of this convention, he was able to do that.“People (attended) from as far away as Australia, Norway, Slovenia, as well as all across the United States.”Thankfully, technology helps Raymond with his visual impairments. A monitor is on his desk at school to see the teacher's Smartboard. He can move his field of vision with a remote.Another great tool has been reading e-books on a tablet. He has a lot of difficulty reading typical chapter paper books, but with e-books, he can control font size and contrast. His preferred settings include a black background, white font, with the letters about an inch high.Since the founding of Achroma Corp, Vissari said she's also found some personal appreciation from her son, completely unprompted, she said.One was a drawing and essay from his second grade class, asking what students would do with $100. He said he wanted to help cure achromatopsia with that money.Another activity was a thank you note exercise. Vissari read her son's brief explanation aloud.“Dear mom and dad, thanks for starting Achroma Corp to fix my eyes,” she said, beginning to get teary eyed.“He doesn't even know what he's missing. He's never seen the colors of a rainbow. He's never seen what we can see and take for granted everyday. But he still knows he wants to see better than he can now,” she said.“Our goal for him is by the time he's 16, he's able to apply for his permit and drive just like all of his other friends.”To learn more about Achroma Corp, visit <A HREF="http://www.achromacorp.org/" TARGET="NEW">www.achromacorp.org</A>.
