When the weather cooperates, Edward Morascyzk enjoys hitting the links.
“A great day for me is being out playing golf with family and with my friends,” the Washington attorney said. “But they all understand that if I tried to play golf by myself, I would lose a hundred golf balls a round, because I only see a fraction of them. If the ball’s in a sand trap, I could spend 10 minutes trying to find it because I can’t see the color difference.”
Everyone’s vision tends to worsen with age, but Morascyzk, who just turned 65, also is contending with the effects of the inherited retinal disease choroideremia.
He also is contending with the knowledge that his grandsons have inherited the condition. But he has hope that they won’t have to go through the gradual diminishing of vision that he’s experienced.
“The great news is that within the last few years, there have been breakthroughs that changed the landscape completely,” Morascyzk said. “For decades, there was nothing we could do. Now, there is this optimism of genetic treatment.”
As you’ll recall from science class, genes are located in chromosomes and control various traits, such as if someone has blue eyes or red hair. Abnormalities in genes, which are passed along generation to generation, cause disease.
Advancements in science continue to break new ground in treating genetic issues such as inherited retinal diseases, according to Dr. Pamela Rath, a Pittsburgh-based ophthalmology specialist who has participated in a substantial number of related clinical research trials.
“Gene therapy is, basically, you take a normal gene that’s attached to a virus,” she explained. “The virus has the ability to infect a cell. So the virus goes into the cell and incorporates its DNA into the host DNA, but the virus has been altered so it can’t continue to infect something else.”
She added what you probably are thinking: “It’s pretty amazing.”
Gene therapy could help pave the way for youngsters like Morascyzk’s grandchildren Dante Srsic, 9, and brother Dominic, 7, to maintain vision despite their testing positive genetically for choroideremia, which afflicts the choroid, the pigmented vascular layer of the eyeball next to the retina.
“I knew early on that they could have it,” Peters Township resident Angela Srsic, their mother and Morascyzk’s daughter, said. With knowledge of her father’s eventual diagnosis – doctors originally thought he had another condition, retinitis pigmentosa – she had given herself a thorough education on choroideremia, including writing a paper about it while studying at the University of Pittsburgh.
She eventually saw Dominic displaying some of the signs.
“If it was significantly dark, I would notice that he would immediately reach for me or my husband,” Angela, who is a genetic choroideremia carrier, said. “A lot of people probably wouldn’t have noticed anything.”
The Srsics took him to UPMC Children’s Hospital of Pittsburgh, where they met with a genetic counselor.
“I will be honest. I had no idea that you could figure out exactly what this genetic mutation was,” Angela said about the cause of choroideremia, or that genetic testing was a thing.”
Although Dante displayed no symptoms – he hasn’t to this day – his parents followed the recommendation to have him tested, too.
“I am very optimistic that there will be treatments in the future,” Angela explained, “and I wanted to be a proactive mom and do everything I could do for my kids to let them be as successful as possible in life and have all the tools necessary to deal with the condition.”
Genetic testing, Rath said, can be conducted through saliva samples.
“Once you know what you have, then you know what to expect for the future. You know what the risk is to your relatives,” she said. “And then you know what’s available to you, as far as trials for potential treatment.”
In October, Philadelphia-based gene therapy company Spark Therapeutics launched a website, Eye Want 2 Know, as a digital resource for raising awareness of the need for genetic testing for people living with an inherited retinal disease, which 260-plus genes are known to cause. The site features a searchable “Find a Provider” tool to connect patients to health care professionals that can facilitate testing, which in some cases is free.
“The more you know, the better chance you have of dealing with it. And that, I apply in my practice, I apply in everything that I do,” Morascyzk said. “So the idea of, through genetic testing, being able to obtain more information to help you develop a plan, is just so empowering.”
For more information, visit www.eyewant2know.com.