Seeing hope: Ledyard nonprofit focuses on rare retinal diseases
Ledyard — She’s 17 now, and doesn’t see well. Never did.
But Sofia Priebe and her parents, Laura Manfre and Charles Priebe, are hopeful that genetic researchers will find a cure for the rare retinal disease that has impaired her vision since birth, eventually leaving her legally blind.
Time could be growing short. The prognosis for those with Sofia’s disease, a form of Leber congenital amaurosis, or LCA, is total blindness.
“When she was born, everything was happy, normal,” Manfre said. “Then, within a couple of years, as she became more mobile, we could tell she was having trouble seeing.”
During the diagnostic journey that ensued, Sofia underwent a brain scan that ruled out tumors and an electroretinography test, or ERG, which provided a suspected LCA diagnosis. In 2013, genetic testing confirmed the diagnosis and identified the mutated gene, IQCB1, that was the cause of Sofia's disease. A renal retinal gene, it also can cause kidney disease.
Along the way, Sofia’s parents were told their daughter might retain some “perception” through her high school years, perhaps into her 20s. They were told there was nothing they could do, that they had to accept Sofia's fate.
Instead, they founded Sofia Sees Hope, a global nonprofit that since 2014 has raised and contributed nearly $400,000 for genetic research and genetic testing for those with inherited retinal diseases, or IRDs; provided seed money for My Retina Tracker, a patients’ registry; and sponsored conferences and fundraisers connecting patients and their families with the rare inherited retinal disease community.
“If there’s a way to fix this, we really, really want to,” Manfre said.
A major breakthrough
Research into IRDs began in earnest about 50 years ago, according to Brian Mansfield, executive vice president for research and interim chief scientific officer for Foundation Fighting Blindness, an organization that Sofia Sees Hope supports.
In the United States, some 200,000 people have an IRD. About half of them have some form of retinitis pigmentosa-like illness, of which LCA is one. About 4,000 people in the country have LCA, which researchers now know is caused by one of at least 27 different gene mutations.
At the moment, Mansfield said, there’s a lot of interest in developing gene-specific cures.
A major breakthrough occurred in 2017 when the U.S. Food and Drug Administration approved Luxturna, a gene-therapy treatment for an inherited retinal disease caused by a mutation in the RPE65 gene. It was the first FDA-approved gene therapy for a genetic disease.
The treatment involves injecting a good version of the mutated gene beneath the retina of the eye, restoring proper gene activity. Twenty-three such gene-specific trials are now in progress, according to Mansfield, although none involves IQCB1, the gene responsible for Sofia’s disease.
A lot of IQCB1 research is underway, Mansfield said, including a therapy being tested on a dog.
“If successful, we could anticipate there will be trials for people,” he said.
If Sofia does go totally blind before a gene therapy for her disease is developed, the blindness could only be reversed if cells were still alive in her eyes. Otherwise, other therapies might be more appropriate, Mansfield said.
Sofia Sees Hope initially focused on raising money for research, and soon started hearing from biotech firms and pharmaceuticals expressing a need to connect with patients. Educating patients and their families also became a priority.
“Funding early stage research is critical, but it’s not enough,” Manfre said. “An educated, empowered and identified patient community attracts researchers and can accelerate research through patient registries, helping to build a natural history of the disease and informing policy. And, of course, an educated community just plain makes better health care decisions for themselves and their families.”
Mansfield touted My Retina Tracker, at bit.ly/MyRetina, the patient registry that Foundation Fighting Blindness funds with the help of Sofia Sees Hope and other sponsors. The registry enables people with IRDs to share information about their disease and how it affects their lives. Providers can add their clinical observations to patients’ profiles and order free genetic testing and counseling.
The registry can help researchers locate candidates willing to participate in clinical studies and trials. For example, Mansfield said, it could be searched to find people with the IQCB1 gene mutation in the event a trial is launched.
Manfre attributes the success of Sofia Sees Hope to southeastern Connecticut’s embrace of it. The organization’s top fundraiser, Dinner in the Dark, takes place every October at the Mystic Marriott in Groton. In each of the last three years, it’s raised nearly $200,000.
As many as 350 people attend the event, donning blindfolds before being served gourmet food and wine. It’s meant to give the diners and the wait staff a taste of what it’s like to be blind and to serve the blind.
“We’ve been told it’s a lot of fun — and very unsettling,” Manfre said.
In 2018, Sofia Sees Hope hosted its first LCA Family Conference at the Mystic Marriott and followed up with a second event last July in Philadelphia, bringing together physicians, researchers and patient advocates.
Dance won out
In addition to her parents, Sofia, a Ledyard High School junior, lives with her two brothers, Dante, 19, a freshman at Hofstra, and 9-year-old Luca, a fourth-grader at Gallup Hill School.
Sofia has led as normal a life as possible, said Manfre, who described a precocious teenager fond of forgoing a cane or the help of a sighted guide.
Sofia started dancing at age 3 and later took up rowing, following her older brother’s lead. Her rowing coach, Bob Berry, who’s now working with vision-impaired rowers at Nathan Benderson Park, a renowned rowing facility in Sarasota, Fla., said Sofia displayed exceptional balance and coordination.
“Maybe because she can’t see, she understands it better than most people,” he said. “She has a rhythm, a feel for the boat."
Sofia’s interest in rowing a single scull — a boat the rower propels by pulling an oar in each hand — inspired Berry to develop the Remote Coxswain, a remote-control rudder that can keep a scull on course. With Sofia rowing, Berry can control the rudder from a nearby powerboat, making corrections as needed.
Last fall, given the demands of school, Manfre urged Sofia to choose between dance — Manfre’s own passion during college — and rowing. Dance won out.
Sofia studies ballet, pointe and jazz at The Dance Extension in New London. She said she enjoys the art, the expressiveness of it, but relies more than she should on the sight she has left, which is less than it used to be. Brightness can be a problem.
“In dim light, I can see pretty well — the gist of things,” she said. “I can see a face, but not where the eyes are or if a person’s smiling.”
Sofia’s only request, her jazz teacher, Marcia Miller, said, is that the teachers wear black so she can make them out better.
“She’s a sweetheart,” Miller said. “I give her such credit for doing something that we take for granted. She does it by using her other senses. ... The mirror is the dancer’s friend — and enemy. You see yourself in the mirror to critique yourself, or maybe you missed last week and the others know things you don’t know, so you want to copy them. She can’t do that so well. She's learned how important it is to listen."
Sofia hopes to study criminology at a four-year college and wants to keep dancing.
“But I don’t know how well I’ll be,” she said.
That's the hard part.
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