Stephanie’s father is in the military, so growing up, her family moved often. In the fourth grade, while living in Turkey, Stephanie remembers having trouble seeing the front board at school and asking her peers for help. Her teacher also noticed and let Stephanie’s parents know. Her parents took her to an eye doctor, but they couldn’t correct her vision with glasses, so she was recommended to a specialist in Germany, which then led her back to the U.S. to the National Eye Institute, where Stephanie was finally diagnosed with Stargardt disease.
No one else in Stephanie’s family has Stargardt disease or any visual impairments, so this news was jarring, and her parents had difficulty handling the emotional side of her diagnosis.
“My parents treated me as if nothing happened,” Stephanie recalls. “So I had this huge diagnosis, and then we didn’t talk about it at all, which was just very confusing as a child. In middle school, when my peers would ask about my magnifiers, I would just say I have Stargardt disease and never went beyond that. But in high school, as my vision loss progressed more rapidly and I became legally blind, it was more difficult to hide my blindness.”
Stephanie felt grateful for the resources she was given when she was first diagnosed, and in high school, she had a vision specialist, Miss Martin, who changed her life.
“My vision specialist had experience with vision loss since her mom was blind, and she was the first person to act like it was “normal” and to not act so negatively toward blindness,” Stephanie recalls. “I was so used to my blindness making people uncomfortable and being a taboo topic that no one wanted to talk about. She called assistive technology ‘blind person toys,’ which made it fun for me for the first time.”
After high school, Stephanie went on to pursue a Bachelor of Science in sustainable biomaterials. However, after having so much support in her schooling prior, she suddenly found it extremely difficult to get her professors to accommodate her disability. After countless efforts, Stephanie compiled all the emails to professors who were denying her requests for accommodations and sent them to the Civil Rights and Equity Department at her university, and she got a call back immediately.
“Because I advocated for myself, it was completely changed overnight,” says Stephanie. “But it’s upsetting you have to take it to a legal place to get people to abide by the law for someone with a disability.”
Similarly, after graduating college, Stephanie entered the corporate world for a year, where she also experienced the lack of accommodations she needed, so she left the workforce. Although these were very negative experiences for Stephanie, they did help her start to become more comfortable speaking up for herself and talking about her disability.
In pursuit of helping others with disabilities like herself, Stephanie decided to start her first social media pages in December 2019. She admits that at the time, she had no idea what she was doing, posting any content that she wanted at first. Stephanie began to spend a lot of time studying other creators on social media and algorithms. One day, she posted a video showing how she uses her iPhone as a blind person, and it went viral, so she continued posting more content on blindness education and assistive technology. Stephanie’s social media presence continued to expand, and in June of 2022, she secured her first brand deal. Now, her social media pages have grown exponentially, with 92K+ followers on Instagram, 48K+ followers on TikTok, and 29K+ subscribers on YouTube.
It’s been a long journey for Stephanie to feel like she’s finally accepted her diagnosis with Stargardt disease. She still feels hesitant to talk about her diagnosis with new people in person since she’s had so many difficult encounters over the years, but it’s easier for her to talk about it online.
“Growing up, I had never met anyone with a visual impairment, and it felt very isolating,” says Stephanie. “But once I got on social media, that changed quickly. There are so many people I’ve interacted with and become friends who have Stargardt like me. I’ve been in other support groups, but I always suggest BlindTok because it’s videos and talking, so it’s super accessible.”
Now that Stephanie is able to create social media content full-time, she’s moved to Los Angeles, California, to pursue acting and singing, a dream of hers for a long time. She’s also planning to expand her business and grow her brand as “Better Blind.”
“So many people who are newly diagnosed with a blinding disease reach out to me about what to do next,” says Stephanie. “So I want to help those people access resources available since they can be difficult to find and navigate when first diagnosed. I want to use this platform to provide free resources but also support other disabled creators and artists.”
Even with her new business and ventures, Stephanie wants to continue using her voice on social media to help raise awareness about disabilities like Stargardt disease and to make a difference in those who may be struggling to accept their blindness.
“There’s such a lack of education and awareness in our society about blindness,” says Stephanie. “I just want to use my platform to try and help individuals with disabilities who may be in situations like I’ve been in.”
To continue following Stephanie on her journey with Stargardt, visit her website and follow her on social media.
]]>Toni holds a doctorate in Human Development, and she and her husband, a psychiatrist, had a clinical practice in Maryland for 30 years. While working with a patient one spring morning in 2001, Toni felt something like water rising in her eyes. It proved to be a vitreous detachment, but the eye doctor also found evidence of dry AMD during the examination.
Toni was crushed and terrified by this diagnosis. Her mother had already lost her vision because of the disease.
“When I was first diagnosed, I thought there was nothing I could do, that my life as I knew it was done,” Toni recalls. “But with time, I was able to calm down, at least long enough to focus on how to adjust to what the disease would most likely mean and, in time, as the condition progressed, on how to maximize my vision. It also became clear that I already knew how to cope with my distress because I did it for a living: focus on helping others work through what they perceived as too great to overcome. I concentrated my practice on patients suffering from chronic diseases, and most of what I know about dealing with my own disease, I learned from their patience and courage and persistence.”
[[image-left 2171]] Toni persevered with her life, doing what she could to keep herself healthy. She took AREDS vitamins, ate leafy greens every day, exercised, and each day that brought no significant vision loss gave her hope. In 2008, she and her husband sold their practice and followed her son, daughter-in-law, and two grandchildren to Boulder, Colorado, where they live now.
By 2013, Toni had developed the wet form of AMD in both eyes. About 10-15 percent of people with dry AMD will develop the wet form in one or both eyes. And later that year, she was diagnosed with geographic atrophy (GA), an advanced form of dry AMD, in both eyes as well. In 2015, she lost much of the vision in her left eye.
Throughout Toni’s vision loss progression over the years, she’s remained resilient, which she credits to learning from her mother. Toni’s mother was imprisoned in a concentration camp for five years during World War II and lost her parents and brothers to the Holocaust. Toni’s mother eventually went completely blind from her AMD, but she still kept on painting, cooking, and trying to be useful to herself and others until she passed.
But regardless of how her mother managed her AMD, Toni is determined to make the most of the vision she has remaining.
“No matter how hard I fall, I’m always going to get back up, either through my own strength or with somebody else’s help, usually both,” says Toni. “Falling doesn’t mean you can’t get up again, it just means you have to learn how to get up again.”
[[image-right 2172]]To continue thriving independently, Toni uses assistive technology on her phone and laptop and has learned a lot about low vision resources from the Ensight Skills Center in Fort Collins, Colorado. They sent a low vision specialist to Toni’s house to assess how she lives her daily life to provide her with the tools she needs to live independently.
“Not enough people with AMD seek out assistive resources like this,” says Toni. “So I want to help others with AMD work with the vision they have and learn about the available tools that help maximize it.”
All the ups and downs of living with AMD have taught Toni humility. AMD has also taught her not to take what she has for granted. She credits her positive attitude on life to learning to breathe.
“Once you’re calm, you can think, and once you can think, the world opens in a way that it doesn’t if you’re operating emotionally, and AMD makes you react emotionally, and almost always negatively,” says Toni. “Breathing helps you calm down, control the emotional reaction, and often replace it with a response that will open the world once more.”
This Beacon Story is brought to you in partnership with Astellas Pharma.
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International Day of Women and Girls in Science is celebrated globally to recognize the critical role women play in science, technology, engineering, and mathematics. To honor this vital day, the Foundation is sharing the story of Esther E. Biswas-Fiss, PhD, MB(ASCP)CM Professor and Chair, Department of Medical and Molecular Sciences; Director, Graduate Programs in Medical Sciences; Director, Programs in Applied Molecular Biology and Biotechnology, at the University of Delaware, College of Health Sciences.
Dr. Biswas-Fiss is not only a first-generation college graduate but also the first in her family to finish high school. When she first started her undergraduate studies at the University of Washington, she did not have a single female professor. The first time Dr. Biswas-Fiss finally encountered a woman in science was when she started her PhD program.
[[image-right 2164]] “Throughout my graduate and postdoctoral studies, I have met a lot of very powerful, strong, excellent women scientists that have made wonderful discoveries,” notes Dr. Biswas-Fiss. “There’s a wonderful opportunity for women in the field of vision research.”
Dr. Biswas-Fiss started her work as a chemist about 25 years ago and gravitated toward biomedical research. However, after attending an Association for Research in Vision and Ophthalmology (ARVO) conference, she became interested in using her skills as a biochemist to contribute to vision research.
“The vision research field is unique in that we have a great understanding and communication between scientists and clinicians, and we know a lot about genetics and biochemistry,” says Dr. Biswas-Fiss. “We’re really poised in the area of vision to implement those translational therapies like gene augmentation therapy, CRISPR, stem cell therapy, and biologics. The eye is really unique as an atomical organ to be receptive to those kinds of therapies that are maybe more challenging for diseases like cancer, diabetes, or cardiovascular disease.”
The Foundation Fighting Blindness awarded Dr. Biswas-Fiss an Individual Investigator Research Award in June 2023, which is designed to concentrate research in areas with the greatest potential to move toward treatments and cures for inherited orphan retinal degenerative diseases and dry age-related macular degeneration.
“We are so grateful to the Foundation Fighting Blindness for their generosity and for supporting our research,” says Dr. Biswas-Fiss. “It is seen as a very prestigious award, so it isn’t just about the money, which of course is important and allows us to continue our work, but it’s also that this eminent group of scientists has given me the ‘Good Housekeeping’ seal of approval.”
Her work being funded by the Foundation is titled, “Deciphering the Impact of ABCA4 Genetic Variants of Unknown Significance in Inherited Retinal Disease Prognosis.” Dr. Biswas-Fiss is using computational modeling and experiments to determine whether ABCA4 variants of unknown significance (VUSs) lead to ABCA4-related disease. Solving these VUSs cases are critical to meet inclusion criteria in a clinical trial for ABCA4 therapies.
“Our task in the laboratory is to use computational techniques, so using computer modeling and in silico techniques, in combination with biochemical approaches, to try to make sense of these variants of unknown significance,” says Dr. Biswas-Fiss. “We create proteins using recombinant DNA technology that harbors the same mutations that we see in the patients with the same genetic variants, and then we study how those behave biochemically relative to the normal or wild type protein.”
Dr. Biswas-Fiss explains that today the ABCA4 gene has over 3,000 genetic variants that have been identified in individuals when 25 years ago, there were only 200 variants identified. Of those, 1,500 are associated with the building blocks that make up the ABCA4 protein, meaning they could potentially affect the function of the protein and lead to disease.
“About 60% of those 1,500 are variants of unknown significance, and those patients are ineligible to be enrolled in clinical trials because they really have to know what the significance is of those variants,” explains Dr. Biswas-Fiss. “And that’s where our laboratory comes in and is hoping to make a difference.”
Dr. Biswas-Fiss also notes that the importance of genetic testing has also really come to light in recent years and that her team is helping to fill in that roadmap from learning about genetic information to then getting treatment.
“10 to 15 years ago, it was difficult for patients to access genetic testing because many times their insurance would not cover it because it wasn’t necessarily actionable,” Dr. Biswas-Fiss recalls. “Thanks in part to the Foundation Fighting Blindness, funds have become available so patients whose insurance won’t pay for the genetic testing can have it done now, which has really changed and is so important.”
Dr. Biswas-Fiss is now guiding the next generation of scientists to make an impact in the field. One of her students has been studying with her for the last nine years. She’s even leading the charge globally, as one of her students is from Turkey.
“It’s a very, very exciting time to be in science, and now I’m able to tell my students that in your lifetime, you’ll be able to see the fruit of your labor,” says Dr. Biswas-Fiss. “When I started out 25 years ago, I couldn’t imagine that we would be in the position we are in today. As a researcher, what’s difficult is that there isn’t instant gratification; sometimes, the road is long and hard. But we’ve really gotten to a point in our research now where we can make a difference. It’s all these little pieces of science put together, not just from our lab but from other labs too, that is going to lead to those long-term gains that we see for patients. The future holds promise for individuals affected with inherited retinal diseases.”
This Beacon Story is sponsored by Johnson & Johnson.
“My optometrist sent me to a retinal doctor who found that I had a spot on each of my retinas,” she says. “But he didn’t think it was anything serious and told me not to worry about it.”
[[image-right 2160]] Janine’s vision loss was so gradual that she just lived with it. That is, until 2020, when one day, she realized she’d lost most of the central vision in her left eye. A new doctor opted to do genetic testing, which pointed to an inherited retinal disease (IRD) caused by a mutation of the PRPH2 gene.
She and her husband, Brandon, set out to learn everything they could about PRPH2-related diseases. But now, they no longer had to wonder because simple online searches provided them with plenty of information. And a lot of it was connected by a common thread.
“One of the things we noticed as we were doing our research was that the Foundation Fighting Blindness kept coming up—as a funder of research, as a sponsor of research,” Janine said. “We were like, ‘Wow. The Foundation seems to be the place to go.’”
But the Foundation did more than provide information. For the Nixons, who had recently formed a family foundation for various philanthropic efforts, the Foundation Fighting Blindness became an essential partner.
“Each one of the paths we would go down, we would ultimately get to where the Foundation was involved in it somewhere,” Brandon said. “That’s when we reached out to them to help us figure out the best path for our efforts.”
With guidance from and collaboration with the Foundation, the ‘PRPH2 and Associated Retinal Degenerations Program’ was born. The program kicked off with the in-person ‘PRPH2 and Associated Retinal Diseases Workshop,’ hosted in partnership with the Foundation and Shiley Eye Institute at the University of California, San Diego, held in late March of 2023.
“There have been lots of conferences centered around diseases or phenotypes,” Brandon said. “This was the first conference focused just on the gene-PRPH2. And the Foundation was just fantastic. Their resources were absolutely critical in designing and populating the conference with world-class people. It was incredible. It was emotional. It was hopeful. And it was interesting.”
Among IRD patients, mutations of PRPH2 are relatively common, but they can cause more than one disease. With any disease, particularly ones that are misunderstood, it’s easy to feel like you’re the only one who has it. Both Brandon and Janine said it was exciting to be with people with similar conditions and to meet researchers and doctors working on treatments and cures for those conditions.
“There were breakouts where attendees got to mingle with each other and get to know each other,” Janine said. “They might have been familiar with someone’s work, but now they were meeting them in person. And patients were there, and they got to meet these people who are working on this gene and on these diseases. And those patients got to meet other people going through the same thing they are going through. It was really meaningful for the patients.”
The workshop is just the beginning of the program the Nixons have planned with the Foundation. In partnership, the two entities have issued requests for proposals from labs around the world to fill some of the gaps in understanding PRPH2 and have received almost 30 responses.
“The idea is that we would pick two labs each year for the next three years and give them multi-year grants,” Brandon says. “But there’s so much good stuff coming to us that we don’t exactly know the pace of the funding we’re going to do.”
In addition to the ongoing partnership, the Nixons have made significant gifts to the Foundation and do not hesitate to encourage other people to do the same.
“We feel that the Foundation has just got the pulse of what’s going on in the world of inherited retinal diseases,” Janine said. “And they’re a really great partner for figuring out how to most effectively direct your funds with confidence.”
]]>[[image-right 2132]] Serving as a special education teacher and coach for an extended duration, Josh Schneider, originally from New Jersey, contributed significantly to his community. Although he experienced perfect vision, Josh noticed a change in his vision at the age of 30. He began seeing floaters before experiencing vision distortion one afternoon in April 2012.
Shortly after, Josh, who had never visited an eye doctor before, sought the expertise of a local optometrist. After a series of examinations, he was referred to Wills Eye Hospital in Philadelphia to rule out multiple sclerosis due to the irregularities observed in his optic nerves.
“Later in the year around, December, my vision was getting really blurry,” Josh recalls. “I was coaching basketball at this time, but I was missing free throw after free throw to the point where even the kids were making comments. I knew something was off, so I went back to Wills Eye for the second time, and I began a steroid treatment for the inflammation in my optic nerve.”
Following a series of episodes marked by blurriness and restricted visual field, Josh started to experience a gradual loss of vision in his left eye, ultimately reaching a total loss by the end of the following year.
“I credit my doctor for saving my vision,” he says. “Since then, I’ve been on an infusion medication similar to chemotherapy, so over the last seven years, my vision has been stable. I’ve never recovered the field, but I feel like in my perception, I’ve recovered clarity in what I see. Because I lost my vision rapidly while teaching, it came to the point where I had to make the decision to retire based on student safety and the school climate we live in now.”
[[image-left 2130]] Upon retiring from teaching in April 2018, Josh found the transition to retirement particularly challenging. In an effort to find purpose and make a positive impact, he took on a volunteer role with the National Court Appointed Special Advocate, dedicating his time to advocating for children in foster care.
“We were basically the voice of the child in the court system, and I found that really rewarding,” he says.
After coming across an advertisement for New York Metro Blind Hockey, Josh decided to join, immersing himself in ice hockey and actively engaging with the blind hockey community through social media and local events. It was during this time that he connected with Drew, forming a friendship based on shared ideals and a common understanding of what was needed to propel the growth of the sport.
“We started the Dented Puck podcast during COVID to raise awareness, and that turned into us starting our own tournaments,” he says. “After we held our first tournament in Chicago in July 2021, my immediate reaction was that we had to start a charity. So, over the last three years, what we started for awareness morphed into our Dented Puck and the HockEYE Guy foundations, and that has been growing the support for the sport in the country.”
While the Dented Puck Foundation is dedicated to raising awareness and offering support to the blind hockey community, the HockEYE Guy Foundation focuses more on creating travel solutions and resources for blind players.
[[image-right 2134]] “I think the thing with being in charge of awareness and growth for something in its infancy is that it’s amorphous,” says Josh. “You’re moving with it and letting things grow to see where you can fill in the gaps to help make an impact and grow your footprint. What we found with raising awareness at these events and how we were received at previous events really showed the scope of what we could do if we reached into the hockey community.”
In collaboration with the NHL, the Foundations have planned a series of Hockey for the Blind events in North Jersey, scheduled from February 15-18, 2024. This includes an awareness game during the intermission of the Devils versus LA Kings game on February 15th, in addition to a charity game hosted at the American Dream Mall on Saturday, February 17th.
Josh and the Dented Puck Foundation are in the principal filming of a documentary to increase awareness about blind hockey players. Additionally, he’s working towards the goal of solidifying blind hockey’s status as a Paralympic sport by 2030.
For more information about the Hockey for the Blind event, contact Josh at Josh@TheDentedPuck.com.
Book your tickets by visiting the Dented Puck website.
]]>[[image-right 2123]] Hailing from central Pennsylvania, Dan Berlin has emerged as a beacon of inspiration in the world of endurance sports and entrepreneurship. During his formative years, Dan began encountering issues with his vision before the age of seven. Now a devoted husband and father of two, he strives to make a positive impact globally, especially in the lives of blind youth.
In the year preceding his 7th birthday, Dan’s teachers observed concerning signs related to his vision. Despite receiving glasses, he still couldn’t see the board and struggled with extracurricular activities. His parents took him to a nearby ophthalmologist, who immediately recognized something was wrong after inspecting his retinas. He was referred to see a retinal specialist and was initially diagnosed with Stargardt disease.
“When I was a little kid, I was playing Little League Baseball, and I couldn’t see the ball at all,” Dan recalls. “Someone hit the ball towards me while I was playing in the outfield one day, and I couldn’t see it. It hit me in the chest versus my glove, and that’s when I realized that I couldn’t really see things in the same way that everyone else was seeing them.”
Despite the hurdles he encountered during his youth, Dan continued to pursue his passion for playing sports throughout school.
[[image-right 2124]] “I had a sense of being different and that I would need to figure out how to do things differently in the world,” says Dan. “But I just buried it down and figured out how to adapt myself. So, I played a fair amount of sports, including football and things like that in high school, and I slowly shifted the positions I played to ones that were less visual acuity demanding.”
As Dan navigated through his 20s and established himself in New York City, he faced progressive symptoms such as sensitivity to light, color loss, difficulty seeing in darkness, and aggressive vision loss.
“I think it was a doctor at Columbia who told me that I don’t have Stargardt, but I instead had something very similar to it,” he recalls. “Since then, I’ve had genetic testing done about a decade ago, which confirmed it was not Stargardt. And then I was later re-diagnosed with cone-rod dystrophy by another retinal specialist.”
After moving to Colorado, Dan encountered difficulties staying physically active and turned to running to become healthier. Little did he know that this decision would mark the beginning of his journey as an endurance athlete.
“I figured out how to take my cane to map out a two-to-three-mile loop around my neighborhood, and then I just started running,” says Dan. “From there, I met some other friends to run, then I signed up for a half marathon race, and that’s where it started.”
[[image-right 2122]] A couple of days before the race, Dan reached out to the director to inform him about his blindness. After reaching out to runners in the community, he connected Dan with someone who would guide him throughout the race.
“That was the first time I heard about or thought about having a guide, but once I discovered that, it was great,” Dan recalls. “I went on from that to marathons and then to ultra marathons.”
After completing an ultra-marathon across the Grand Canyon, Dan and his companions decided to leverage the media coverage to make a positive impact in the blind community. As a result, their nonprofit organization Team See Possibilities (TSP) was born to help normalize blindness in society and support the youth. While the Foundation Fighting Blindness is working on the cure, TSP is committed to improving life with blindness.
“We started a scholarship program for high achieving college students who are blind all around the world, and then about every month or so, I also bring in highly successful mentors who are blind to talk about their career and their journey,” he says. “We really look at forming a network of young people supporting each other because they are the role models of the future.”
While achieving success as an endurance athlete, from climbing Mount Kilimanjaro to completing a 100-kilometer run along the Great Wall of China, and most recently participating in the 24-Hour World Time Trial Championships and the Head of the Charles Regatta boat race with his oldest son, Dan considers his most significant achievement to be raising his children as a blind father.
[[image-right 2118]] “I’ve been able to see my children graduate into the world and actively be involved in their lives as we go about our different things,” he says. “We do a lot of work in Africa these days, including investment work and working with startups and founders over there. So being able to do these things together as a family is probably my greatest achievement.”
In the future, Dan looks forward to expanding the depth of his nonprofit, bringing back alumni as future mentors. He also plans to release a documentary, Surpassing Sight, highlighting his 2018 Race Across America with four blind cyclists and four sighted pilots.
To explore further details about the programs available at Team See Possibilities, get in touch with Dan at Dan@TeamSeePossibilities.com
]]>Dr. Kimberling received his PhD in Medical Genetics from Indiana University School of Medicine. Dr. Kimberling worked at the Boys Town National Research Hospital in Omaha, Nebraska, for over 40 years, where he served as Director of the Center for the Study and Treatment of Usher Syndrome and Director of the Gene Markers Laboratory. The creation of the William Kimberling Usher Research Laboratory was dedicated in 2015 to honor his hard work and commitment to families affected by Usher syndrome.
“Dr. Kimberling was our go-to Usher syndrome researcher and advocate for patients and families,” said Amy Laster, senior vice president, science strategy and awards, Foundation Fighting Blindness. “From Capitol Hill to research seminars, to VISIONS Conferences, he passionately educated the world about Usher syndrome and the need for research to overcome it. His commitment to the Usher syndrome community was heroic.”
Dr. Kimberling published more than 250 scholarly papers on a variety of topics, from population cytogenetics to kidney disease. He focused his studies on the genetics of sensory loss, specifically on combined vision and hearing loss, and his laboratory was responsible for the identification and characterization of several genes that cause Usher syndrome.
He received more than $1.5 million in awards from the Foundation Fighting Blindness and an additional $20,000 awarded to the Boys Town National Research Hospital during his tenure.
The Foundation is extremely grateful for Dr. Kimberling’s distinguished career and dedication to the Usher syndrome community.
]]>John-Ross Rizzo, a native of northern New Jersey, developed a lifelong passion for medicine at a young age. His journey began when he was diagnosed with choroideremia during his formative years, leading him to seek advanced medical treatment in the neighboring city of New York. Fueled by his fascination with the city’s diversity and determination to overcome his condition, he forged a successful career in the field of healthcare and rehabilitation.
[[image-right 2108]] Before reaching the age of 10, John-Ross’s mother noticed some troubling changes in her son’s behavior. The typically outgoing child would become withdrawn in the evening while playing outdoors and encountered difficulties with orientation in movie theaters when the lights dimmed, often relying on his mother for guidance. This prompted his mother to embark on a years-long series of visits to a local optometrist in search of answers.
After failing two parametric evaluations to formally assess his peripheral field of vision, John-Ross was referred to a specialist.
“I’ll never forget it. After the test, he said to come back tomorrow because you fell asleep. And I said, no, I didn’t fall asleep,” John-Ross recalls. “I came back the next day, and I did just as poorly. That’s when he said there’s something going on here, and we need to get you to a specialist. And that’s sort of what started my journey. I bounced around to a series of doctors, and they initially thought I had retinitis pigmentosa. Then I saw Dr. Ronald Carr at NYU, and he took one look at my eyes and said you have choroideremia.”
The condition fueled his passion for a career in medicine, as he found it exceptionally challenging to come to terms with his diagnosis and the incurable nature of the disease.
“I buried that fire in my belly and said I’m going to use this to propel myself forward,” says John-Ross. “As I got older and learned more about my condition, I realized that medicine really needed to be my path, and I figured out what steps would be important. Given the functional limitations I had from my retinal disease, I decided to stay closer to home, but I also wanted to avail myself of all the richness and diversity that New York City had to offer.”
His educational journey In New York City began with the submission of university applications, ultimately securing a scholarship at NYU for his undergraduate studies in neural science. He later pursued his medical doctorate at New York Medical College, only to later return to NYU for his postgraduate studies, where he initiated a career that has spanned 15 years and continues to this day.
[[image-left 2104]] While John-Ross ultimately achieved success, his college journey was far from easy. He reached a point where he had to give up his driver’s license, relying on hitching rides and resourcefulness to manage his transportation needs. Today, as a board member of the New York City Metropolitan Transportation Authority (MTA), he has leveraged his experience to create ‘Commute Booster,’ an assistive technology, more specifically a mobile app, designed to improve the lives of individuals with low vision and blindness.
“The MTA infrastructure is so robust, so I knew we had to come up with better ways to leverage such an incredible asset,” he says. “I think commuter rail and subway is probably the most efficient form of travel, and we must make it as accessible as possible for all, not some. So, we started to say, well, what exists in that environment that I know is fixed and stable, and what kind of technologies can we use to better access such environmental information.”
Leveraging General Transit Feed Specification (GTFS) with Optical Character Recognition, the app is designed to assist users in their daily commutes. It achieves this by employing filters to help users navigate their journeys and deliver positive or negative feedback in real-time, depending on whether they are headed in the right or wrong direction, ensuring they are on track to the right platform or exit.
“This is simply taking advantage of the environment that already exists, so there’s no fundamental change you need to make,” says John-Ross. “It simply involves using a cell phone and some basic spatial understanding of the subway system (GTFS). As we start to think more earnestly about how we want to support accessibility, it is critical to think about accessibility ‘at-scale’ and what new infrastructure or lack thereof is required to support accessibility across an entire organization. All said, we are working on leaner or more economical ways to better support vulnerable New Yorkers across our whole system, not some, not part and certainly not only here – it must be everywhere.”
As the app progresses in its development and moves towards its first clinical trial, John-Ross highlighted significant partnerships with NYU School of Engineering, MTA, and local non-profit organizations such as Lighthouse Guild and Visions, all of which play a key role in driving the app’s progress.
[[image-right 2098]] “Next, we will design a clinical trial to ensure that the technology tests well and garner additional feedback to make sure that we are spot on before we launch,” he says. “We also have a number of other services that we’ve created over the years and a number of ongoing projects that are nearing completion, blossoming out of their planning stages. Some of them are in the process of technical validations with human-subjects recruitment, which is a critical step to make sure that we’re involving the end users in projects that are designed with scientific rigor. We must launch technology in an optimal state for the commercial marketplace.”
Looking ahead, he plans to maintain his role as an advocate in his community and explore new avenues, leveraging ongoing technological advancements to improve the lives of others. His goal is to create assistive technology that addresses the needs of various populations, particularly the youth.
“My hope for the future is to continue improving the app and integrating it with other technologies so we can better address the needs of the blind and low vision population, as well as other disability populations,” says John-Ross. “By leveraging bleeding-edge technology, we aim to enhance navigation, travel, cooking, and shopping, helping to improve disparities with regards to food insecurity, healthcare inaccessibility, and barriers in the education and employment space. I believe that achieving this involves a symbiotic relationship between technology and equity.”
]]>[[image-right 2088]] Tricia was diagnosed with retinitis pigmentosa (RP) in the early 2000s after failing her visual field test several times at a routine eye doctor’s appointment. She went to a retina specialist who was hesitant to tell her the diagnosis because he didn’t want to say that there was no treatment or cure. After being diagnosed, Tricia’s family members were all genetically tested, and discovered that her two sisters and niece also have RP. They’ve all found it difficult to accept their RP diagnosis, but the shared experiences have been helpful in their journey of coping.
Tricia’s RP has progressed significantly in recent years, with her peripheral vision declining rapidly. In April of 2011, when Tricia and her family were visiting Knotts Berry Farm, she suddenly experienced the children all disappearing from her line of sight. She quickly discovered an organization nearby, the San Diego Center for the Blind, where they measured her for a white cane and gave her brief orientation and mobility training. After that, she would go to YouTube for how-to videos from orientation and mobility instructors, which she found to be an incredibly useful resource.
“They launched me on such an incredible journey with my white canes,” says Tricia. “I didn’t realize how much I was faking it, but once I had the cane, it was like the keys to the kingdom. It just unlocked everything and resolved so many of my issues with mobility.”
In 2018, Tricia started using a white cane full-time after her visual field went from about 20 degrees to 11 degrees in two years. Due to this, Tricia had to leave her corporate job in fashion, where she traveled to all seven continents and 48 countries, projecting fashion trends for years. After working in New York City for over 20 years, Tricia and her family moved to Houston, Texas, for what she thought was a temporary job. But after realizing she couldn’t get another job in her field due to her vision loss, she started filling her time by helping a friend who owned a small factory in the area. When designers would visit the factory, they’d typically meet in a conference room, so her white cane was usually under the table. But one day, one of their clients asked her to come to see their factory, and she knew it wasn’t safe for her to visit without her white cane. But her friend didn’t want the client to know she was blind, so she didn’t take her white cane and held his arm instead. But after the visit, Tricia felt so angry with this idea that her white cane was a problem.
[[image-left 2089]] “The fact is that I’m blind, and I was not okay with that rejection of my white cane,” recalls Tricia. “I decided then that I’m not ashamed of my blindness, and I’m not going to hide my white cane in any situation. There’s nothing to be ashamed of when using a white cane, and shame is no way to feel just because you’re visually impaired.”
After that experience, Tricia stopped working with her friend, and on the first day of 2021, Tricia decided she was going to start her own company.
“I have the brain, the experience, and I know how to build a clothing line, so why not start my own company,” said Tricia. “And I knew it was going to be called Blind Girl Designs because that’s what I am. And I’m proud of who I am.”
Tricia’s family have all been huge supporters of her vision loss journey and dreams, which is why Blind Girl Designs has evolved into a family business. Tricia’s niece, Molly Casey, created the website, while she and Tricia’s son, Robert, were the first models of the apparel. Robert and Tricia’s husband, Tom, helped with the designs, deliveries, and the conventions they showcase at almost every weekend.
By the end of April 2021, Blind Girl Designs had the full online storefront set up, including extensive detailed descriptions of all the products. A few months later, another blind entrepreneur, Laura Legendary, who founded a jewelry company called Elegant Insights, found Blind Girl Designs through social media and contacted Tricia about being a part of her “Let’s Go Shopping” event. Since the event was leading up to the holidays, Tricia knew they had to create holiday apparel to sell. So, she laid out all her white canes on the ground and played with them until she came up with a snowflake design. That was their first design, which was wildly well received. Tricia credits that event to launching the core of the Blind Girl Designs business.
[[image-right 2090]] Now Blind Girl Designs has 25 different prints on t-shirts and hoodies, and 23 have white canes in the designs. The designs are also tactile, printed with 3D puff ink or vinyl ink, and the more you wash it, the more tactile it becomes.
Tricia has created her business exactly how she would want it as a visually impaired customer. So, shipping is free, and they send customers a bag with pre-paid postage for returns and exchanges.
“I built my business how I, personally, would want it to be,” says Tricia. “And I want to empower my customers to feel more independent. My business is all blind-friendly, making everything as simple as possible.”
And, as Tricia’s vision continues to deteriorate, she’s had to restructure her business in some ways, such as training her assistant designer, who is deaf, to be able to help more. But nothing will stop Tricia’s drive, and she plans to continue helping her customers and others in the community feel empowered.
“Blindness is just the beginning; it’s not the end,” says Tricia. “It’s just the beginning of a new part of our journey. We get to learn a whole new set of skills and a new way of thinking. My RP has allowed me to meet new people and see the world in a different way, and I see that all as really positive additions to my life. And it’s really healing for me to be around others in the blind community and share our spectrum of experiences.”
]]>[[image-right 2065]] Meet Rebecca Rosenberg, the founder of assistive technology startup ReBokeh Vision Technologies. From her diagnosis of oculocutaneous albinism (OCA1) at a young age, the engineering student turned CEO’s journey has been quite unique. Now, at the age of 25, she stands at the forefront of revolutionizing assistive technology for those with moderately low vision.
Several months after birth, Rebecca accompanied her mother to a routine dental appointment. While in the doctor’s office, the receptionist noticed some irregularities in her nystagmus due to her own family’s history of blindness. After a few weeks, she reached out to Rebecca’s parents, which led to a series of doctor visits and initial misdiagnosis. Rebecca was ultimately diagnosed with OCA1 and underwent strabismus surgery at the age of three.
“It basically resulted in decreased visual acuity,” says Rebecca. “The way I would describe it is if a regular sighted person sees in high definition, I see in standard definition. I’m missing pixels and a lot of them. I spent most of my life growing up not really sure if I was going to be able to get my driver’s license.”
After discovering her diagnosis as an adult, Rebecca began to connect with organizations such as the National Organization for Albinism and Hypopigmentation (NOAH), where she discovered a supportive community of individuals with similar experiences.
“I was in my 20s before I found out I had albinism because I never asked any questions,” she says. “It was only when I was starting ReBokeh that I asked, and my mom shared the diagnosis that I received from the doctor. And that was when I realized that there was a whole albinism community of people who were like me. I realized that there were organizations like NOAH that support people specifically with albinism, and that led me to my first NOAH conference that I went to last summer. I got to meet all of these fantastic people with the same lived experience as me in ways that I didn’t realize were a result of my albinism.”
[[image-left 2066]] Rebecca went on to pursue an undergraduate degree in biomedical engineering at Bucknell University in Pennsylvania. After graduating, she went to Johns Hopkins University to pursue a master’s degree at the Center of Bioengineering Innovation and Design.
During her time at Johns Hopkins University, she actively participated in projects focused on global health. For one year, she led a project on the development of a tool designed to automatically classify mosquitoes based on photographs before transitioning to entrepreneurship full-time.
“There are a lot of qualities that you need to have to be an entrepreneur and to create something where nothing existed before,” says Rebecca. “I think that the qualities that are embedded in a person who has lived with any type of disability include self-reliance, perseverance, risk-taking, and the understanding of how to deal with the loneliness of knowing that other people don’t know what you are dealing with. All those things make a good entrepreneur and people with disabilities are learning those things as children.”
Rebecca’s initial inspiration to start ReBokeh stemmed from her personal experience with albinism and the lack of assistive technology available for individuals between the vision spectrum.
“The initial motivation was that there was nothing available for me, and I wanted to make something that would work for me,” says Rebecca. “I managed to get a grant from my undergraduate university to take on that problem for a summer. By the end of the summer, I had less than a back of a napkin idea, but I felt that a smartphone app would make sense and be the right way to move forward.”
[[image-right 2068]] Once news began to spread after a few local interviews, Rebecca recognized the importance of her idea to the visually impaired community. She dedicated herself to the project throughout her three years as a student, collaborating with fellow students and experts, leading to the establishment of ReBokeh Vision Technologies. Her expanding team has become a vital part of the development process, and user feedback has served as an integral part of shaping the app into what it is today.
The ReBokeh smartphone app is a modern assistive technology for individuals with low vision. Unlike conventional assistive tools such as tactile and audio descriptions, the app grants users the unique ability to utilize their camera feeds to modify the appearance of the world around them.
“For a year, ReBokeh was in beta with about 100 users and a full advisory board of people who were providing us feedback on everything from bugs to different capabilities people wanted to see it have in the future,” Rebecca recalls.
Since then, the company has expanded to include users in 96 countries and has recently launched ReBokeh Plus, their first premium subscription tier. ReBokeh Plus allows users access to tailored features, including expanded inversion options, the ability to upload and adjust images, and customizable presets to further adjust their experience to fit their unique needs.
[[image-left 2071]] While the company has achieved significant success, what truly fulfills Rebecca is the relationships she has cultivated with fellow entrepreneurs and the profound impact the app has had on the lives of visually impaired individuals who have had positive experiences using the app.
“People and relationships are so important as you go through this journey, especially because you can begin to help other people too,” says Rebecca. “As I have had more experience as an entrepreneur, I’ve been able to help other entrepreneurs, and it’s a really fun and rewarding cycle once you get into the startup world.”
With significant plans for her company and high hopes for the future of assistive technology, Rebecca plans to expand further and leverage emerging technologies such as machine learning and artificial intelligence.
“I think we are really going to move to holding assistive technology companies to a higher standard in terms of the products that they are producing, especially at the price points that a lot of them tend to come in at,” says Rebecca. “And I also think that as additional technology becomes available and shakes up the tech landscape as a whole, I’m hoping that we start to see that embedded into assistive technologies.”
]]>[[image-right 2052]] Ava Ruggiero, a 16-year-old native of Philadelphia, faced life-changing news when she was diagnosed with a retinal disease last year, becoming the first in her family to have the condition. Ava shares her journey with her parents, Joseph and Stephanie, and two younger siblings, Stella and Joseph, who all have served as a key support system for the teen. Ava also shines on the field as a dedicated high school athlete, showcasing her passion and eight-year commitment to field hockey.
Last May, during a routine family eye checkup attended by Ava and her siblings, the doctor noticed something unusual in her images. She was later referred to a specialist at the University of Pennsylvania (UPenn), which led to a formal diagnosis of retinitis pigmentosa (RP).
“Ava had some symptoms as long as we can remember, but we had no clue it was anything,” says Joseph. “We always joked that Ava was clumsy because she was always tripping on things or running into something. But little did we know there was a reason for it.”
Following her diagnosis, the family of five encountered challenges in coming to terms with her newly identified condition, grappling with the uncertainty of her future.
“One of the hardest things I ever heard in my life was when we were in her appointment as she was being diagnosed, and she asked me, ‘Am I going to go blind?’” says Joseph. “The first month was tough for all of us. There were a lot of tears. We were worried about how she would respond to it and what it would mean for her life.”
[[image-left 2051]] In the face of the diagnosis, Ava’s follow-up appointments have consistently delivered positive news. Her vision has remained steady, and she continues to live her teenage life without many limitations.
“When I found out, I was upset and sad. I felt it would ruin my goals because I thought I would go blind really fast,” Ava says. “But I realized it doesn’t affect me that much, and it won’t stop me from accomplishing my goals.”
Ava is on track to start her junior year of high school, where she will continue to play field hockey.
“One of the hardest things for Ava was playing field hockey. It was recommended that she wear glasses with amber lenses, and she was self-conscious about that,” Stephanie says. “The coaches last year had Ava explain it to the team, and I think that really helped boost her confidence as far as not feeling discouraged to play alongside her teammates. They have all been very supportive of her.”
Ava and her family have found support not only within their own circle and her team but also through organizations such as the Foundation Fighting Blindness and various social media communities.
[[image-right 2055]] “You’re going to have some ups and downs but connecting with other people is important,” Joseph says. “We joined the Foundation, and we are grateful for being a part of that,” Stephanie adds. “We also let Ava join Facebook to be a part of the retinitis pigmentosa group and other communities, so that she can meet other kids her age and get involved.”
Since discovering the Foundation during Ava’s initial appointment at UPenn, the family has participated in local events such as the Philly Tough Mudder and became the top fundraising team at the Philadelphia VisionWalk.
“Now that RP has become a part of our world, our family wants to do what we can to help Ava and others in any way we can,” says Stephanie.
“This experience has brought our family closer together, and I’m happy to have people here to support me and donate to this cause,” Ava adds.
Looking ahead, Ava plans to pursue a college education in psychology and create a positive impact by helping others.
]]>[[image-right 2040]] Meet the remarkable songbird, Sarah Hardwig, who emerged from the sun-kissed shores of Naples, Florida. Sarah received a diagnosis of a retinal degenerative disease a few months after birth, but at the tender age of 4, music became her guiding light. The power of pop melodies and songwriting ignited her determination to push forward, becoming a beacon of light for all who lend an ear.
At just five months old, Sarah’s mother noticed a troubling change in her daughter’s gaze. Sarah’s eyes were no longer tracking her movements. Seeking medical advice, her parents took her to the Bascom Palmer Eye Institute in Miami, where she received a formal diagnosis of Leber congenital amaurosis.
As Sarah continued to grow, her condition proved to be a significant challenge, particularly during her time in school.
“I would break down crying in the first or second grade, because I couldn’t see what was happening on the whiteboard in math class even though I had accommodations,” recalls Sarah. “The main challenge was accepting the fact that I couldn’t see, and the other challenge was figuring out how to deal with it. However, I was fortunate to have staff that helped me.”
Undeterred by the initial challenges she faced during her adolescence, Sarah, now a 20-year-old living in Nashville, Tennessee, has not allowed her blindness to discourage her from accomplishing her goals. She began mobility training a few years ago to learn how to cross streets and navigate in an area.
“The main thing people think when they encounter a blind person is that they cannot do much because they are blind. We may not be able to do as much as a person with vision can do, but we can certainly do a lot of things. Proving to people that I can do things despite the fact that I am blind is amazing,” says Sarah.
[[image-left 2037]] Sarah’s love for music began at an early age, nurtured by her musically inclined parents, instilling in her a deep passion for the art. Since then, she has held an unwavering determination to pursue music.
“When I was 3 or 4 years old, I would stand or sit in front of the TV just listening, and that made me want to pursue music. I just loved singing and singing at my kindergarten graduation at the age of 5 made me want to become a singer even more,” says Sarah.
However, the turning point in the young songstress’s journey came when she attended her first CMA Fest in 2011, prompting her to start taking her singing career more seriously. Since then, Sarah has performed with renowned artists such as Charles Kelley, Steven Tyler, Lauren Alaina and LoCash. Notably, she has amassed an impressive record of 250 national anthem performances, including the Miami Dolphins at the age of 9.
She also performed each year at Scramble Fore Sarah, a golf charity event hosted by her family. The annual event, which ended in 2020, raised approximately $125,000 for the Lighthouse of Collier, Inc., and the Foundation Fighting Blindness over the course of eight years.
Now, enrolled as a songwriting major at Belmont University, she looks forward to beginning her junior year this upcoming fall.
“Belmont has been very good to me. I have had the best professors when it comes to songwriting,” she says. “The greatest professors I’ve had so far are Drew Ramsey, James Elliot, Jodi Marr and Mrs. Victoria Banks, who has written songs for a lot of country singers such as Mickey Guyton.”
With her vision restricted to just light perception due to her condition, she has taken a unique approach in the way she crafts her music.
[[image-right 2041]] “A lot of songwriting tends to be detailed and image based, but I can definitely say that my songwriting is less image based. It’s primarily focused on thoughts, because incorporating feelings and thoughts helps other people relate to the song more,” she says.
When envisioning the future of her music career, Sarah is determined to ensure that the label of blindness doesn’t define her or her artistry.
“A lot of people will try to put you in a box, and boxes are very limiting. I am going to be the person that breaks out of the box,” she says. “I want to be seen as a songwriter who just so happens to be blind, but I don’t want that to define me. This is why I love artists who truly experiment with expressing themselves sonically and visually, because they are not letting anything define them,” she says.
With boundless potential ahead, Sarah plans to release three new songs next year, a prelude to her ultimate goal of creating an EP and releasing a full-length album.
]]>[[image-right 1723]] Chloé Duplessis is a legally blind digital collage artist living in Colorado with her husband of 12 years and their five-year-old daughter. Her journey to becoming a full-time artist and owner of Duplessis Art wasn’t necessarily a straightforward path, but she’s grateful for what brought her to where she is now.
Growing up in Louisiana, Chloé was very aware and sensitive to blindness and vision loss, as her mother has retinitis pigmentosa (RP). She visited the eye doctor yearly for check-ups but never had any issues with her eyesight. When she was in her 20s, Chloé recalled noticing some blurry vision at the end of the day, but she attributed it to her eyes being tired from the long hours she routinely put in as an executive assistant in the mayor’s office in her hometown of Shreveport. So, although she was familiar with RP, she had never heard of Stargardt disease until she was diagnosed about four years ago.
At 39 years old, when Chloé went in for her yearly eye exam, her doctor noticed some flecks on her retina scan, so he sent her to a specialist who confirmed she has Stargardt disease. Stargardt disease is typically diagnosed in adolescence, but that was obviously not the case for Chloé.
Although this news was a lot to process for Chloé, she recognized her diagnosis was a pivotal point in her creative journey. Chloé has always loved and created art, starting in photography in her 20s and making physical collages in her 30s. In those days, Chloé viewed making art as a form of artistic expression and a creative way to manage stress.
Once diagnosed with Stargardt disease, Chloé took time to meditate and reflect on her life. And as upsetting as the diagnosis was, she couldn’t help but feel immense gratitude for the time she has had with her sight. She also realized her sight has only been one aspect of her experiences.
[[image-left 1722]] “I thought everything I had worked to build in my life, and especially my career required my sight,” says Chloé. “I had been creating art on the side for 15 years, but once I got my diagnosis, I decided to lean into my art full-time. I remember telling my husband, "Now is the time to do this,” and I became even more focused.“
Around the same time as her diagnosis, Chloé and her family were also planning a big move from Louisiana to Colorado. So in 2019, they relocated to Denver, and Chloé started working on her art full-time and founded the internationally recognized art practice, Duplessis Art. As her vision began to decline, Chloé shifted to graphic design and creating digital collages, filling her work with vibrant and high-contrast colors. Over the last two years, she hasn’t stopped once, doing seven art shows, traveling outside the country twice, and making national news.
"I credit my art success to my faith and to my belief that life is happening for you, no matter how challenging it seems,” says Chloé. “When life hands me a challenge, I just shift my energy and think about what I can learn from the experience. I acknowledge the fact that I am still physically living, so I have work to do, and I lean into the bright spots in my life.”
With her central vision declining more and her sight fluctuating daily, Chloé uses her computer or tablet to zoom in and focus on what she’s creating. Now, much of Chloé’s art is centered around creating work that elevates the importance of equity and accessibility.
[[image-right 1724]] Since launching her art business, Chloé has also created two large pieces for the city of Denver. Last year, Chloé collaborated with half-deaf painter Valerie Rose to create an accessible mural in downtown Denver. Then the Denver Elections Division reached out to Chloé, asking her to design the city’s “I Voted” sticker for 2022.
“I immediately saw the impact this could have not only for those navigating low vision and blindness but for those that are hearing impaired as well,” says Chloé. “So, I told them I wanted the sticker to have Braille on it, use low vision friendly colors, and also to have some aspect of American Sign Language.”
The Denver Elections Division approved her design, and now Denver (the city and county) is the very first in the country to have an “I Voted” sticker for voters that is accessible and inclusive for the low vision/blind and deaf communities.
Chloé’s already planning her shows for next year, and the theme is “Vibrant Accessibility.” Every show she’ll do next year will encourage people to rethink what it means to be disabled.
“Every season in our lives has value,” says Chloé. “Honestly, if I had not received my diagnosis with Stargardt disease, I may not have taken that leap into art full-time. In a way, my diagnosis was the permission I needed to pursue my passion. But remember, you don’t need a diagnosis or a life-altering experience to prompt you to follow your heart. It’s a choice. Just choose to show up and lean in.”
]]>“Pay attention. You’re going to tell a story someday.”
Those were the words a young Michael Garrigan heard on the football field as he huddled with his teammates. Little did Michael know the whisper of words heard only by him would foreshadow a chapter of his life that would soon unfold in the years to come.
Shortly after, he encountered the first indication of night vision difficulties, which impacted his performance on the football field.
“I noticed something strange happened on a Friday night under the lights playing high school football,” Michael says. “I missed my assignment during the game, where I never saw the defender, I was supposed to block. That glaring incident was an obvious sign of something bad to come, but I had no idea at the time what was going on with my vision.”
The diagnosis of Usher syndrome type 2 came at a pivotal moment in his life, occurring at the age of 22 when a visit for contact lenses led him to an ophthalmologist at a local clinic. In the years that followed, he embarked on a tumultuous journey in which he struggled to accept his new reality, questioned his faith in God and battled with the weight of depression.
[[image-left 2002]] “At a young age I was still not willing to accept that I was losing my sight, so while in denial, I hid it. For years I isolated myself from society for protection to avoid putting my trips, stumbles and falls on public display,” Michael says.
“I believed that losing my sight would display a clear sign of weakness in society,” he says. “I was afraid of what people would think, so I pre-judged people how they were going to pre-judge me.”
Although Michael did not initially envision himself writing a book despite years of encouragement from others, an encounter with someone who recognized the impact his story could have on those who were hurting and in need of inspiration shifted his outlook. The undeniable truth of those words served as a turning point, motivating him to start the process of writing his memoir, “Ushered Out of Darkness.”
“I initially left out a lot of private details, because I was not open to letting the public know about depression and dark thoughts,” he says. “Then, it occurred to me that the book would be useless. For the story to be effective, it had to be authentic — to include things I really didn’t want people to know.”
After years of internal struggles, reconnecting with God proved to be Michael’s saving grace. Embracing his faith and actively participating in local men’s Bible groups enabled him to regain a sense of hope and cultivate a positive outlook on life.
[[image-right 1990]] “The hard truth that I had to accept is that life is tough. Life was never meant to be, nor will it ever be, fair on my terms,” he says. “As soon as I came to terms with that truth, I was able to move on with my life and be on my way to attempt to finish strong on God’s terms as He intended me to do.”
In November 2021, he published his book. With his wife, Becky, they prayed for “Ushered Out of Darkness” to have a positive impact on at least one person.
Miraculously, their prayer was soon answered when Jeff, a man from Texas impacted by an inherited retinal disease (IRD), drove with his wife to meet the author in South Carolina. Deeply moved by Michael’s story, Jeff offered to sponsor the audiobook format for individuals who faced challenges with reading. “Ushered Out of Darkness” is now available in three formats: hard copy, digital and audio.
“The readers response was well beyond what I anticipated,” Michael says. “I received letters from people all over the world with and without inherited retinal disorders who were moved by my story.”
Now at 60 years old, Michael’s vision loss has reached its final phase while his hearing loss has remained constant over the years. Despite this, he remains determined to find solace in the simple pleasures of life. He participates in activities that bring him immense joy each day, including running independently, slalom waterskiing behind his family’s boat and mowing his own grass.
[[image-left 1995]] “For guys like Jayden in Minnesota, David in Illinois, a young lady named Jordan in Ohio and thousands of other people around the world who are suffering from IRDs, or will be diagnosed with one, my advice is do not wait for a cure to start living your life to the fullest. Live now. Turn your weakness into a strength and inspire others.”
Michael currently serves as a resource chair for the Foundation Fighting Blindness South Carolina Chapter. He plans to utilize the Raising Our Sights program to further the impact of his writing, donating the proceeds of each copy purchased to the Foundation while actively looking for creative ways to fundraise through the program. He looks forward to becoming a grandfather in September and continuing to inspire others in the deafblind community.
]]>Meet Alan Gunzburg, a 63-year-old resident of Greenwich, Connecticut. Alan is not only a loving husband and devoted father to two daughters, but also the son of two Holocaust survivors. His life took an unexpected turn in his thirties when he received a rare diagnosis of a retinal degenerative disease, making him the only member in his family with this condition. Despite the obstacles he’s faced, Alan’s perseverance led him to make a positive impact within his community as an advocate for others with visual impairments.
[[image-right 1963]] Although he wore glasses for many years, Alan noticed a drastic change in his vision during a night out with friends at a dimly lit bar, where he struggled to see people. He visited a local ophthalmologist, who then referred him to a retina specialist. After undergoing examinations, he received an initial diagnosis of retinitis pigmentosa, which was later validated by a second specialist.
“I worked for several years after my diagnosis,” he says. “It was the saddest years of my life because I lived in limbo between working and not working. I was disconnected and struggled with talking to anyone else about the changes in my life.”
While visiting the doctor’s office, he stumbled upon brochures from the Foundation Fighting Blindness. He reached out to the organization shortly after and began to attend their local meetings. This marked the beginning of his involvement with the Foundation and several years of genetic testing, which led to a formal diagnosis of Refsum disease.
Refsum disease is a very rare metabolic disorder usually resulting from mutations in PHYH that impair the body’s capacity to metabolize phytanic acid. It impacts many parts of the body, but for Alan, it has caused significant vision loss, hearing loss and physical signs on his hands and feet.
“I was severely underdiagnosed for years,” he says. “I don’t feel cheated, but I do feel that if I had a more thorough exam the doctor would have initially discovered that I have the classic physical attributes from my thumbs to my feet that Dr. Refsum wrote about in the 1950s.”
After receiving his diagnosis, the greatest challenge he faced was rediscovering a sense of self-worth in a world that places importance on who you are and what you do.
“I had to eventually leave my job selling office equipment at Xerox Corporation,” he says. “I realized in my loss of work that there was loss of structure and how I managed my day. Everyone defined themselves by what they do, so that was the hardest part, I did not have something to tell someone. It really impacted me in a negative way.”
[[image-left 1967]] Supported by his family and the local organizations he connected with, Alan embarked on a journey of self-discovery, taking on volunteer opportunities until he carved out his own path of fulfillment.
“I took the sadness of the moment and figured out what I can do to make life better,” he says. “It’s a story I am proud of. I was down as low as I possibly could have gotten, but I found a way through. I found a way to be of service, to use my knowledge to help others and create a brighter present.”
Formerly serving as the Chairman of the Board of Directors for the Department of Human Services in Connecticut, he now has assumed the role of Chairman for the First Selectman’s Advisory Committee for People with Disabilities in Greenwich. Alan also dedicates his time to working with Coffee for Good, a local organization committed to providing training and competitive job placements for individuals with disabilities.
“We help take people post-high school to develop their talents and abilities, so they are ready for work in several industries,” he says. “We help with self-assessment, resume building, interviewing and work placements.”
Since opening two years ago, the organization has successfully facilitated the placement of 18 individuals into local jobs across various industries, and at present, 24 individuals are undergoing training.
“It’s very hard to break the stigma when you have a disability. People may not trust that you can get the job done, but I am most proud of giving a voice to people who for one reason or another cannot raise their voice loud enough,” he says.
[[image-right 1965]] Alan’s vision and hearing have remained stable over the years due to drastic lifestyle changes, including his diet. Early diagnosis for certain retinal diseases and syndromic conditions may help patients make lifestyle changes to preserve their vision and overall health.
“Being mostly vegan has been beneficial for me as a Refsum patient. With the guidance of the Global DARE Foundation, I have been able to enhance my diet with low to no phytanic acid foods to help manage my condition,” he says.
Alongside his loving family and trusted guide dog, Denise, Alan continues to remain optimistic about his future and the prospects of retinal degenerative disease treatments.
“The Foundation Fighting Blindness brought me to this point. My Refsum journey would not have happened without the Foundation and all the work that was done,” he says. “I am very fortunate. I may have lost my job, but I have a great family who loves me and takes care of me. I am happy that I can still see their smiles.”
]]>In 2016, Drs. Léveillard and Sahel co-founded SparingVision, a company developing a gene-agnostic therapy to express RdCVF for the preservation of cone-vision in people with retinitis pigmentosa (RP) and related conditions. The company has received authorization from the US Food & Drug Administration and the European Medicines Agency to launch a clinical trial for the treatment. The venture arm of the Foundation, the Retinal Degeneration Fund (RD Fund), is a founding investor in SparingVision.
“Thierry was larger than life, hard-working, and science-driven with strong personal and scientific ethics. He loved his team and family,” said Dr. Sahel, distinguished professor and chairman, Department of Ophthalmology, University of Pittsburgh School of Medicine and the founding Director of the Institut de la Vision. “He was one of the early founders of the laboratory that became the Institut de la Vision and never stopped to have ideas for projects until his last days. We must continue, without him, but with the same, relentless commitment to science and patients.”
“We at the RD Fund and the Foundation are saddened by the passing of Thierry; however, we are heartened that his groundbreaking contributions to fighting blindness live on to provide real hope to families with RP that vision can be saved,” said Rusty Kelley, PhD, managing director, RD Fund, and SparingVision Board Director. “We are forever grateful to Thierry for his passion and commitment to retinal research.”
Dr. Léveillard previously served as director of the Department of Genetics at the Institut de la Vision and conducted research at the University of California, San Diego, the Salk Institute, the University of California, Santa Cruz, the Genetics, Cellular and Molecular Biology Institute (IGBMC) in France, and was recruited by José Sahel to the Inserm laboratory at Strasbourg Louis Pasteur University, which became the Institut de la Vision.
He received the Foundation’s Trustee Award in 2005 with José Sahel and the Prix de l’Oeil by Fondation de France in 2016.
]]>A native of California, Tara was born with a hearing impairment and wore hearing aids from five years old. As she entered her adolescence, she began to have issues with her peripheral and night vision.
[[image-right 1921]] Tara began working in the restaurant industry at the age of 15. During her time as a cocktail waitress at a local family-owned restaurant, her vision loss became more apparent. She would often bump into objects and people, but this was continuously written off as a quirky character trait.
“I would always run into everybody, and everyone attributed it to my personality since I’m a very energetic person,” she says.
She frequently mentioned her issues with peripheral and night vision to her optometrist in Scottsdale during her annual visits, but she was assured that it was not a cause for concern. It was not until she moved to Tucson for law school and started seeing a new optometrist that she became closer to discovering the truth.
After noticing that her astigmatism was getting worse and discovering that she was hard of hearing, he referred her to a retina specialist. In 2012, after undergoing genetic testing, she was formally diagnosed with Usher syndrome type 2A (USH2A) during her final year of graduate school.
“Realizing that I’m hard of hearing and losing my eyesight was very devastating,” says Tara. “There have been a lot of challenges, but the biggest challenge for me has been facing the unknown. Not knowing how long I have left to see has been hard, so I just try to enjoy every day and spend time outside looking around.”
Tara completed her studies at the University of Arizona College of Law despite her diagnosis and established a successful career as an attorney, specializing in child welfare. Initially inspired by her father’s experience with the law, she increasingly became passionate about advocating for others.
[[image-left 1919]] “When I was in law school, I did a child and family law clinic for over a year, which provided hands-on experience,” says Tara. “I was able to go to court and advocate for real clients, so that’s what ignited my interest in child welfare. I really enjoyed helping the families when I could.”
After passing the Arizona bar exam, she represented the Department of Child Safety with the Attorney General’s Office and currently represents the Pascua Yaqui Tribe.
Tara has curated an amazing support system over the years, including family, friends, and colleagues. She has also formed connections with fellow deaf-blind support groups such as the Foundation Fighting Blindness, participating in events such as the local Arizona VisionWalk and 28 Mile Walk/Run Facebook Challenge to connect further with individuals who share similar experiences.
“Since I represent a tribe in the entire United States, there are times when I may have to go out of town for a case. My coworkers have been fantastic with driving me and picking me up,” she says.
Beyond the legal realm, Tara continues to lead a life of advocacy, participating on the board of directors for the Usher Syndrome Coalition and engaging in discussions with legislators in Washington, D.C., through events such as ‘Ush on Capitol Hill’ to encourage for more funding and cures. She also utilizes social media to shed light on deaf-blind diseases and her personal experiences through her Instagram @UshLawyerMom.
[[image-right 1920]] “Over the last few months, I’ve become more involved in the deaf-blind community because I realized there needs to be more awareness,” says Tara. “A lot of people think that blindness is just someone who sees black, but they don’t realize that it’s really on a spectrum.”
Tara looks forward to continuing her journey of activism inside and outside the courtroom and creating lifelong memories with her two daughters as they begin to travel the world together.
]]>The term “caregiver” feels inappropriate when people use it to describe my relationship with my wife. If you call me a caregiver, you should call Ann a caregiver too. We take care of each other.
Ann is blind, yes, and I do things for her. If you are married, I bet you do things for your spouse too. If you are taller, you get things down from the top shelf. If you are the better cook, you make more of the meals. And if you’re the one with eyesight, you read the labels and sort the mail. Possibly you do most of the driving.
[[image-right 1505]]But caregiving can work in both directions. Just as I do things for her, Ann does things for me. She bakes and cleans and does laundry. She feeds the dog. She organizes our finances. She also works full-time (more than full-time, actually) and brings home more than her fair share of the bacon.
In other words, like any successfully married couple, we share the day-to-day work of running our household, each according to our ability.
My biggest problem with the word “caregiver” is that it suggests a lack of balance in our relationship, as if one of us were invalid. Sometimes Ann refers to me as her “sighted helper.” That term also suggests a lack of balance, as if I were a clever, well-trained dog. But I love dogs, so I don’t mind.
It’s also useful because it emphasizes my utilitarian role. If I’m accompanying Ann as merely a set of eyeballs with legs, it makes sense that I should be able to sit with her at professional conferences and get in without paying.
By and large, we navigate the world pretty well. But I have a habit that bothers Ann. I keep offering help.
That may not sound like the kind of habit that imperils marriages, and it doesn’t imperil ours. But it does cause enough friction that we have to stop sometimes to make roadside repairs.
From my point of view, this isn’t just about blindness. Are you old enough to remember the Anacin commercials of the 1960s that included the line, “I’d rather do it myself”? Nobody, sighted or blind, wants some old busybody hovering in the kitchen, cluelessly suggesting that the cook try using salt.
And when the cook is blind, that dopey suggestion takes on a ring of condescension. The busybody is implying that the cook doesn’t know what she’s doing. Or, worse, that she’s not capable of doing it.
I try to live by this rule: Help by not helping.
Self-sufficiency is Ann’s guiding value. If she asks for help, that’s one thing. Until she does, though, I’m supposed to respect that she probably has a plan. One that doesn’t involve me.
The trouble is, Ann’s guiding value sometimes conflicts with one of my own – namely, to be of service to the people I love. One day, early in our marriage, she remarked that she was thirsty. Immediately I was on my feet, heading to the kitchen.
Ann protested that she had not asked me for anything. “If you say you’re thirsty,” I said, “I’m going to offer you a glass of water.” Since then, “If you say you’re thirsty… ” has become our shorthand for not taking this self-sufficiency thing too far.
The way I was raised, you don’t wait to be asked for help; you simply help, because that’s what you would want others to do for you, and because it would be rude not to. The classic example that any Minnesotan would recognize is coming upon a driver stuck in a snowbank. You don’t wait to be asked; you just get out and push.
This past winter, we encountered one of our neighbors in just such a fix. I went to push, and soon Ann was jostling for a place alongside me, next to the stuck car’s spinning tires. I thought it was a risky place for her to be, so I yelled at her to move away.
“I can push!” she yelled right back.
I would never call Ann pushy, but yep. She can push.
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In my work as a clinical psychologist, I have come to understand that each person is a whole human who matters, entirely apart from any disability they may have and any emotions they may be feeling. It’s common for people with progressive vision loss, such as I experience with retinitis pigmentosa (RP), to feel grief and helplessness each time they realize they can no longer see something they used to be able to see. I know those feelings very well.
[[image-right 1944]]For example, in my late 20s, I found I could no longer see the notes I had taken with a regular pen. I switched to a bold marker with a wide tip, but I grieved the loss of that regular pen. Around the same time, I needed to stop driving. I experienced much grief with that loss. More recently, I have lost the ability to see features in the faces of people I love. A few years ago, with perfect lighting conditions, I could make out some of their features. Now, I cannot.
RP is common in my family; three of my siblings, my mother, my grandfather, two uncles, and several cousins shared the diagnosis, so I knew what awaited me as I got older. Today, two nieces in their 20s face similar prospects. I try to model for them what I have learned about dealing with grief and loss.
In my work, and also in my personal life, I use principles of Acceptance and Commitment Therapy (ACT), developed by Stephen Hayes, and Narrative Therapy, developed by Michael White and David Epston. These principles help me accept what I cannot control and relate to the blindness as separate from the whole person I am. They inform my adjustment goals of striving to show up each day with actions I approve of, consistent with my values.
Blindness may walk alongside me and have unwanted effects that require problem-solving, but it is not who I am. My values and my actions define who I am.
I choose how to relate to the emotions of grief and helplessness. I try to remember to have compassion for myself and to understand what emotions are for: They only show up to tell me what matters to me, what I value.
The grief tells me that I value the idea of seeing what I was able to see a year ago and that I care about being as self-sufficient as I can be. The helplessness tells me the truth that I cannot control the vision loss and that I care about my functioning. If I did not care about these values, the emotions would not show up. The emotions are self-validating if we can open up to them and not struggle with them. Validation of the emotions is important for adjustment to the new truths in the present moment.
If you are troubled by such feelings, here are some ideas for inviting in a truth-based relationship to grief and helplessness:
You are not the blindness. You are a whole person, uniquely you. And you matter.
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This Beacon Story is brought to you in partnership with Athletes for Hope.
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