On October 7, Hope in Focus joined the Branford Lions Club at Quinnipiac University in Hamden, Connecticut, for “Rare Eye Diseases: Awareness, Advocacy and Action.” Held in collaboration with Quinnipiac University’s Frank H. Netter MD School of Medicine and the Denise D’Ascenzo Foundation, the event brought together local Lions Club members, patient advocacy organizations, medical students, healthcare professionals, patients, and caregivers to discuss rare eye diseases and their impact on individuals and families.
The meeting focused on raising awareness of rare eye diseases, exploring the challenges faced by those affected, and identifying opportunities for the Lions to support meaningful education, advocacy, and community engagement.
As part of Hope in Focus’ mission to advance the development of treatments for blindness caused by Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs), we were grateful for the opportunity to share our work, connect with community members, and help raise awareness of the needs of individuals and families living with these conditions. Hope in Focus also hosted an informational table where attendees could learn more about LCA, inherited retinal diseases, and available resources.
Exploring Rare Eye Diseases and the Challenges They Present
The evening featured several panels and presentations highlighting different aspects of rare eye diseases, from medical research and diagnosis to the lived experiences of patients and families.
The first panel, led by Maureen Helgren, PhD, provided an overview of rare diseases, emphasizing the importance of awareness and the challenges that individuals and families often face when navigating these conditions.
Four medical students from Quinnipiac’s Netter School of Medicine followed with presentations on four eye diseases: Cogan syndrome, retinitis pigmentosa (RP), choroidal melanoma, and Stargardt disease. Their presentations offered attendees an opportunity to learn more about these conditions and the importance of continued education among future healthcare professionals.
The Patient and Family Perspective
Hope in Focus Executive Director Courtney Coates participated in a panel focused on the experiences of patients and families affected by rare eye diseases. She was joined by two LCA caregivers, DJ Broadbin, mother of Jace, and Marcy Ward, grandmother of Michelle Ward.
Jace is one of four children who received an eye injection in London as part of a clinical trial for LCA4 associated with mutations in the AIPL1 gene. Michelle is a young woman living with LCA8, a mutation in the CRB1 gene.
Together, the panelists discussed the realities of navigating a rare diagnosis and the importance of genetic testing, accessible education, and stronger connections between medical professionals and the patient community. They also highlighted the need for appropriate assistive technology, educational tools and resources to help individuals with vision loss thrive in school and everyday life.
Their perspectives underscored the importance of ensuring that patients and families are active participants in conversations about research, treatment development, and the resources available to them.
Learn more about their journeys: Jace’s Story | Michelle’s Story
Research, Education and Community Impact
The discussion continued with Dr. Matthew Bakhoum, physician and scientist at Yale School of Medicine, and Michelle Wyatt, President of the Connecticut Lions Eye Research Foundation (CLERF). Together, they explored the role of research and education in advancing the understanding and treatment of eye diseases, as well as the broader impact of community support for these efforts.
The evening concluded with a panel titled “From Ideas to Action,” which explored ways the Lions could turn the conversations and ideas shared throughout the meeting into meaningful, lasting change. One proposal was to create a new Lions Club at Quinnipiac University, along with a five-year plan to guide future initiatives and community impact.
Building Connections and Looking Ahead
Hope in Focus is grateful to the Branford Lions Club, Quinnipiac University’s Netter School of Medicine and the Denise D’Ascenzo Foundation for bringing together such a dedicated group of individuals committed to improving the lives of those affected by rare eye diseases.
Events like this create valuable opportunities to connect patients and families with healthcare professionals, researchers, students, and community advocates. They also help build awareness of LCA and other inherited retinal diseases while encouraging new partnerships and ideas that can move the community forward.
We were especially glad to meet new members of the LCA community, reconnect with familiar faces and share information about Hope in Focus and the resources available to individuals and families affected by these conditions.
Through continued education, advocacy, and collaboration, we can help build a stronger, more connected community working toward a future with treatments for inherited retinal diseases.