LCA Families ‘Mix and Mingle’ Virtually

Families living with Leber congenital amaurosis (LCA) came together virtually, sharing their hopes and triumphs, their challenges and frustrations as part of the three-day Virtual VISIONS 2020 conference in late June, the annual flagship event sponsored by the Foundation Fighting Blindness.

Beth Borysewicz, Vice Chair of the Board of Sofia Sees Hope and a teacher of students with visual impairment, moderated the LCA Mix & Mingle forum that gave participants new ideas, new contacts and new knowledge about ongoing clinical trials and an approved LCA treatment.

A mother in Canada described her frustrating search for the right doctor and appropriate resources to help her 15-month-old son, who has LCA1 caused by a mutation in his GUCY2D gene. With months passing and her son growing, she worried that delays could impede helping her child. She received specific contact information for a Canadian retinal specialist from Ben Shaberman, the Foundation’s Senior Director for Scientific Outreach & Community Engagement. He also reassured her that she has not missed out on a GUCY2D clinical trial because it is not ending; it is moving into another phase and she would need to reach out to researchers conducting the trial.

Amy Reif said her daughter did not take part in the trials for the now federally approved LUXTURNA® gene therapy, but she described the girl’s visual improvement two years after she underwent treatment for LCA2 caused by a mutation in her RPE65 gene. “I will say that LUXTURNA® is not a cure,” she said. “It’s a treatment and things have improved immensely. It’s
not perfect, but it has really improved just the way she is able to get around and her sensitivity to light is so much better.”

Krista Giannak, diagnosed with LCA-CEP290, tried to get into a clinical trial. “I wanted to go for it,” she said. “I have a sense of adventure and I thought it might be interesting to learn what color looked like or what art would be like or even just to have more light perception potentially.” But during the clinical trial screening, Krista learned she had more light perception than she previously had thought, but not enough to go forward in that particular trial.

A father of a toddler living with LCA shared that only one copy of the mutated gene NMNAT1 had been found and asked how to go forward, knowing both copies of the mutated gene have to be found for a confirmed genetic diagnosis.

The father also asked about the chances of a second child also having LCA. Laura Manfre, Co-Founder and President
of Sofia Sees Hope, shared that her family had a similar concern after her daughter, Sofia, was diagnosed with LCA and that she understood his apprehension. She and her husband did decide to have another child, who is 10 now and does not have visual impairment. During the virtual session, participants also discussed exchanging contact information to talk together in the future.

“Making connections!” Borysewicz said. “That’s what this part of the conference is all about.”

You can view the recorded sessions from the conference at fightingblindness.org/recorded-sessions