Living with LCA: Life Through Vicky’s Eyes

Preschooler Vittoria shrieks with delight as she bounds down the cobblestone way, toward the big statue of the angel riding a chariot. Later we see the almost-4-year-old, nicknamed Vicky, tossing a coin in the azure waters of an elaborate fountain. Yet another image shows the little girl with glasses going bump, bump, bump, down the ancient marble steps on her bum.

This is all part of her parents’, Silvia and Enrico, effort to help their daughter see as much as she can while she still has vision.

The couple learned in April 2016 that their daughter had Leber congenital amaurosis (LCA). Vicky was 2½ and her mom was six months pregnant with little brother Filippo. That October, doctors genetically diagnosed Vicky with LCA-RDH12. Filippo carries the gene, but he is not affected by Leber congenital amaurosis.

On a recent trip to their native Italy from their home in the U.K., the family took in many sights, including Winged Victory, a majestic statue of the goddess Victoria riding a chariot pulled by four horses, atop the Altar of the Fatherland, and the stunningly ornate Trevi Fountain.

The images are from their Facebook video, “Come see with me . . . Rome!” or “Vieni con me a . . . Roma!” Vicky smiles and at times looks straight into the camera with her big brown eyes.

The video is among several “come-see-with-me” stories created by Silvia, and it represents one of the three goals the couple has for Vicky – to show her all they can while she still can see, before the effects of the Leber congenital amaurosis fully take hold.

The second goal is to support Vicky’s development despite her sight impairment. They look for the right kinds of social, educational and technological environments in which their daughter can thrive.  

“As parents, this is what you do,” Silvia said. “You invest all your effort in fighting for a better life for your kids.”

Their third goal is to do all they can to help find a cure. They have attended rare retinal disease symposiums, which led to an invitation to a family conference where they connected with researchers.

Silvia worked to find people around the globe – the U.K., Italy, Germany, South Africa, China, Australia, Canada and the U.S. – to partner with families and to raise money to fund research to correct the RDH12 gene.

They’ve connected with a group of U.S. families who are part of the RDH12 Fund for Sight. One of those families is Allison Galloway and her husband, Michael, who live in Colorado with their children, 6-year-old Logan and 4-year-old Zoe, both of whom have the RDH12 mutation. They also joined with people in Europe through Candle in the Dark.

Silvia and Enrico learned quickly that much needs to be done – and fast – to find treatments and cures. They’ve launched campaigns to support their near-future goal of funding the work of two researchers concentrating on RDH12.

Amid these efforts, Silvia said she has good days and bad days.

The family had a terrible scare recently when Vicky could see nothing for a few seconds as she rode on an escalator. “The thought of going suddenly black was really, really frightening,” Silvia said.

Then there was the time when their school of choice for Vicky made them feel as if they “shut their door in front of us,” saying they had no experience with sight loss and showing no willingness to learn or support the child.

“It was really, really heartbreaking. This complete, cold, concrete reality,” Silvia recalled.  

They found another school, where Vicky is flourishing. To help educators understand Vicky’s level of sight, a visual-impairment teacher brought glasses simulating Vicky’s vision for the regular teacher to try. Silvia said the teacher’s jaw dropped when she learned she was experiencing how Vicky sees now.

Silvia said it is incredible what her daughter can accomplish. Vicky does everything all the other kids do. She climbs and plays, she’s vibrant and full of energy, and she loves pizza and hearing stories.

“Now she’s into the fairies and princesses. Every night we have to read three books and she always asks for more.”

Vicky, who will turn 4 on Christmas Eve, does not quite understand her sight loss. “We haven’t fully told her yet; she knows she wears glasses and they help her see better … I know the worst is yet to come.

“On the other side, we have committed now to do everything we can to help, including fundraising for an RDH12 cure. It’s actually liberating because it’s given us purpose and initiative in life.”

Silvia’s thoughts on the future:

“Maybe the message is cliché, but it’s really about hope and doing everything we can. I don’t want to give up. I feel a sense of urgency because I feel it might come a little too late.

“I want to say 50 years from now, I’ve done everything I can. In the worst-case scenario, it’s going to help future kids, and still it is going to show Vicky the importance of fighting for your hopes and beliefs.

“In the best-case scenario, imagine a cure is coming in time and we can help kids like Vicky see for longer! If I had even a little role in making this happen, imagine how fulfilling that would feel.”

Follow Vicky’s journey here.