Dancing in the dark

Sofia, 13, believes that success rests in the power of perseverance—and elegant pliés, of course. Leber congenital amaurosis (LCA) may be limiting her vision, but it isn’t stopping this young ballerina from pursuing what she loves.

Transcript

Laura: My name is Laura, and my husband, Charles, and I have three kids: Dante, Sofia, and Luca.

And, our middle child, Sofia, has Leber congenital amaurosis with a defect on the IQCB1 gene.

She was born with significant vision, while a lot of children, I understand, are born without any vision at all. So, in that way we were pretty lucky.

Sofia: It’s just really difficult to see in bright lights and things that are far away. And, sometimes, when I go from a dark to a light room, for a couple seconds, I just can’t see anything and my eyes just start hurting. Sometimes when it’s, like, really dim everything is just super blurry. I’ve noticed more lately that it’s just harder to see when it’s darker; whereas before, I could see really well when it was dark.

Laura: When she was about 2 years old, we started noticing that she would be more tactile about things. She would get down on the ground. If she noticed there was a difference in color, maybe the carpet changed color, and she would actually feel to make sure it was all one level.

The women in daycare, probably that was the most shocking part, they brought it to our attention that when they would give her Cheerios out of their hands, she would have to get all the way in, and really lean in and feel around for them.

And when she was 3 to 4, we took her for some testing. We did an ERG, and with that got a clinical diagnosis of LCA. The doctor told us, “Come back in 5 years and see if things have changed.”

So, we did that. We went back 5 years later and repeated the ERG. And, after the ERG, she came in and—I’ll never forget this—she got very close to my face and she leaned up and she said, “Everything has changed now; and, there is a lot of hope. And, you need to start paying attention.”

We have her genetic diagnosis now and we know we can follow the research, and the things that are happening, better.

Sofia: When I first started ballet I was 3.

Laura: The school where she dances now is fantastic. They have a great team spirit about dancing. The teachers are really good.

Sofia: My teacher, Gail, is really nice and she is really good at explaining what you have to do audibly and not, like, visually.

Laura: She gives beautiful corrections so Sofia can hear them across the room. She knows that when she is speaking to her—she remembers to use her name. So, just small accommodations like that have really helped her be successful.

I co-founded a non-profit, 501(c)(3), organization called Sofia Sees Hope. It is inspired by my daughter, but our hope is really to bring awareness of inherited retinal disease and LCA, and then really pull together the LCA and inherited retinal disease community. The only way you really have a clear diagnosis of LCA is to know your gene. So, the very first step is getting tested. The more we can pull together and drive awareness of the importance of genetic testing and research, the better—hopefully—it will be.

And, maybe it will be too late for my daughter, but we can fix it for her kids.