The family, living in Rome, have left troublesome times behind them. Now that little Beatrice has been diagnosed to have the rare genetic disease that made her blind, a period of tears and sleepless nights, of frequent and multiple-day visits to hospitals has come to an end. The news (“your daughter has LCA”) was devastating, but at least the uncertainty was over.
Cristian explains in a mild, rational tone: “A non-functioning protein is causing our daughter’s blindness. This protein is supposed to help the development of cilia in the photoreceptor cells in the retina. Beatrice’s protein doesn’t work – causing subsequent retinal degeneration in her eyes.”
While Beatrice is her happy self, singing songs and playing with Edoardo in a kids’ ball bath, Silvia recalls, “At birth, Beatrice looked like a happy, normal baby. Soon I noticed something unusual. I couldn’t make eye contact with Beatrice the way I had with Edoardo, when he was her age. As a mother, I knew instantly that something was wrong”, says Silvia.
It was the start of months of hospital visits, first in Rome, later in Florence and even London. Cristian: “As a father, the idea of not knowing what was wrong with my daughter was unbearable. For many days and nights, I looked in all corners of the Internet, searching for clues. I was puzzled and frightened by the idea that doctors seemed to be in the dark. Some were quick to encourage us to accept that our daughter would never be able to see. As if they wanted us to accept and get over it as quickly as possible.”
Theories ruled out one by one
Many different theories – from ‘delayed vision maturation’ to ‘retinoblastoma’ to ‘neuroblastoma’ – were ruled out one by one. Finally, one doctor concluded that Beatrice must be one of the few patients in the world that suffer from a rare genetic disease that is known as Leber congenital amaurosis.
While looking at Beatrice immersed in her play, wearing glasses to help protect her eyes, mother Silvia ponders about her daughter’s life. “She does not understand the concept of seeing – hence she is not unhappy, not knowing what she is missing out on. She sort of feels and hears her way around her little world. In darkness, but unaware of what having sight means. One of our big fears is that sooner or later she will realize she has a different perception of the world, she will understand she is missing something. She’s already puzzled when we discover a nearby dog that didn’t bark. Beatrice is asking questions we don’t know how to answer: “Daddy, I want to make a small painting like Edoardo” or “Edoardo, how was the movie at the cinema yesterday? Why can’t I come with you?” And every time we hold our breath and fall silent. We don’t know if she will ever be able to create a painting or to watch a movie, and deep in our hearts we hope a cure will make it possible, but the pain we experience forces us not to hope too much.”
She plays, sings and learns
Cristian insists that Beatrice is an easy, happy child, and seems to be developing in some ways faster than other children her age that can see. “She does need care, more than a sighted child does. We, our nanny and Beatrice’s grandparents are happy to provide this and lead a normal life as a working family. Beatrice goes to a regular kindergarten supported by an additional teacher, where she fits in wonderfully with all the other kids. Every day she plays, sings and learns to deal with other kids. Later, she will go to a regular primary school that will support her in growing up.”