Beatrice living with Leber congenital amaurosis Welcome to the happy world of Beatrice

When someone watches Cristian, Silvia and their kids Edoardo (age 6) and Beatrice (age 2) they look like the ideal, happy family. When asked, the parents insist they are, in many ways. The fact that Beatrice, the chatty girl playing in a ball bath, is a child with Leber congenital amaurosis, does not change that.

A photo of Cristian, Silvia and their kids Edoardo and Beatrice. Beatrice has Lber congenital amaurosis 10

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.”

Something unusual

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.”

Beatrice playing in a ball pond

“Edoardo had a tough period, finding out about Beatrice’s condition. He is very protective of her, making sure that she does not fall”, Silvia adds. Cristian, suddenly smiling as he remembers something funny: “He is aware of her handicap and is very accommodating. When he notices she wants to give him a playful punch, he comes closer to make it easier for her.”

Embracing life

Beatrice will have to learn life, “and we will need to accept her condition in some way”, Cristian is quick to add. “Fortunately, we found a wonderful life coach, for Beatrice and for us. She is a blind psychologist, living in Rome. She is the most active and outgoing person in the world, who loves motorbikes and scuba diving – she is the embodiment of ‘embracing life’ and is a great support for all of us.”

In the meantime, Beatrice has come out of the ball bath. She stomps her feet and makes small smacking sounds with her mouth. ‘Echo location’, Cristian points out. “She is trying to ‘hear’ her location and the size of the room, very much in the way dolphins do. As with many children, she develops the use of her other senses at an extremely high pace. Some blind children advance slowly and even develop autistic features, but not Beatrice. She is doing wonderfully”, her proud, smiling father says.

On the lookout for treatments

The genetic tests results that ended the search for the explanation and the cause of Beatrice’s blindness, did not end the quest of Cristian and Silvia Rengo. “We are always on the lookout for treatments that may – one day – make Beatrice see. I reached out to almost every LCA10 expert in the world. I keep track of scientists, researchers, institutes and companies that may be on to something promising. That is how I quickly found ProQR and recently met its founder, Daniel de Boer and the LCA team. They answered our questions about the ongoing clinical trial of sepofarsen for LCA. Beatrice is too young to enroll in ProQR’s current study, we’ll be closely watching how it advances.”

Cristian & Silvia, parents of Beatrice

Although Cristian and Silvia – both highly-educated professionals working in management consulting – passionately wish their daughter to be able to see someday. “I am aware that she currently does not know what she is missing. She may understand later. For us, LCA changed our lives very much. We are still adapting to the new situation and we keep giving all the love we have.” The Rengo family plans ahead. “Beatrice likes biking and swimming, but she absolutely loves skiing.” Cristian: “I carry her in a special backpack. At age five, she will be able to learn for herself, at a specialized ski school in the Dolomites. We look forward to that.”

Good news

Waiting for good news from Leiden, The Netherlands, or from any other research center in the world, Beatrice’s parents will try to teach her to live a full life. “She will definitely learn braille, have an education and grow up being the happy, lovely Beatrice she already is”, Christian insists. “We will be there for her, be her parents. And pray for a cure, preferably sooner than later. Hope? Yes, of course. But we don’t want to get disappointed. Therefore, we are careful not to hope for too much.”

Source: ProQR's Annual Magazine 2017

Learn more about sepofarsen for CEP290 LCA.