Bruna was born in October 2020 in Geneva, Switzerland. She is now 4 years old. At just 8 months old, she was diagnosed with Usher Syndrome Type 1B. Bruna is a cheerful, communicative, active, and happy child. She loves books, swimming pools, the sea, and slides, but what she enjoys the most is giving orders and treats to our dog, Pippa.

The shock of the diagnosis and the decision to give our daughter cochlear implants made 2022 the most challenging and difficult year of our lives. Knowing that she might lose her vision is an extremely hard reality to manage.

Bruna received her two cochlear implants at the ages of 11 and 15 months—first on the right side and then on the left. For us, her parents, it was an incredibly important and difficult decision, and we went through the process with worry and anguish, even knowing we were making the decision that seemed right to give our daughter the gift of hearing. With the advancements in technology, we felt it was an opportunity to take advantage of, allowing Bruna to hear the world.

Bruna speaks Catalan and French, sings in English, and occasionally picks up a word in Spanish. She loves music, improvising rhymes to melodies she knows, and playing with language—showing her deep passion for listening and hearing. It’s a joy to see her delight in sounds.

Her physiotherapy sessions were very tough at first, but now they are like a game—she always wants more courses, more jumps, more trapezes. These sessions give her a sense of security and freedom in movement. Recently, she started walking with relative confidence on grass, managing its irregularities and holes. A while ago, she began climbing hills, and just last week, she went down her first steps alone without holding on to anything or anyone. She loves climbing!

Bruna is a child with a strong character and determination; she knows what she wants. We are enchanted by her beauty and strength. She is our love, and it is for her that we started Save Sight Now Europe and work every day to find a cure for Usher Syndrome Type 1B. For her and for all the children and adults with whom we share this space of Usher stories.

Working daily on Usher Syndrome has many facets, but there are two that stand out as opposites:

• Constant work with teams, reading documents, researching, identifying potential programs to propose and to whom, staying in constant contact with mutations, treatments, the steps needed to progress, the challenges researchers face, the unknown fragments of MYO7A, correlations, and the activity of the protein.
• Communicating with families who write to us, asking questions about their children, siblings, or themselves, all at different ages and stages of the disease. Witnessing all the possible stages Bruna may go through.

At the same time, we work tirelessly to ensure she never reaches those stages and to reverse the different stages for all those we know. We are deeply certain this is the right path and proud to dedicate our time and talents to our daughter’s future.

The constant contact with researchers and the reality of progress, coupled with the lack of funds and the need for greater speed, make this fight both stressful and motivating. Bruna often says she wants to work because she sees us working so often, taking shifts to ensure we enjoy family time with her while continuously seeking pathways to treatment.