Rosa

Our story is similar to that of many families who must face an Usher Syndrome diagnosis during their child’s early years. In our case, after a smooth pregnancy and a normal newborn hearing test, the first symptoms appeared around our daughter’s first birthday. We noticed hearing difficulties, but they were repeatedly attributed to recurrent ear infections. With no history of hearing loss in our family, there was nothing that hinted at what was to come.

At the age of three, we finally received a diagnosis: moderate hearing loss. Our daughter would need hearing aids to develop spoken language. It was a frightening moment, fear of the unknown. She began speech therapy, and through remarkable effort and perseverance, progress began to show.

Just as things seemed to be improving, a second diagnosis arrived: mutations in the CDH23 gene, indicating a possible case of Usher Syndrome. We had never heard of the syndrome or of retinitis pigmentosa. The impact of this news was devastating. We now faced not only hearing loss, but also the possibility of progressive vision loss.

Despite everything, our daughter continues to amaze us every day. With determination, resilience, and great dedication, she is thriving. She is a joyful child who loves to travel and dreams of visiting every country in the world. And yet, we are left with a painful question: how do we explain to her that one day she may lose her vision?

Around the world, families affected by USH1D are coming together to support one another, raise awareness, and advocate for research. For families like ours, HOPE in scientific progress means everything, because time is working against our children.