Catalunya Ràdio: Living with a rare disease

Article published and broadcasted on Catalunya Radio | 28.02.2023

Rare diseases affect 5 out of every 10,000 people; like Bruna, with Usher Syndrome type 1B.

The case of Bruna, born with Usher syndrome.

Bruna Espinosa is a 2-year-old girl who has this disease, diagnosed in only 400,000 people worldwide, with less than 2,000 cases in Spain, and which affects vision, hearing and balance. She was born with profound deafness, with a lack of balance and during childhood she will also lose her sight.

There are 3 types of Usher. The most severe one is type 1; the one that Bruna has and for which there is no possible treatment yet. Berta Adell is Bruna’s mother and explains to “El matí” about the disease and the organization they have created.

If you’d like to help us fund groundbreaking research to defeat Usher syndrome, click the Donate button.