The documentary Moure Muntanyes, directed by Carles Prats, follows the odyssey of a group of families who refused to accept the diagnosis of their children, affected by CTNNB1 syndrome, an ultra-rare genetic disease causing severe cognitive and mobility problems. This syndrome currently affects about 450 people worldwide and 36 families in Spain.
“"One of the hardest things is being told there is no possible cure or treatment. These diseases are so ultra-rare that the numbers don't add up, and nobody wants to research them… It was very hard, and we felt helpless."
Faced with a lack of public or private funding for research, these mothers launched a massive fundraising campaign, managing to raise 4 million euros. These funds were used to pay, out of their own pockets, for the world's first clinical trial of a gene therapy designed to address the root cause of the disease.
“"Many people told us we were crazy, asking what we were doing, that we would never reach the goal because we needed millions of euros and we weren't experts. It is truly out of this world that ordinary people became scientists."
The long-form report also features personal testimonies, such as that of Martí's family, a child from Badalona who was the first diagnosed with CTNNB1 in Spain. The parents lament the initial feeling of loneliness before connecting with other families suffering the same situation, support that proved vital to starting their collective fight.
