The Challenge of the Plana Usay Family: Raising Funds to Research Their Daughter Beth's Rare Disease

Until recently, Beth Plana Usay was the only known case in Catalonia of a mutation in the Auts2 gene. Now, a global campaign launched in the United States aims to raise $300,000 to promote research, therapies, and treatments for cases like hers.

Beth is a 7-year-old girl from Les Borges Blanques who has a mutation in the AUTS2 gene—a rare condition that causes developmental delay, intellectual disability, ADHD, and autism-related traits. Until recently, her was the only known case in Catalonia, leaving her family with limited medical references and little specific information about the disorder. However, another case has recently been confirmed.

Despite this, the uncertainty surrounding the disease has begun to change in recent months—and this is happening worldwide. An American family facing a similar situation launched the Auts2 Research Collaborative project this spring. The initiative aims to bring together families from all over the world with children affected by this syndrome, attract top-level scientists, and promote the search for therapies and treatments that improve their lives.

To support this effort, the organization launched a fundraising campaign seeking to raise up to $300,000 to finance various lines of research. Every donation received is matched by the promoters of the AUTS2 Research Collaborative.

As part of this campaign, Jordi Plana and Yolanda Usay have already raised $10,834 to support Beth and other children with the AUTS2 gene mutation. More than 60 people have contributed so far. The campaign portal is: http://www.givebutter.com/auts2gether-2026-qitx1j/bethplanausay

Until Tuesday, September 8, all donations will be doubled, with the goal of reaching the target amount as soon as possible. At the time of writing, $259,516 had been raised—representing 86% of the total goal.