A SPANISH family is leading an extraordinary grassroots campaign to fund research into a rare genetic disorder that affects just over 100 people worldwide – including their five-year-old daughter, Lea.
Through their restaurant, the Levante Street Food Bar in Los Caños de Meca (Cadiz), parents Alfonso Cabilla, 44, and Begoña, 43, are organising the Levante Aid Fest – a lively, homegrown music and food festival dedicated entirely to raising money for GNB1 syndrome research.
The condition, which prevents Lea from walking or speaking, has no cure or approved treatment.
Now preparing for its third edition on September 27, the festival is more than a community celebration – it’s a lifeline. “Last year’s event raised around €16,000,” Alfonso told the Olive Press.
Every penny was sent to researchers at the Vall d’Hebron hospital in Barcelona who are working on a potential breakthrough: a gene therapy aimed at improving the lives of children with GNB1 syndrome.
“Some families are very hopeful about the therapy, others are more cautious,” Alfonso admitted.
“We like to stay hopeful. We’ve heard there have been promising developments in the past few months, but it’s still too early.”
While there is no timeline yet for when a treatment might become available, early signs suggest that it could take three years or more for the therapy to be ready – and even then, how it will work and who it might benefit remains to be seen.
The hospital is currently spearheading one of the first efforts in the world to develop a gene therapy for GNB1 syndrome – a potential breakthrough that families like Alfonso and Begoña’s are helping to fund themselves.
Lea was diagnosed with GNB1 syndrome after years of developmental delays that left her unable to speak or walk.
The genetic mutation, discovered only in 2016, affects how brain and nerve cells communicate. While some children eventually learn basic motor or verbal skills, many – like Lea – rely on round-the-clock care and specialised therapies.
Every week, Alfonso and Begoña make the long drive to San Pedro de Alcantara, where Lea works with a pediatric specialist on motor development. It’s one part of a broader therapy routine aimed at improving her quality of life.
“Her life is focused on receiving therapy,” said Alfonso. “But she really loves being outside and going to the park. She lights up when she sees other children.”
Lea may not speak, but she’s found her own way to communicate. Using an augmentative communication tablet, she selects colours and symbols to share her thoughts and needs.
“We understand what she wants to say,” her father says. “But it can be hard for others to follow.”
Recognising the urgent need for more research, Alfonso and Begoña joined with other affected families to create the Gen Rebelde Foundation, a non-profit organisation supporting GNB1 research.
The foundation plays a central role in channeling funds raised from the Levante Aid Fest directly to the scientists working to find answers.
“More children are being diagnosed with GNB1 almost every month,” Alfonso explains. “Doctors and researchers are learning more all the time, but funding is the biggest barrier.”
While the medical community races against time, Alfonso and Begoña remain steadfast in their mission – juggling parenthood, advocacy, and entrepreneurship. At the heart of it all is their daughter, who inspires every effort they make.
Despite the everyday challenges of caring for their child with a rare condition, Alfonso and Begoña remain committed to their mission.
They continue to take life one day at a time, holding onto hope and pushing forward with unwavering determination.
If you would like to learn more about GNB1, or want to make a donation to help fund the research, visit the foundation’s website or visit the Instagram page.
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