Spanish Parents rally for Rare Genetic Disorder Support through Music, Food, and Hope

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. 

Lea is unable to walk or speak due to a condition for which there is no approved treatment or cure.

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.

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Researchers at the Vall d’Hebron hospital Barcelona is home to researchers who are working towards a breakthrough in gene therapy aimed at improving children’s lives with the GNB1 syndrome.

Alfonso acknowledged that “some families are hopeful, and others are more cautious” about the therapy.

We like to be optimistic. It’s too early to tell if there’s been any positive developments over the last few months.

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’s GNB1 was diagnosed after she had suffered from developmental delays, which left her unable walk or speak for many years.

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The mutation, which was only discovered in 2016, affects brain and nerve cell communication. 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. This is part of her broader treatment routine to improve her quality of living.

Alfonso said, “Her life revolves around her therapy.” “But, she really enjoys being outdoors and going to the parks. She is a happy child when she sees children.

Lea doesn’t speak, but has developed her own method of communication. Lea uses coloured symbols and colours to express herself using an augmentative communication device.

Her father says, “We understand what she is trying to say.” “But for some people, it’s hard 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 that supports GNB1-related research.

The foundation is a key player in directing funds raised by the Levante Aid Fest to scientists who are working on finding answers.

Alfonso explains that “More and more children are diagnosed with GNB1 every month.” Doctors and researchers learn more every day, but funding remains the greatest barrier.

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While the medical community races against time, Alfonso and Begoña remain steadfast in their mission – juggling parenthood, advocacy, and entrepreneurship. Their daughter is the inspiration behind everything they do.

Despite the everyday challenges of caring for their child with a rare condition, Alfonso and Begoña remain committed to their mission. 

They are determined to live life day by day, and they hold onto their hope. 

Visit the website to find out more about GNB1 or to donate to fund research. the foundation’s website Visit the Instagram page.