(MENAFN- Costa Rica News) The post Uncertainty, Late Diagnoses, and Lack of Treatment: The Reality of Those Facing Batten Disease in Costa Rica appeared first on The Costa Rica News.

Batten disease is one of the most devastating and least-known childhood neurodegenerative conditions in the world. Although it is classified as a rare disease, it represents an urgent reality for many families in Costa Rica.

Batten disease is a genetic disorder that affects the nervous system and usually manifests in childhood. It is progressive, has no cure, and causes the deterioration of essential functions such as speech, mobility, vision, and cognitive abilities.

Over time, people with Batten disease lose autonomy and require constant care. Internationally, it is estimated to affect between two and four children per 100,000 births, according to the Batten Disease Support and Research Association (BDSRA).

In Costa Rica, the situation is particularly delicate. The CLN6 variant is the most common form of this disease in Costa Rica, placing the country among those with the highest number of diagnoses of this variant worldwide.

A study conducted on cases treated at the National Children's Hospital revealed that eight out of nine children tested for Batten disease had the CLN6 genetic alteration. Symptoms usually appear around the age of four, with motor, visual, and cognitive impairments.

The Founding of the Batten Foundation in Costa Rica

The lack of knowledge about the disease among healthcare professionals leads to misdiagnoses and delays access to therapies, guidance, and support. This leaves families feeling deeply isolated and distressed, as they cannot find timely answers or support within the healthcare system.

Angélica López, president of the Batten Foundation Costa Rica, emphasizes the importance of having informed help:

For us, as families, one of the most important things when seeking medical help is the peace of mind that the professional treating us knows what we are experiencing and what is happening to our children.

In this context, the Batten Foundation Costa Rica was born, led by Angélica López, mother of Martín, who was diagnosed with Batten disease at age four after a long search. Her personal experience transformed into a collective cause that today promotes support, awareness, and links with medical and scientific institutions, especially in the United States.

Angélica adds:

The uncertainty we faced at the beginning was overwhelming. We spent more than a year searching for answers without knowing what was happening to our son. The hardest part was feeling alone in that process. That's why today we work to ensure that no family has to go through this without guidance or support. We want every medical center in the country to know what Batten disease is and how to properly support families.

Thanks to its leadership, the Foundation has established a network of families and professionals who promote access to reliable information, emotional support, and awareness-raising in educational and healthcare centers about the specific needs of these children.

The post Uncertainty, Late Diagnoses, and Lack of Treatment: The Reality of Those Facing Batten Disease in Costa Rica appeared first on The Costa Rica News.

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