Huntington’s disease (HD) is a devastating neurodegenerative disorder that deeply impacts individuals and their families, especially in certain regions of Latin America. On Colombia’s Caribbean coast—particularly near the city of Barranquilla—lives one of the world’s largest family clusters affected by the disease. This high prevalence is attributed to factors such as geographic isolation and limited access to education and healthcare services.

Families facing HD in this region often live in extreme poverty, without access to essential resources such as clean water, sufficient food, adequate housing, and basic health services. The hereditary nature of the disease, combined with its debilitating symptoms, exposes these families to social stigma and isolation. A qualitative study highlighted the profound emotional, physical, and social transformations experienced by caregivers of people with HD in Colombia’s Caribbean region.

On the research front, several pharmaceutical companies are developing potential treatments. Novartis has signed a global licensing agreement with PTC Therapeutics to develop PTC518, an oral therapy that shows promise as a disease-modifying treatment. Similarly, Roche is conducting clinical trials—such as the GENERATION HD2 study—to evaluate the safety and efficacy of new therapeutic approaches.

Despite these advances, major disparities in access to healthcare persist. The limited availability of molecular testing and neurology specialists in Latin America contributes to the underdiagnosis of Huntington’s disease, underscoring the urgent need to improve healthcare infrastructure and resources in these regions.

Through the stories of four families from Colombia’s Caribbean coast, this report seeks to shed light on the enormous challenges posed by Huntington’s disease. By giving voice to their experiences, we aim to raise awareness and advocate for greater support, access to healthcare services, and investment in research to ease the burden this disease places on deeply vulnerable communities.