The Central American and Caribbean Federation of Pharmaceutical Laboratories (Fedefarma) urged governments, health systems, and the private sector to unite efforts to overcome barriers in the diagnosis and treatment of rare diseases. With over 7,000 known conditions, rare diseases affect 300 million people, facing critical challenges such as diagnoses that can take up to 10 years. According to experts consulted by Fedefarma, 80% of these conditions are of genetic origin, and patients often wait between 2 and 10 years to receive a definitive diagnosis. Tatiana Villegas, medical director of ethics and compliance at Ferrer, explained in the third person that this delay causes patients to transit through the health system for years without specialized studies such as genetic tests or MRIs, often receiving treatment when the disease is already in very advanced stages. Carmen Da Silva, Fedefarma's director for the Dominican Republic and Panama cluster, stressed the need for public budgets to incorporate innovative financing mechanisms. Jorge Luis Ortiz Corzo, from AstraZeneca, mentioned that the sector facilitates free diagnostic platforms for physicians who lack local tools. In the context of the recent priority given by the World Health Organization (WHO) to these pathologies, the federation highlights the lack of data and delayed diagnoses seriously compromise patients' quality of life. Currently, it is estimated that there are more than 7,000 rare diseases affecting 300 million people worldwide, 70% of which begin in childhood. Among the conditions recorded in Central America and the Caribbean are Paroxysmal Nocturnal Hemoglobinuria (PNH), Pulmonary Arterial Hypertension (PAH), Myasthenia Gravis, Neurofibromatosis Type 1, and Atypical Hemolytic Uremic Syndrome. Each of these pathologies presents complex symptoms ranging from chronic fatigue and breathing difficulties to damage to vital organs like the kidneys and heart, requiring multidisciplinary and specialized management. Da Silva proposed the implementation of Managed Entry Agreements (MEAs).
