In Quito, experts from various fields convened to address the significant challenges posed by rare diseases, of which Ecuador reports over 400. These conditions often evade timely diagnosis, with only four being detectable in the neonatal period. Globally, between 5,000 to 8,000 rare diseases remain undiagnosed, highlighting a critical gap in medical understanding and response to increasingly diverse patient symptoms.

The gathering took place at the Universidad de las Américas (UDLA), which served as a platform for medical professionals to debate how to improve quality of life for patients afflicted with these rare conditions. The conference elicited discussions on the importance of early recognition of rare diseases, which can greatly enhance treatment outcomes and patient survivability. Initiatives and strategies for better medical education regarding these diseases were central to the dialogue among participating specialists.

A notable contribution came from the Harriet Joyce Foundation, based in the United States, represented by Jeffery Himmel, who shared personal insights about his granddaughter's battle with a severe genetic metabolic disorder. He emphasized the necessity for health systems to prioritize awareness and improve diagnostic processes, underscoring the life-altering potential that early detection can have for individuals facing rare diseases. The collective vision from this forum was a call to action for refining existing practices to ensure better health outcomes for affected individuals in Ecuador and beyond.