In the third year of the observance, attention is focused on strengthening research and access to specialized healthcare services for patients living with this condition.
By María Elisa Terrón, Ph. D.
Professor at the School of Health and Sciences
Today, May 15, Puerto Rico observes Ehlers-Danlos Syndromes (EDS) Awareness Day, a date established through Act No. 6-2024 with the purpose of educating, raising awareness, and increasing visibility around this genetic condition and its significant impact on the quality of life of those affected.
Ehlers-Danlos Syndromes are a group of disorders, usually genetic in nature, that primarily affect the skin, joints, and blood vessels. Among the most common manifestations are joint hypermobility, chronic pain, tissue fragility, and various systemic complications that, in many cases, complicate or delay diagnosis.
In Puerto Rico, increasing visibility for this and other conditions remains a significant challenge for the healthcare system. Currently, there are no official figures regarding the number of people diagnosed in the archipelago, highlighting a gap in epidemiological data collection and clinical research.
This reality exists within a context in which Puerto Rico has an approximate population of 3.2 million residents and a limited number of clinical genetics specialists, estimated at around four medical geneticists. This directly affects access to specialized evaluations, early diagnoses, and appropriate treatment.
This observance exists at the intersection of science, medicine, and public policy, while also promoting spaces for reflection within the academic community, including the School of Health and Sciences (ESYC, per its Spanish acronym) at Universidad del Sagrado Corazón, which continues to strengthen its commitment to health education and interdisciplinary research.
At ESYC, Professor María Elisa Terrón incorporates examples related to Ehlers-Danlos Syndromes and other genetic conditions into her biology courses to address concepts of structure and function across different biological levels. Through this approach, she promotes awareness within the academic setting with the goal of opening future opportunities for service initiatives, collaboration with affected communities, and potential research projects related to genetic diseases in Puerto Rico.
“When a need remains unknown or lacks visibility, it becomes more difficult to mobilize resources, research, and conversations in that direction,” Terrón emphasized.
Three years after the creation of the official observance, the main call to action remains strengthening the visibility of Ehlers-Danlos Syndromes, promoting scientific research, and improving access to specialized healthcare services. Beyond awareness efforts, the focus is on addressing the structural gaps affecting patients and families living with this condition in Puerto Rico.