The Rare Diseases Unit at the Hospital de Especialidades Portoviejo marked its first year of operation, coinciding with World Rare Disease Day on February 28, 2025. The event brought together patients, families, specialists, and provincial authorities to highlight the importance of coordinated work in guaranteeing healthcare rights for people affected by rare diseases.
Dolores Loor, a neurology specialist and head of the unit, said that this service is “a firm step in consolidating specialized and patient-centered care,” reaffirming the institution’s commitment to comprehensive and humane approaches.
The anniversary included academic lectures, patient testimonies, and forums to discuss experiences, medical advances, and ongoing challenges in diagnosing and treating rare conditions. Recreational activities such as painting contests were also organized to promote family integration and emotional support.
Unlike high-demand hospital services, the unit sees fewer patients due to the low prevalence of these conditions. Each case requires detailed diagnosis and individualized monitoring.
Dalila Muñoz, medical director of assistance services, explained that success is measured not by numbers but by precision and multidisciplinary support. The unit currently provides continuous follow-up in areas including neurology, internal medicine, genetics, psychology, and nutrition. It serves 74 patients with Myasthenia Gravis through quarterly consultations; 102 patients with refractory epilepsy under advanced control protocols; 203 patients with movement disorders—the largest group monitored; 30 children with hemophilia receiving specialized pediatric care; as well as specific groups diagnosed with multiple sclerosis (14), neuromyelitis optica (14), and muscular dystrophy (16).
“Our priority is the quality of timely treatment. Because these are low-prevalence diseases, each patient requires coordinated effort from multiple specialists to ensure their quality of life,” Muñoz said. She noted that the unit also supports cases involving autism and Parkinson’s disease.
Silvia Rezabala, a hospital user living with her condition for eight years stated: “I have faced my illness for eight years, and the human and professional quality of this team has been fundamental. Their dedication gives us strength to keep going.”
After one year in operation, the Rare Diseases Unit represents a milestone in Ecuador’s public health system. It renews hope for many families while reaffirming the Ministry of Public Health’s commitment to working responsibly for community benefit.
