In Brazil, individuals diagnosed with rare diseases face daunting challenges in obtaining accurate diagnoses, often spanning years of uncertainty and delaying necessary treatments that could improve their quality of life. Andréa Maria Amarante de Oliveira, president of the Brazilian Myasthenia Association, shared her personal journey, which took 15 years before she was finally diagnosed with generalized myasthenia gravis, an autoimmune neuromuscular disorder that disrupts communication between nerves and muscles. This long delay illustrates a broader problem affecting many patients in Brazil who suffer from conditions that are difficult to diagnose due to their nonspecific symptoms.

Experts and patients gathered at the seminar "Rare Diseases: Diagnosis, Access, and Innovation in Care", organized by Folha and sponsored by Johnson & Johnson, highlighted several factors contributing to these delays. They pointed out the nonspecific nature of the symptoms associated with rare diseases, as well as significant regional disparities in access to genetic testing and specialized care centers. Furthermore, they emphasized the inadequate training of primary care health professionals, who often lack the knowledge or resources needed to recognize and manage these complex conditions effectively.

The implications of these diagnostic delays are profound, as they not only prolong suffering for patients but also impede the timely initiation of treatments that could slow disease progression and enhance daily living. As Brazil continues to grapple with the challenges of healthcare access and quality, addressing these systemic issues will be essential in improving outcomes for individuals with rare diseases. With organizations like the Brazilian Myasthenia Association advocating for better resources and training, there is hope for progress in making timely diagnoses a reality for many patients in the future.