A recent study reveals that Brazilians with rare diseases wait an average of 5.4 years for a definitive diagnosis, with significant implications for their health and access to treatment.
The World Rare Disease Day, celebrated on February 29, highlights the challenges faced by those with rare conditions. A new study conducted among over 12,000 Brazilians reveals that individuals suffering from these diseases endure an average wait of 5.4 years before achieving a definitive diagnosis. This research, published in the Orphanet Journal of Rare Diseases, indicates that nearly one in five patients in specialized centers remains without a confirmed diagnosis, showcasing a major gap in healthcare delivery for rare diseases in Brazil.
This national analysis, the first of its kind, was executed by the Brazilian Network of Rare Diseases (RARAS), incorporating data from 34 public health services collected between 2018 and 2019. The findings underline the urgent need for improved diagnostic processes and greater awareness of rare diseases among medical professionals. With extended wait times for a diagnosis, patients may experience deteriorating health and limited access to appropriate treatments, leading to increased morbidity.
In response to these challenges, the Brazilian Ministry of Health has announced plans to enhance the support for rare diseases in the country. This announcement comes at a critical time, as it reflects an acknowledgment of the systemic issues within the healthcare system and the necessity for reforms. As Brazil recognizes World Rare Disease Day, it serves as a call to action for policymakers to address the inadequacies highlighted by the study, ultimately aiming to reduce the diagnosis wait time and improve care for affected individuals.
