Rare diseases outside large urban centers: inequalities revealed

Patients with rare diseases who live outside large urban centers face obstacles that go beyond their own health condition. Medical geneticist Isabela Dorneles Pasa, from the Santa Maria University Hospital, explains that inequality in the distribution of resources and specialists directly impacts the diagnosis and treatment of these patients.

According to the expert, the journey is usually marked by uncertainty. “Patients living with a rare disease in the interior face structural barriers that make everything from diagnosis to treatment difficult,” he states. She highlights that many professionals' lack of familiarity with these conditions can prolong the search for answers. “It is common for patients to hear that the professional does not feel able to help because they do not know the disease, which creates frustration and delays in properly managing the case”, he explains.

EXAMS - The difficulty in accessing exams also worsens the scenario. Even relatively common procedures, such as MRI, can be scarce in smaller municipalities. In metabolic diseases, the situation is even more critical. "Some conditions require rapid diagnosis using specific biochemical tests that are often not available outside reference centers. Delays can lead to serious consequences or even risk of death", he explains.

TECHNOLOGY - Despite the challenges, technological advances have helped to reduce the distance between patients and diagnosis. The expansion of access to genetic tests, with material collection using saliva or dried blood sent by post, has increased the identification rate of these diseases. However, treatment still depends on a multidisciplinary network that often does not exist in the interior. “Speech therapy, physiotherapy and occupational therapy are pillars of treatment, but they require frequent and prolonged monitoring, something difficult in smaller cities”, he highlights.

GENETICISTS - For Isabela, the presence of geneticists outside the capitals can transform this reality. “Taking geneticists to the interior strengthens the entire health network, as genetics is a specialty that interacts with different areas and expands the diagnostic capacity of local teams”, he says. 

Among the strategies to improve access, she defends the creation of integrated networks between basic units and reference centers, in addition to the use of telemedicine. “Telemedicine brings specialists closer to local teams and helps in monitoring patients, but it does not completely replace in-person assessment”, he notes.

The doctor reinforces that early diagnosis benefits both the patient and the healthcare system. “When carried out early, genetic testing directs treatment and reduces unnecessary tests and therapies, making care more efficient”, he highlights. 

For families, the message is one of welcome and collective mobilization. "You are not alone. When families organize themselves and work together with professionals, they are able to give visibility to their needs and drive real changes in the health system", he concludes.