Challenges Faced in Managing Rare Diseases

Jakarta — Internal medicine specialists have highlighted that the primary challenges facing rare disease management in Indonesia include diagnostic complexity and low clinical awareness.

Dr Dina Nilasari, Ph.D, Sp.PD, K-GH and Dr Hayatun Nufus, Sp.PD, K-HOM, FINASIM conveyed this during a press conference in Jakarta on Friday.

According to Dr Hayatun, awareness and early diagnosis are critical factors in managing rapidly progressing rare diseases such as Atypical Hemolytic Uremic Syndrome (aHUS) and Paroxysmal Nocturnal Hemoglobinuria (PNH).

Corroborating Dr Dina and Dr Hayatun’s position, Dr Feddy, Medical Director of AstraZeneca Indonesia, stated that diagnostic delays and limited understanding frequently present obstacles in rare disease management. He noted that according to World Health Organisation data, rare diseases affect fewer than one in two thousand people in any given region.

Globally, it is estimated that there are more than seven thousand types of rare diseases, with approximately 80 per cent attributed to genetic factors and nearly 70 per cent first appearing in childhood. WHO data further indicates that approximately 30 per cent of children with rare diseases die before reaching age five.

The prolonged diagnostic process represents a significant challenge in rare disease management. Patients require an average of approximately 4.8 years to obtain an accurate diagnosis of their rare condition.

Enhanced understanding of rare diseases and heightened awareness are considered essential to bolster management efforts. Collaborative efforts to improve education on rare diseases are being undertaken to commemorate Rare Disease Day 2026 on 28 February.

Dr Feddy described aHUS, which falls within the thrombotic microangiopathy (TMA) group, as a condition involving damage to small blood vessels caused by uncontrolled activation of the complement system—part of the immune system. This leads to small blood vessel obstruction that disrupts blood flow to various organs and can affect individuals regardless of gender or age.

Another noteworthy rare disease is Paroxysmal Nocturnal Hemoglobinuria, a rare blood disorder resulting from mutation in blood-forming cells. This mutation causes blood cells to lose protective surface proteins, rendering them vulnerable to immune system destruction. Consequently, patients experience continuous destruction of red blood cells and often require repeated blood transfusions to replace damaged cells.