Colombia confronts diagnostic and treatment gaps for orphan diseases

Colombia officially recognises about 1,920 orphan (rare) diseases, with roughly 110,000 people registered as living with one of these conditions, though experts say the true number may be higher. Patients often endure long diagnostic journeys because symptoms overlap with more common illnesses, leading to multiple medical consultations before a definitive diagnosis is made.

The lack of curative treatments for many of these diseases, combined with limited access to specialised tests and specialists, creates significant physical, emotional, familial and economic burdens. Although Colombian legislation designates orphan diseases as a public‑health priority, patient groups and specialists argue that barriers remain in achieving comprehensive care. Key challenges identified include accelerating early diagnosis, expanding availability of specialised testing, improving access to treatments and boosting scientific research on these rare conditions.