Overview
- An estimated 300–350 million people worldwide live with a rare disease, with national tallies including roughly 3 million in Spain, 8–10 million in Mexico, and 3.2–3.6 million in Argentina.
- Diagnostic delays remain severe: WHO cites waits up to 10 years, Spain averages more than 6 years with a quarter exceeding 10, and Mexico’s registry reports a median 8 years with some cases taking decades.
- The WHO’s first resolution on rare diseases urges countries to fold these conditions into health planning, while Mexico’s adoption of ICD‑11 recognizes over 5,500 rare diseases and Cofepris lists 96 orphan drugs.
- Only about 5–10% of rare diseases have approved treatments, though research momentum includes gene therapies, targeted drugs such as vosoritide for achondroplasia, and plasma‑based approaches like immunoglobulins for select disorders.
- Costs and access gaps persist in Europe, where Spain financed 20 orphan drugs in 2025 yet averages 23 months to fund them, as advocacy and local actions continue today with free screening in Cusco and awareness efforts in Argentina’s Santa Fe.