An estimated 10,000 rare diseases affect nearly 473 million people worldwide, yet timely diagnosis remains one of the greatest challenges in clinical practice. Patients may remain undiagnosed either due to lack of referral to appropriate specialists or because their conditions are yet to be fully characterized, with no definitive diagnostic tests available. The diagnostic odyssey For people living with rare diseases (PLWRD), an accurate and timely diagnosis is often the decisive factor between effective care and years of clinical uncertainty.
Delayed recognition frequently leads to a prolonged “diagnostic odyssey,” marked by multiple consultations, repeated investigations, misdiagnoses, and sometimes inappropriate treatments or surgeries. Even for known rare diseases, the diagnostic odyssey often spans 4–9 years, reflecting missed early clinical clues and fragmented care pathways.…
