The journey to diagnosis is a long and often confusing experience for Persons Living with a Rare Disease (PLWRD) and their loved ones.
the challenge of Diagnosis
In countries with relatively well-resourced health systems, it can take over five years to reach the correct diagnosis, and for many PLWRD around the world, an adequate diagnosis is never reached.
With over 6 000 rare diseases identified, recognizing a patient with a rare disease can be particularly challenging.
Insufficient screening programmes, including newborn screening, and unequal access to diagnostic services, infrastructure, and expertise contribute to delayed diagnosis.
Furthermore, a condition that is nameless and misunderstood is invisible to society. For the community of Persons Living with a Rare Disease, diagnosis gives greater visibility and facilitates social inclusion
- Rare Disease International – “International Joint Recommendations to Address Specific Needs Of Undiagnosed Rare Disease Patients”. 2016
- Global Commission – “Year One Report”. 2019
- Taruscio D et al. – “Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs”, Molecular Genetics and Metabolism. 2015