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We are a multi-disciplinary group of rare disease advocates, researchers, physicians, and innovators from across the globe with a commitment to shortening the long and arduous diagnostic journey.
A clear path to timely, accurate diagnosis for all children
The barriers to diagnosis are complex and intertwined. Tackling one alone will not maximize the impact to improve patient lives. The Global Commission members recognized that reducing the time to diagnosis was critical in improving the lives of patients and their families. During 2018, a range of physicians, medical researchers, patient advocates, and others were consulted to better understand the diagnostic odyssey, especially the barriers that patients, their families, and their healthcare providers face along their journey to diagnosis.
The diagnostic odyssey is a succession of steps, starting from the onset of symptoms to diagnosis of the disease. The average length of time from symptom onset to an accurate diagnosis of a rare disease is about 5 years or longer. Rare diseases often go undiagnosed because patients, families, and physicians have limited awareness of the disease and rare disease symptoms may not always be evident to healthcare providers who have never encountered the disease. Symptoms are often hidden behind more common illnesses and initially may appear to be of only minor concern. Delays in diagnosis can lead to inappropriate disease management as well as disease progression, and a misdiagnosis can lead to additional interventions later deemed to be inappropriate given the underlying disorder.
All rare diseases. Although there is a broad diversity of diseases that come with a wide range of symptoms, barriers to diagnosis are often similar. Solutions this Commission is focused on will have the potential to improve diagnosis time for all rare diseases.
By focusing on children, the Global Commission can impact a large segment of the rare disease community. Additionally. although the Commission is focused on children the findings of the Commission may have applications for all rare disease patients, and. potentially, the medical field at large.
Moving forward, we will be developing additional case studies as part of a resource compendium. Please contact us with your recommendations of examples to potentially turn into case studies as well as other tools for diagnosis that could be useful for the rare disease community.
The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease is an association composed of a diverse group of organizations and individuals committed to shortening the time for an accurate diagnosis for all children with rare diseases. The views expressed herein are solely those of the Commission and do not represent any individual, co-chair, or member organization’s views or opinions.
