Global Commission

to End the Diagnostic Odyssey for Children with a Rare Disease

For a child with a rare
disease, an accurate
and timely diagnosis
can be the key to a
longer, healthier life

WHO WE ARE

We are a multi-disciplinary group of experts with the creativity,
technological expertise and commitment required to make a major
difference in the lives of millions of children and their families. We will be
developing an actionable roadmap to guide the rare disease field in
shortening the multi-year journey that patients endure to receive an
accurate diagnosis, which can be the key to a longer, healthier life.

We are a multi-disciplinary group of experts
with the creativity, technological expertise
and commitment required to make a major
difference in the lives of millions of children
and their families. We will be developing an
actionable roadmap to guide the rare
disease field in shortening the multi-year
journey that patients endure to receive an
accurate diagnosis, which can be the key to
a longer, healthier life.

FREQUENTLY ASKED QUESTIONS

What is a rare disease?

Rare diseases are diseases that affect a small number of people compared to the general population. For example, in the European Union a disease is considered rare if it affects fewer than 250,000 people; in the United States, it is fewer than 200,000 people; and in Japan, it is fewer than 50,000. Most rare diseases are genetic, and are present throughout a person's entire life, even if symptoms do not appear immediately. There are approximately 6,000 different types of rare diseases and disorders, with more being discovered.

Rare diseases are diseases that affect a small number of people compared to the general population. For example, in the European Union a disease is considered rare if it affects fewer than 250,000 people; in the United States, it is fewer than 200,000 people; and in Japan, it is fewer than 50,000. Most rare diseases are genetic, and are present throughout a person's entire life, even if symptoms do not appear immediately. There are approximately 6,000 different types of rare diseases and disorders, with more being discovered.

Why was the Global Commission formed?

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. Over the past several months 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.

What is the “diagnostic odyssey?”

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 4.8 years. 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.

What type of rare diseases will the Global Commission focus on?

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 the Global Commission is focused on will have the potential to improve diagnosis time for all rare diseases.

Why focus on children, and not older people?

By focusing on children, the Global Commission can impact a large segment of the rare disease community and prevent early in life deaths. Additionally, although the Global Commission is focused on children, the findings of the Global Commission may have applications for all rare disease patients and the medical field at large.

What impact does the Commission want to have?

The Global Commission is developing an actionable roadmap to help establish priorities for the rare disease field to get us closer to our goal of faster and more accurate diagnoses for children. The Global Commission members are committed to continuing to champion the issue of shortening the diagnostic journey and to encourage the rare disease community to act on the Global Commission’s recommendations.

When will the Global Commission’s work be completed?

The Global Commission began its work in early 2018, and in early 2019 it will publish a report that will help set the rare disease field’s priorities for speeding diagnosis and provide actionable recommendations to get us there.