Rabin Martin

The 28^th of February marked Rare Disease Day—a global event where hundreds of patient organizations work to raise awareness of rare disease. While, by definition, an individual rare disease affects a small number of people, when taken together, it is estimated that rare diseases affect 300-350 million people worldwide and almost 30 million in the United States.[1] [2]

About half of all rare diseases begin in childhood and many patients endure lifelong suffering. For a child living with a rare disease, an accurate and timely diagnosis can be the key to a longer, healthier life. However, it currently takes an average of five years before a rare disease patient receives the correct diagnosis.[3]

Last week, we were excited to participate in the New York launch of recommendations by the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease, a strategic alliance co-chaired by Takeda, Microsoft, and EURORDIS-Rare Diseases Europe, to overcome the barriers to diagnosis for patients living with a rare disease.

Launch of the report in New York. A simultaneous event was also held in Brussels. Front Row: Kate Hardin, Kim Morgan, Dawn Irish, Uzma Atif, Anne O’Donnell-Luria, Kym Boycott, Pamela K. Gavin, Maria Schneider, Xiaowei Jin, Durhane Wong-Rieger, Simon Kos, Linn Parrish Back Row: Andrea Caron, Clifford Goldsmith, Deralynn Hughes, Marshall Summar, Wolfram Nothaft, Yann Le Cam, Mike Porath, Mladen Bozic

 “The Global Commission is the first time that EURORDIS, a patient organization, has worked with private actors in this capacity…it was a first, it was a risk, but we have no regrets.  This premier for us was a success.” — Yann Le Camm, EURORDIS

After identifying major barriers to diagnosis and witnessing a real need for innovation — especially in the realm of technology, Rabin Martin spent the past year supporting Shire (now Takeda) in bringing together a multi-disciplinary group of experts to tackle this challenge. The Global Commission was charged with thinking of ways the field could harness technology to get to an accurate diagnosis faster and better support families and caregivers as well as frontline health providers and geneticists. The Global Commission published its recommendations in a year one report which is intended to serve as a roadmap. In addition, the Global Commission is currently piloting three proof-of-concept projects to test several of the proposed solutions. At the heart of each recommendation and pilot project is the use of advanced technologies such as artificial intelligence and blockchain, as well as an understanding of how to empower patients and their families on the diagnostic journey.

We hope efforts of multi-disciplinary collaborations – such as that of the Global Commission – and continued technological innovations will inspire and mobilize diverse actors, from within and outside the health field, to work together in order to improve the lives of millions of children and adults living with a rare disease.

Additional Resources:

• Check out The Mighty, a digital health community created by Global Commission member Mike Porath that is working to empower and connect people facing health challenges and disabilities.
• Want to learn more about the Global Commission? Please visit https://globalrarediseasecommission.com/report.

[1] https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases

[2] https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf

[3] https://www.eurordis.org/content/undiagnosed-rare-diseases