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Letter from the co-chairs

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Parents know when something is wrong with their child. But when it comes to a child with a rare disease, the search for an answer can turn into an odyssey. Today, it can take an average of five years to get an accurate diagnosis, even in countries with sophisticated health systems. Too many families around the world bounce between physicians and specialists only to receive multiple misdiagnoses. The consequences can be devastating: delays in treatment that could save a child’s life or, when there is no treatment or cure, robbing families of peace of mind and the ability to plan for their child’s future. These challenges are affecting patients, their families, and the many healthcare professionals entrusted with patients’ care and wellbeing.

In 2018, Shire (now Takeda), Microsoft, and EURORDIS-Rare Diseases Europe joined forces to launch the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. The Global Commission is a multidisciplinary group of experts from around the world who have brought their creativity, technological expertise, and passion to accelerate the time to diagnosis.

We believe that technology provides an unheralded opportunity to help overcome the barrier of “rare” and the unfortunate fact that today, “rare” often equals “off the radar.” Many of our recommendations address distinct challenges within rare disease that technology is uniquely equipped to solve. We have launched ambitious pilot projects to explore what’s possible – using tools such as blockchain and facial recognition - and outlined policy recommendations to ensure patient privacy is protected while encouraging the sharing of data for analysis and decision making.

The Global Commission has developed a roadmap – actionable recommendations – to help end the multi-year diagnostic odyssey for a child with a rare disease.

Our goal is to inspire concerted action and mobilize diverse actors – within and outside the health field – to work collaboratively toward a shared ambition.

As champions for people living with a rare disease, we hope you will join us in advocating for families to receive life altering information as quickly as possible, transforming the lives of millions of children and their families around the world.

Sincerely,

Signuatures of Commission Co-Chairs
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