Rare Disease Report

Shire Advocates for Accurate, Timely Diagnosis of Patients on Rare Disease Day

FEBRUARY 27, 2018
Kaitlynn Ely
On World Rare Disease Day, Shire plc will be advocating for rare disease patients and continuing its global efforts for education and awareness by hosting events at more than 40 locations worldwide.

This year, the biotech will focus on promoting prompt diagnosis of rare diseases, as it is the most important issue affecting health, longevity and well-being for patients and their families. Approximately 40% of rare disease patients are misdiagnosed at least once, while some must wait over 5 years before an accurate diagnosis is given.

Shire announced early last week that it will take on a role with the newly-established Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. The company has also teamed up with Microsoft and EURODIS-Rare Diseases Europe to discover innovative ways to speed up diagnosis among rare disease patients.

Last week, Shire announced that it has formed a strategic alliance with Microsoft and the European patient organization EURORDIS with the intent to accelerate the time it takes for pediatric rare disease patients to receive the correct diagnosis. Experts from patient advocacy groups, academic/research institutions, hospital and health systems, policy organizations, and technology and biotechnology companies are partnering with this newly-formed Global Commission to develop a better system in accelerating time to diagnosis.  

Shire is represented in the Global Commission by its chief executive officer Flemming Ornskov, M.D., M.P.H., who serves as a co-chair alongside Simon Kos, M.D., Chief Medical Officer and Senior Director, Worldwide Health, Microsoft; and Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe. The group expects initial findings to be published in 2019.

During their World Rare Disease Day sponsored-events, Shire has continued to advocate for swift diagnoses by driving the conversation through activities and partnership. Discussions and valuable contributions offered by stakeholders, patients, and their families will assist the Global Commission’s work and offer valuable contributions.

Around 350 million people, or 1 in 20 people, live with a rare disease worldwide. As a way to represent this statistic, Shire has created Rare Count, a program that uses the “1 in 20” statistic to calculate how many people a person is connected with on social media that are living with a rare disease.

"As the global leader in rare diseases, we, at Shire, uniquely understand the challenging journey rare disease patients and their families face every day," said Flemming Ornskov, M.D., M.P.H., Chief Executive Officer in a press release. "We decided to focus this year's Rare Disease Day efforts on diagnosis because an accurate and timely diagnosis can be the key to a longer, healthier life - especially for a child with a rare disease."

For more on how people within the community are observing World Rare Disease Day, follow Rare Disease Report on Facebook and Twitter.
 

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.