Children’s National Health System has announced that Marshall Summar, M.D., director of the Children’s National Rare Disease Institute (CNRDI), has been named to the Global Commission to End the Diagnostic Odyssey for Children (“the Global Commission”), an alliance dedicated to shortening the multi-year journey that rare disease patients and families endure on the road to diagnosis.
Established in partnership with Shire, Microsoft and EURORDIS, the Global Commission is comprised of a multi-disciplinary team of global experts that have the commitment, creativity and technological expertise required to make a substantial difference in the lives of the millions of children living with a rare disorder.
“Providing more help to children born with rare genetic diseases continues to be one of the core challenges of 21st century medicine,” says Dr. Summar, who notes that patients typically visit up to eight doctors and often receive two or three misdiagnoses along the way. “Even upon diagnosis, patients are hindered by scarce treatment options and approximately a third of patients die before their fifth birthday. We are committed to changing this trend at the CNRDI and are excited to have the opportunity to share our expertise with this alliance on a global stage.”
The Global Commission is focused on developing an actionable roadmap for the field of rare disease that offers recommendations to address core challenges that prevent timely diagnosis for rare disease patients, including improving physicians’ ability to identify and diagnose rare disorders, empowering patients to take an active role in their healthcare and providing high-level policy guidance to help rare disease patients achieve better health outcomes.
Beginning its work in 2018, the Global Commission expects to publish a roadmap that encapsulates the collective findings in early 2019. Over the course of the next year, the alliance will gather input from patients, families and other experts to gain key insights and develop solutions to shorten the diagnostic odyssey.
In the United States, it is estimated that one in 10 people has a rare disease – approximately 80 percent of which are genetically based. Additionally, the National Institutes of Health reports that more than 80 percent are childhood diseases and more than 25 percent of children admitted to pediatric hospitals have a rare disease.