Meanwhile, Shire said it is holding or taking part in 40 events on Rare Disease Day (Feb. 28) to raise awareness about these disorders’ global prevalence and impact. A key goal will be furthering the conversation about ways to reduce the time to diagnosis, the company said in a press release.
On average, it takes five years for a rare disease patient, most of whom are children, to become correctly diagnosed. Such a delay in diagnosis has devastating effects on the health, well-being and clinical outcomes of rare disease patients and their families.
Sanfilippo syndrome, a rare mucopolysaccharidosis that becomes apparent in childhood, can take years to diagnose even in countries with top healthcare systems, such as Holland.
According to The Cure Sanfilippo Foundation, signs of the condition often are identified only from ages 2 to 6, when parents notice their child is missing developmental milestones.
Sanfilippo diagnosis also is made more difficult because of misleading symptoms that may be attributed to other conditions such as attention deficit hyperactivity or autism, and because most medical practitioners are unfamiliar with the rare condition.
More dramatic situations can happen when parents whose child has not been diagnosed correctly have other children born in the meantime, only to find their younger children are affected with the disease, too.
Now, Shire, Microsoft and EURORDIS-Rare Diseases Europe have formed the The Global Commission to End the Diagnostic Odyssey for Children to bring together a multi-disciplinary team to develop a roadmap for shortening the journey to diagnosis for rare diseases.
Commission members want to come up with recommendations for bridging the gaps that prevent timely diagnosis of rare diseases.
One of the gaps is many physicians lacking the resources and training to identify particular rare diseases. Another gap is the need for guidelines that can help medical professionals achieve better outcomes for these patients. An additional challenge is helping patients play a more active role in their care.
The companies also plan to bring together technology innovators, patient advocates, healthcare providers, researchers, family members and other experts worldwide.
The commission will be led by Flemming Ornskov, Shire’s CEO; Simon Kos, MD, chief medical officer of Microsoft’s Worldwide Health unit; and Yann Le Cam, CEO of Rare Diseases Europe.
“We have an opportunity to harness the power of technology to tackle this painful issue that has affected so many. We’re seeking innovative ways to integrate emerging technologies into our efforts, which will play a critical role as we strive to impact the diagnosis journey,” Kos said in a press release. “Microsoft is committed to this mission and I believe the Global Commission’s wide range of expertise, along with the infusion of technology, will change the state of rare disease diagnosis.” he added.
“Today, many children around the world are living with a rare disease that remains either undiagnosed or misdiagnosed,” Le Cam said. “This can delay proper care and treatment and cause isolation, discrimination, social exclusion, and also contributes to a waste in human resources.”
The commission will begin its work this year. One of its first projects will be crafting recommendations for closing the early-diagnosis gap. It hopes to publish them in 2019.
The commission also plans to add the discussion and insights that arise during Rare Disease Day to an information bank it will create.