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 helping to drive the conversation about ways to reduce the time to diagnosis, the company said.
Angelman Syndrome is a genetic disorder that shares characteristics and symptoms with a number of other disorders, including autism, cerebral palsy and Prader-Willi syndrome. This leads to doctors initially misdiagnosing half of those with Angelman syndrome, the Angelman Syndrome Foundation says.
Misdiagnosis means patients fail to obtain early treatment, leading to worse outcomes.
Shire, Microsoft and Rare Diseases Europe formed the Global Commission to End the Diagnostic Odyssey for Children to bring together patients, parents, patient advocates, healthcare providers, researchers and experts to try to improve the lives of the millions living with rare diseases. A major goal will be to accelerate the multi-year journey that many patients must take to receive a final diagnosis.
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 commission will be led by Flemming Ornskov, Shire’s chief executive officer; Simon Kos, the chief medical officer of Microsoft’s Worldwide Health unit; and Yann Le Cam, the chief executive officer of Rare Diseases Europe.
“We have an opportunity to harness the power of technology to tackle this painful issue that has affected so many,” Kos said in a press release. “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. 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.”
“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. We are excited to begin collaborating with such a distinguished and diverse group of experts, and believe together we can facilitate and accelerate time to diagnosis, helping families around the world.”
The commission will begin its work in 2018. One of its first big projects will be crafting recommendations for closing the early-diagnosis gap. It hopes to publish them in 2019.
In developing the recommendations, the commission will talk with patients, families and patient advocates in addition to disease experts.
The commission also plans to add the discussion and insights that arise during Rare Disease Day to an information bank it will create.
The Angelman Syndrome Foundation says a blood test can detect up to 85 percent of those with the disease. It does this by showing whether their UBE3A gene is functional.
The remaining 15 percent of those with the disease must rely on doctors who are familiar with Angelman to provide a diagnosis. You can find a specialist in your area by contacting the foundation.