Gastrointestinal stromal tumor (GIST) and cholangiocarcinoma are very different types of rare cancers, but they share a crucial trait: few people have ever heard of them.

Even so, about 22% of all cancer cases diagnosed worldwide are considered rare, making them collectively far more common than breast cancer (16% of the total), colorectal cancer (15%), lung cancer (13%), and prostate cancer (12%).

Increasing awareness of the hundreds of rare cancers among health care providers and clinicians was the focus of an October 19, 2021, session titled “Advancing Rare Cancer Awareness and Education Among Healthcare Professionals.” Moderated by Matthew Zachary, founder and CEO of OffScrip Media, it took place on the second day of the 2-day virtual National Organization for Rare Disorders (NORD) Breakthrough Summit 2021.

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“There’s a lot of information to sift through when you enter the ‘I have a rare disease’ store, which no one ever asks to shop in,” said Zachary, a 25-year survivor of brain cancer.

Yet some 80% of all cancer patients are generally seen outside of academic centers, said Stacie Lindsey, founder and CEO of the Cholangiocarcinoma Foundation, based in Salt Lake City, Utah.

“There are hundreds of clinical trials going on right now that a community provider may not be aware of,” she said. “Between what they are doing and what the FDA is approving is an enormous knowledge gap—that is, all the clinical trials,  immunotherapies, targeted trials, and chemo combinations that are happening before we get to FDA approval.”

To that end, Lindsey’s foundation sponsors several initiatives aimed at reaching healthcare providers. This includes a video program titled “Mutations Matter,” as well as a separate biomarkers program, and a very simple educational video that’s tumor-agnostic, so it could be used by any nonprofit rare cancer patient advocacy group.

NORD banner
A banner at a National Organization for Rare Disorders (NORD) Breakthrough Summit. Credit: Larry Luxner

“Another thing we do is a regional symposium,” Lindsey said. “Nobody’s going into medical centers now, but before COVID—and as soon as restrictions are over—we’ll be going back to regional symposiums where patients can meet researchers and vice-versa.”

Carolyn Tordella is assistant director of communications at the Life Raft Group, a nonprofit based in Wayne, New Jersey, that helps people diagnosed with GIST.

“With rare diseases, it’s so difficult to get the information out there. With GIST, it’s even harder because misdiagnosis is par for the course for every patient we deal with,” she said. “The symptoms are so vague that before they even get to a diagnosis, it’s a scary journey. We want to make that easier.”

Yet the foundation has faced big obstacles, Tordella said, because GIST patients aren’t easy to locate.

“There’s no blood test to say, ‘oh, you have GIST.’ Most patients are diagnosed when they’re in the emergency room for excessive bleeding, and many are sent home because they’re thought to have anemia,” she said, noting that it’s crucial for Life Raft Group to educate doctors on the disease.

“We do 6 to 10 webinars each year on specific topics, and these videos are sent out to all our doctors, patients, and caregivers,” Tordella said. “We have a lot of doctors who sign up just to learn as much as they can about GIST. We also collaborate with other researchers and have done peer-reviewed studies, as well as reporting through our publication, LRG Science, about current topics in GIST—and we’ve spent 20 years developing relationships with GIST experts here in the United States and internationally.”

Also participating in the webinar was Rishi Desai, MD, MPH, chief medical officer at Osmosis, and Jim Palma, executive director of the TargetCancer Foundation and a founding co-chair of the NORD Cancer Coalition, a group of 26 rare cancer patient advocacy groups formed in 2017 to create a unified voice to raise awareness about rare cancers.


Advancing rare cancer awareness and education among healthcare professionals. Presented at: NORD Breakthrough Summit 2021: October 19, 2021; Virtual.