Doctors were once advised, “when you hear hoofbeats, think horses, not zebras.” The vivid analogy urges medical professionals to assume the most likely explanation for a patient’s condition is the correct one, dismissing less likely scenarios.
But the adage, attributed to Dr. Theodore Woodward, turned out to be short-sighted now that we know there are an estimated 7,000 rare diseases affecting 300 million people worldwide. That’s a lot of zebras. But with so much for a med student to learn before they graduate, how can they develop at least a framework for understanding rare diseases?
Here are a few programs that are working to build that awareness in young doctors:
The RARE Compassion Program
The patient advocacy group Global Genes launched its RARE Compassion Program in 2014 to introduce medical students to rare disease patients and their families – and to give patients a chance to advocate for the rare disease cause. Participants meet one-on-one with patients and caregivers. They also network with established professionals who care for rare disease patients; get a chance to attend Global Genes events; and are eligible to apply for a scholarship.
“The program offers students a chance to build compassion, understanding, and empathetic communication skills, and gain interest in specializing in fields most relevant to rare disease,” according to the program’s website.
For more than 10 years, the founders of Medics4RareDiseases have been offering supplemental rare disease education for med students and young doctors. Based outside of London, the organization offers an online course called Rare Diseases 101 and encourages medical students to #DareToThinkRare.
Medics 4 Rare Diseases advocates for including rare diseases training in medical curricula and recently announced it’s partnering with Medscape on a short film. Medscape, a global provider of medical education, says the film is one of a series that will be released on February 28, Rare Disease Day.
“With over 7000 unique rare diseases, learning each individually would be unfeasible,” said Dr. Lucy McKay, CEO of M4RD. “However, there are vast commonalities between these conditions and the impacts they have on patients. Treating rare disease as an ‘umbrella term’, for education, highlights the similarities and shared factors that rare disease patients experience and helps addresses a current gap in medical education.”
The National Organization for Rare Disorders also offers continuing education for health care professionals. See NORD’s course offerings.
A Grassroots Med Student Movement
In March of 2022, a group of medical students published a journal article that pointed out the current lack of rare disease education in their training and made recommendations for addressing the problem.
“We are medical students representing institutions from the United States and Canada who believe that trainees can drive change in the landscape of rare disease care. In addition to highlighting a need for medical education to inculcate the knowledge and skills to effectively care for rare disease patients, we describe our efforts including a combination of peer-assisted learning, patient-oriented outreach, and interprofessional collaboration, which are intended to improve awareness of rare disease among future medical professionals,” the authors wrote.
The students are studying at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia; the Johns Hopkins School of Medicine in Baltimore; and McGill University in Canada. They note that med students are taking action to expand their knowledge base. At the University of Pennsylvania’s medical school, student leaders created an elective course about rare disease to give trainees a framework to build upon.
The students also called for more interdisciplinary collaborations and more direct outreach to patients, to build trust with the rare disease community.
“A core aim of the student-driven rare disease initiatives is to inspire hope among patients and families of an improved healthcare future for rare disease patients and their families,”
Read their article in the Journal of Vascular Anomalies: Spotlighting the Zebras: A Role for Medical Students in Shaping Rare Disease Care.