More than 7,000 rare diseases often go undiagnosed or are diagnosed with uncertainty because healthcare providers don’t see them or don’t think to look for them. Rare diseases have long been equated to zebras. And for this reason, medical students are taught to look for and treat horses. But if you are taught to focus on horses, will you know what to do when faced with a zebra?
In 2018, the RARE Compassion Project matched 96 students and families and saw participation across three countries and 54 medical schools. With more than 1,400 patient or family applications, the need for additional resources is apparent and growing. Medical student, program participant and rare disease patient, Kristin Hunt, recalls her rare disease getting an “honorable mention” during medical school.
I quickly realized that there remains a large gap in medical students’ understanding of rare diseases and the unique challenges that rare patients face. – Kristin Hunt
Kristin was matched with a rare disease patient awaiting a confirmed diagnosis. Over the course of their relationship, Kristin learned of the difficulties of her diagnostic odyssey. Similar to many rare disease patients, it consisted of tests, disconnected symptoms and more than a decade of guessing. After seeing multiple specialists and a speculative diagnosis, a geneticist confirmed it was most likely the rare disease patient had Ehlers-Danos syndrome.
It is estimated to take a rare disease patient an average of eight years to receive an accurate diagnosis. An accurate diagnosis allows healthcare professionals to provide more effective treatments and medical plans. Without recognizing possible symptoms and the nuances of rare disease, it’s easy for both providers and patients to become frustrated.
Inspired by her experiences in the program, Kristin founded her medical school’s first Rare Disease Interest Group where she organized events to help prepare future physicians for rare disease diagnosis. “I hope all future and present physicians take it upon themselves to continue looking for answers for their patients, even if at first those answers are hard to find,” said Kristin.
Applications are now being accepted to participate in the 2019 RARE Compassion Project.