Rare Disease Awareness Campaign
Rare Disease Awareness Campaign
Harnessing the Power of Film
There is a huge unmet need in the field of rare diseases. The lack of knowledge, research, funding, and support for these conditions often lead to misdiagnosis, disparities in care, and isolation for so many patients and their families. AMWA hopes to bridge this gap by harnessing the power of film and storytelling to bring these patient stories to light and educate both patients and practitioners.
AMWA’s goal is to curate a gallery of films about rare diseases and promote screenings of these films to increase knowledge and understanding — perhaps in a way that is even more effective than publications, lectures, or case-based reports. This field is of particular interest to AMWA because of the compounded influence of sex and gender biases that already hinder women from receiving appropriate and timely treatment, even for common conditions. The film, Ms. Diagnosed, highlights the potentially devastating impact of delayed diagnoses.
From this example, we see how the medical humanities are becoming increasingly relevant in healthcare, not just for wellbeing of the practitioner but also in education, advocacy, and improving patient care. This initiative also links to AMWA’s interest in promoting undergraduate and graduate medical education and advancing careers in medical science.
The Dr. Vivian E. Shih Fund, which supports AMWA’s graduate medical education work, is named after Dr. Shih, a renowned expert in the field of metabolic genetics. As a researcher and practitioner in the field of rare diseases, she made a significant impact on the lives of generations of patients. We also hope to inspire future physicians to take an interest in pursuing careers that may lead to innovations in research and therapeutics within this growing area of healthcare.
What is the importance of this campaign?
Delays in Diagnosis Are Often Due to Lack of Knowledge and Awareness
Nearly 1 in 10 persons in the U.S. lives with a rare disease. One of the main challenges that these individuals face is delayed diagnosis. A study in 2019 showed that only 36% of patients had been diagnosed with a rare disease within the first year and 28% said that it took seven or more years for the diagnosis to be made. And 38% of patients said that they had been misdiagnosed at some point. Half of the patients and caregivers attributed delays in diagnosis to a lack of disease awareness. (Source: Barriers to Rare Disease Diagnosis, Care, and Treatment in the US: A 30-Year Comparative Analysis; NORD, November 19, 2020)
Another study showed that 94.6% of physicians felt that their knowledge on rare diseases was insufficient or very poor and less than 5% felt prepared to care for patients with rare diseases. (Source: Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study; Orphanet Journal of Rare Diseases, September 28, 2021.)
In a study on hereditary angioedema (HAE), it was found that one important cause of diagnostic delay is the “lack of suspicion of a rare disease by patients and their medical professionals,” suggesting that increased awareness is needed about rare diseases. (Source: Why does it take so long for rare disease patients to get an accurate diagnosis?—A qualitative investigation of patient experiences of hereditary angioedema, Plos One, March 18, 2022)
More work is need to improve education and awareness of rare diseases. Since these case presentations are so uncommon, film may play an important role in education and advocacy. The film Rare shows just how powerful this advocacy can be in helping to launch clinical trials that study therapeutic interventions.
Medical Trainees Can Be Part of the Solution
In one report, medical students stated that trainees can help drive change within the “landscape of rare disease care” and that “future providers need increased breadth of basic medical knowledge about rare diseases.” (Source: Spotlighting the Zebras: A Role for Medical Students in Shaping Rare Disease Care, Journal of Vascular Anomalies 3(1):p e034, March 2022) There are opportunities for education at the undergraduate (medical school) and graduate medical education (residency) levels.
The Power of Film in Storytelling
Film plays an important role in storytelling. Harnessing the power of film may be more effective than a host of didactic exercises because it allows the voice of the patient to shine through in a way that may be far more memorable than facts, figures, and data.