September 12, 2018: This September, The Rare Disease Film Festival returned to Boston for its second year. The event featured twelve films and trailers for future projects. Film topics were remarkably diverse, ranging from the charismatic account of an Epidermolysis Bullosa patient (This is Michelle) to a Hollywood production written by a young girl with mitochondrial disease (The Magic Bracelet).
A major theme of the event was how storytelling can give those struggling with a rare disease a powerful voice. Nicole Boice, founder of Global Genes, said that “storytelling can influence, impact, and inspire people to take action”.
These films allow viewers to empathize with rare disease patients. Since rare diseases can be difficult for those without firsthand experience to understand, this encourages people to care about rare diseases, leading to more funding, research, diagnoses, and possible treatments.
If you are skeptical that a story about a rare disease can have a real impact, just ask Daniel MacArthur, a rare disease researcher at Harvard University. MacArthur says that reading the stories sent to him by families affected by rare diseases were a big part of the decision to focus his research on rare diseases. According to MacArthur, these stories “fundamentally altered the course of [his] research” and that as researchers, “success stories help drive us on”. MacArthur’s team now develops new methods of analyzing genomes to find disease-causing mutations.
These films serve as a reminder that although no two experiences with a rare disease are the same, sharing stories can provide guidance, comfort, and a sense of community. Just watch the film “Tess is Not Alone,” which tells the story of a child diagnosed with a mutation in the USP7 gene. After using the internet to find others with this mutation, her parents build a network of families who exchange advice and information. They go on to meet in person and form lasting relationships with these families. By simply telling their story, Tess’ family goes from feeling like they are alone in dealing with this disease to forming a community whose members can support each other and provide a glimpse of what the future holds for their children.
When dealing with an extremely rare disease with little to no available information, the ability to share these stories is an invaluable tool. These films allow any viewer to get to know someone with a rare disease. Since the average person will likely never meet a rare disease patient, this is a tremendous opportunity for spreading awareness.
If you couldn’t attend this year’s festival, some of the films can be found here:
Rare in Common https://www.youtube.com/watch?v=PvPjAA03ZCE
This is Michelle https://www.youtube.com/watch?v=r0eQ05qB_rU
Tess Is Not Alone https://www.youtube.com/watch?v=8w_Lejbi6sE
Rare Is Not an Excuse https://www.youtube.com/watch?v=48abBLc3R4k
The next Rare Disease Film Festival is set for Fall 2019 so if you are a patient, advocate, researcher, filmmaker, or just interested in rare diseases, keep your schedule open.
Author Bio: Zoe Mandese is a biologist who is enthusiastic about using genetic data to improve lives. In her day job, she works with DNA sequencing and analysis. Zoe is volunteering with the Rare Genomics Institute as a copywriter and blogger writing about the complex factors surrounding rare disease.