Sharing Stories, Sharing Hope
November 13, 2019
I am fairly new to rare diseases, having had very little personal knowledge throughout my life about the people and families afflicted by rare diseases. I began writing and editing stories about them only recently—the affected families and their diagnostic odysseys, the clinical trials of potential treatments, the growth of patient advocacy, and the regulatory environment. I still have a hard time pronouncing many of the names of the thousands of known rare diseases.
Recently, I attended Disorder, The Rare Disease Film Festival, which took place over the second weekend in November in San Francisco, in order to get a better feel for this community that encompasses more than 400 million people worldwide.
The festival, in its third year, is the brainchild of two fathers who have children with rare diseases, Bo Bigelow and Daniel DeFabio, who met at an advocacy conference and realized they had both made films about their personal experiences.
The festival is not only a way to raise awareness about rare diseases, but also to spur collaboration among rare disease patients, caregivers, researchers, and the pharmaceutical companies working to provide therapies for the enormous unmet needs of this population.
Meeting Bo and Daniel, I was surprised by their enthusiasm and positive attitudes. They told me that they hoped the festival would spark conversation and collaboration, and offer hope to those who struggle with caring for loved ones afflicted with the disabilities of rare disorders.
In fact, I quickly met a woman who has helped start a foundation for a very rare genetic disorder and who excitedly told me about the progress her organization is making in spurring research in the condition.
The films I saw came from all over the world, and although we were warned to have tissues handy, they were not sad. I found myself amazed by the resiliency and hope that exists among many of the patients and their families that were featured in the stories.
In one story, the parents are advised to “go make memories” because there are no treatments to stop the degeneration of their afflicted child, whose life will be cut short. After the shock, they do all they can to fight for their children and to make their life as comfortable as possible.
“Grace” follows the daily life of a teenage girl with Fredreich’s ataxia, and you can see how “normal” she is despite her disabilities.
In the film titled, “My Dad Matthew,” a son talks about his cool dad, a professor at a college in Arizona who is confined to a wheelchair and communicates with a pen mounted to his helmet because of cerebral palsy. He is beloved by his community, and all the football players bump fists with him after a game.
In between screenings, panels of researchers and rare disease parents provided insight into their lives and the importance of building connections with each other. Charlene Son Rigby, parent of a daughter who has the rare neurodegenerative disorder STXBP1, spoke of how you can’t do it alone and feel fortunate when you find other families dealing with the same issues. “There is so much hope and the willingness to do things for the patients to come,” she said.
We also heard from a husband and wife about their struggles figuring out how to spur research into their daughter’s condition—Usher Syndrome Type 1b. They ultimately decided to forgo setting up their own foundation and instead when with a fiscal sponsorship through a partnership with a larger established foundation. Under their partnership, they do fundraising that is then directed by the larger foundation to researchers working on treatments for their specific rare disease.
“How we tell our story is important,” said Justin Porcano, the father and founder of Save Sight Now, which is partnered with the Foundation Fighting Blindness. He said an advantage of the fiscal partnership is access to the FFB’s scientific advisory board.
Film is a powerful way to tell stories, and these stories of rare disease are stories of courage, love, and resilience in the face of often dire diagnoses. Stories of hope and stories to share.
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