Disorder: The Rare Disease Film Festival co-founders Bo Bigelow (left) and Daniel DeFabio. (Photo/Erica Derrickson)
Bo Bigelow and Daniel DeFabio are on a mission. The two men first met at an advocacy conference in 2015, where they discovered they share a common bond. Each has a child with a rare disorder, and each had produced a film about their child’s struggle with a daunting medical condition.After the conference, DeFabio called Bigelow with an idea. Since there were no film festivals in the U.S. dedicated to rare diseases, DeFabio proposed he and Bigelow establish a festival for films that tell the stories of patients with rare diseases and the challenges they face.
Bigelow, whose 8-year-old daughter Tess has a rare gene mutation known only as USP7, didn’t need to be persuaded by DeFabio, whose 9-year-old son Lucas has Menkes syndrome, which is characterized by a failure to thrive and by deterioration of the nervous system. Their goal was to raise awareness and encourage early detection as the best hope for people with rare diseases until there are cures.
Bigelow had already made national news when he used Reddit and social media to find a diagnosis for his daughter’s genetic disorder. That experience became the basis for his film, ”Tess Is Not Alone,” which chronicles his daughter’s battle with a disease that is so rare – there are only 29 reported cases in the U.S. – it doesn’t yet have a name.
DeFabio’s film, “Menkes Disease: Finding Help & Hope,” is about Menkes and its effect on Lucas. Tragically, the life expectancy for a child with Menkes is 3 to 10 years if not treated within the first 10 days after birth. DeFabio says the last few years have been happy ones for his son. “It’s hard to believe next year may be his last,” he adds. “You know that at some point there’s going to be a downturn.”
Their mission to launch a film festival that would be self-sustaining and that over time would showcase a film for as many of the approximately 7,000 rare diseases currently identified as possible wasn’t just ambitious, it was next to impossible. But that didn’t deter DeFabio or Bigelow. While they acknowledge having had some reservations about the project, they forged ahead.
“We didn’t quite know what to expect,” Bigelow says. “Would there be enough films to show? What about sponsor interest and what if we couldn’t fill the seats?” But they were both certain about one thing – they owed it to their children to see the festival through.
DeFabio and Bigelow originally planned to hold a one-day festival called, Disorder: The Rare Disease Film Festival, in Boston. But it turned out getting enough films wasn’t a problem. The first festival, which was held last fall, featured 30 independent films about the rarest of rare diseases such Menkes, USP7, Chiari malformation, fragile X syndrome, urea cycle and mitochondrial disease.
“The response from people wanting to make films was tremendous,” Bigelow says. “We ended up having to turn some very good films away and expand the festival to two days.” Films were submitted unsolicited and some were from filmmakers Bigelow and DeFabio knew.
Filling seats wasn’t a problem either. The festival sold out five of seven screenings, generating more interest than either of them anticipated. “There was more of an appetite for films about rare diseases than we could have imagined,” DeFabio says. “Telling patients’ stories is a powerful way to inform and educate the public about rare diseases. Making people aware of the importance of early diagnosis, especially with a disorder like Menkes, can save a life.”
“The Magic Bracelet,” a short film about mitochondrial disease starring Academy Award winner J. K. Simmons, was a hit at Disorder: The Rare Disease Film Festival.
But DeFabio and Bigelow wanted to do more than just raise awareness. “We wanted to spark a conversation,” DeFabio explains. “We wanted patient advocates, healthcare providers, researchers and pharmaceutical companies to engage in dialogue that would lead to action.” He adds that he and Bigelow also wanted to convey the message to the pharmaceutical and biotech industries that, “If you haven’t heard of any of these diseases being shown at the festival, take a look at what you’ve already got in the works and see if it might be applicable to treat these other diseases.”
From the perspective of a parent of a child with a rare disease, Bigelow says he’s realized that it's the connections with other advocates that make all the difference. “Whether it's another family who knows what you're going through, a filmmaker whose vision perfectly captures your struggle, or a scientist whose cutting-edge research is precisely what you need, these connections spread hope, enthusiasm, and crucial information,” Bigelow says.
Spinal muscular atrophy and its devastating effect on a young boy and his family is the subject of “Love and Atrophy,” which screened at Disorder: The Rare Disease Film Festival.
Was there a common thread among the films in the inaugural festival? According to the producers, the answer is yes. It was a thread that started with tragedy and moved on to hope and finally, possibilities. DeFabio and Bigelow continue to thank the patients who were the subjects of the films for agreeing to a public persona and to putting themselves out there.
In launching the festival, Bigelow and DeFabio set out to bring what seemed to be disparate interest groups together and remind them that they are a shared interest group. “Whether it’s a film festival or any other efforts Daniel and I undertake, it’s with the idea that our advocacy efforts should be brought together. Alone we’re rare,” Bigelow says, “together we’re powerful. Between 25 and 30 million Americans have a rare disease. Acting with one voice, we’re far more likely to be heard.”
The next rare disease film festival is planned for fall 2019. For more information about how to submit a film for the festival visit rarediseasefilmfestival.com.
