About nine years ago, after the birth of their daughter, Tess, Bo Bigelow and his wife Kate McCrann moved from New York to Maine. Bo, a commercial litigant, was planning to find another legal position; Kate, a gastroenterologist, had to practice locally.
Previously, however, Tess' Bigelow's development issues initially transformed into a stay at home and then as an advocate. The lack of doctors turned to recognize Tess' s condition – an even conclusive diagnosis failed to be the result of an exhaustive sequential test – Bigelow went publicly with a story and frustration through a heartfelt blog post he added to social media. Less than 24 hours later, a researcher came from Baylor University out. Within weeks, Tess was the eighth person diagnosed with a rare mutation of the USP7 gene.
Since then, Bigelow and McCrann have sympathized with the Foundation for Related Diseases of USP7, which seeks to identify additional patients and fund research towards medicine. Bigelow also met Daniel DeFabio, “another rare disease father”, who made a film about his son's battle with Menkes Disease. Both stayed in contact and, in 2017, DeFabio suggested organizing an event that focuses on screening rare disease films and debates on a range of conditions.
“We were just getting our foundations, so I told him, d I would love to work with you on something, but this is not,” ”Bigelow recalls. “But he said there was no better way of finding other patients than by making a film, and that I should do one.” T
When Bigelow suggested that his whole film experience was “making funny videos” on his phone, DeFabio volunteered to make editing and production. Bigelow's Sole Tess: Story USP7 Completed in 2017.
Bigelow and DeFabio had modest ambitions for the first event, which they received as Disorder: Rare Disease Film Festival. “The goal of our two films was to show and maybe a few more, and maybe a sponsor would get to cover costs,” Bigelow said. “We didn't know if anyone would come. It's not like Jim Carrey's film festival, where you will laugh and give you a good time. It is not a fun night. It involves chronic pain and family that deals with things that are very hard. ”
The idea came up in Boston immediately, where the first festival took place, and beyond. Bigelow and DeFabio were most inspired by what they thought was the result of one festival not seen before.
“It is a cynical attitude, but Daniel and I had many attempts at a rare disease at that point, but they weren't going anywhere,” he explains. “I like my thing on Facebook, it doesn't do anything. The goal was awareness and action, so you had to get all the right people in the room and have these conversations. There can never be enough, ‘I did this thing with this disease, maybe it could work with that one. '”
Held in Boston on 2 and 3 October 2017, the first Radio Disease Film Festival featured 30 films and was supported by rare disease advocacy organizations (NORD, Global Genes, Beyond the Diagnosis) and pharma (Premier Research, Alnylam, Sanofi Genzyme). , Shire, Vertex). Despite its success, Bigelow and DeFabio considered that a change to the venue for this year's festival – to San Francisco on 9 and 10 November – is an essential step.
“We thought it was a good idea to get started. We want to see which people we can meet and what new collaborations there may be, ”said Bigelow.
Partners for the festival this year include Takeda, BioMarin, CSL Behring and BridgeBio Pharma. The refined slate has not yet been completed, but At the Edge of Hope, about life with Batten Disease and other conditions, and short animations Ian, about how a child who is bound by wheelchairs sends play in the school yard, into the festival already.
As a result of his experience with the festival, Bigelow has come to believe that the film is not used as a channel by health and pharmaceutical organizations. “We now have a unique power in our culture,” he says. “When you're looking at something in a theater, you can't go on quickly and you can't be colorful. The type is forced to slow down. ”
Bigelow only acknowledges the extent to which his work affects patients, not just those with a USP7 mutation, but those with other rare disorders. In the two years ago Life & Atrophy, a film which describes one family's attempt to treat a child with spinal muscular atrophy, which was examined at the first festival, Spinraza Biogen, who carried out a new treatment of the condition. Genetics of Hope, a sequence of sorts which describes the role played by the SMA community in the development of Spinraza, to lapse in San Francisco.
“After sitting in the audience and watching [Life&Atrophy[Life&Atrophy[Life&Atrophy[Life&Atrophy]in 2017, then see what has changed in less than two years – that's what we had hoped for, ”said Bigelow. “It's not happening with all the diseases, but it's still flowing.” T
With regard to his efforts to find more patients with USP7 mutations, Bigelow says, since the end of August, the number is up from eight Tess to 52 diagnoses. “We know that there are other patients out there,” he said. “It's all-living sequencing that comes down in price. We hope that it will go to the point where you can walk into Walgreens or CVS and map your genome for $ 20. ”
Third M is the weekly mean health column of MM & M. Do you have ideas or questions? Contact Larry Dobrow at email@example.com