Produced and directed by Academy Award-nominated Director Jason Cohen. this look at NGYL1 shows why we must not let the rare occurrence of a disease be a reason to ignore treating and curing them.
Featuring Chelsea Clinton, Cindy Crawford, Colin Kaepernick, Gabby Reece, Laird Hamilton, Marc Benioff, Molly Shannon, Bill Gahl, John Crowley, and Barbara Bush.
"Beyond Blue" by Cynthia Wade on a rare cancer survivor.
As so many of us shelter in place and worry about a disease that might be coming for us or a loved one, this film has a great perspective and some advice if you feel you can’t endure any more. It comes at the 6 minute mark.
Barbara, the film’s heroine battling MPN, feels the end is close, she can't fight anymore. Her friend pleads with her to fight for one more day. “I can't do this. I can't go another hour.” Then just 5 more minutes. “I can't fight for 5 more minutes” Okay then just do one more breath, “Okay, one breath at a time.”
One example of how the rare disease mindset might be useful during the covid19 pandemic.
More thoughts along these lines are here.
#raredisease #covid19 #pandemic #MPN #cancer
"Brick in the Wall" on Myotubular Myopathy
Brick in the Wall 18.5 minutes, addresses Myotubular Myopathy directed by Seth Evans and Jordan Danelz
Brick in the Wall follows the life and legacy of Joshua Frase, and his parents Allison and Paul (ex NFL defensive tackle) on their journey of finding a cure for his rare disorder, myotubular myopathy (MTM).
"Perfect Brothers" on Goldenhar Syndrome
Perfect Brothers 4.5 minutes, addresses Goldenhar Syndrome directed by Claire Banks
A beautiful look at tow loving brothers, one of whom has Goldenhar Syndrome. The film covers to horrible abuse and support the boys have endured on social media.
"Bad Days, Good Days, Rare Days" on 8 Rare diseases
We made a new film just in time for Rare Disease Day. A film about days with Rare Diseases. While rare families gathered at our film festival last fall, some of them told their stories on camera for us. Eleven families told us what was bad, what was good and how rare it is.
The short film covers the struggles with 8 rare diseases: Bosch-Boonstra-Schaaf optic atrophy syndrome, ichthyosis, EB, SYNGAP1, Menkes Disease, Dyskinesia, Okur Chung Syndrome, STXBP1
Directed by Daniel DeFabio 7 Minutes
"Unconditional", on PACS1 and rare siblings
“Unconditional, Raising a Glass Child with a PACS1 Sibling” directed by Jon Dorflinger looks at the impacts of a rare disease on the sibling in “typical” health. Charlie has a brother Finn who has PACs1. Siblings like Charlie have been called “glass siblings” since parents often look through them to tend to the more urgent needs of the child in crisis.
More information is here.
"Finn" on Hunter Syndrome MPS
Filmmaker Jon Muedder puts himself and his family in front of the camera as they face a future in which their 3-year-old son, Finn, will experience mental and physical regressions.
Directed by Christian Schultz 7 minutes, addresses Hunter Syndrome MPS
"This is Michelle" on EB
Actor William H. Macy narrates this look at Michelle Hall as she faces EB (Epidermolysis Bullosa) and works at a foundation that fights to find the cure.
Directed by Patrice Lighter - 8 minutes
"Counting Every Second" on GAN
Counting Every Second, is the story of Hannah Sames. A beautiful, young girl, diagnosed with GAN (Giant Axonal Neuropathy) and her appreciation for the lab techs working on her cure.
Directed by Andrew Puccio 18 minutes