RARE DISEASE FILMS: An inspiring line-up of short films
The featured films will be screened in three different tracks to allow time for a short break in between each track for networking opportunities and round table discussions.
Track One
Family Unity, Advocacy and Resilience
Bad Days, Good Days, Rare Days
Eleven families describe what it's like to struggle daily with eight different rare diseases.
Directed by Daniel DeFabio
Including Epidermolysis Bullosa (EB),Syngap1, Menkes Disease, Ichthyosis, Dyskinesia, Okur Chung and Bosch-Boonstra-Schaaf optic atrophy syndrome.
7 minutes
Timothy Syndrome Alliance
This short film creates awareness on all aspects of Timothy Syndrome & all other deleterious CACNA1C gene change families.
Directed by Rob Bradshaw
Timothy Syndrome
11 minutes
Miracle Man
J.J. is a 5 year-old boy diagnosed with CHAMP1 an ultra rare genetic disease discovered in 2015. Patients with CHAMP1 have a reduction in the CHAMP1 protein below the 50% which is necessary for proper neurological function and development.
Directed by Angelina Lotrecchiano and Sydney Novack
CHAMP1
4 minutes
A Wonderful Life for Scarlet
Scarlet was born with an extremely rare genetic mutation known as Schinzel-Giedion Syndrome. Her story is truly one of a kind and can help bring awareness to the ever increasing need for professional nurses in the home.
Directed by Rob Bradshaw
Schinzel-Giedion Syndrome
9 minutes
Track Two
Collaboration for Courage, Awareness and Support
This is Mito
An inside view into the struggles of families battling Mitochondrial disease.
Directed by Jon Dorflinger
Mitochondrial Disease
7 minutes
Tess is Not Alone: A USP7 Story
A family seeks a diagnosis for their daughter Tess on the internet. They discover she is one of eight known cases in the world of USP7. Next they establish a foundation and locate dozens more facing the same rare disease.
Directed by Bo Bigelow
USP7 Gene Mutation
8 minutes
GM1 Gangliosidosis: Armand's Story
A documentary from the perspective of two parents whose child, Armand Hayes, has been diagnosed with the rare disease GM1, a disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
Directed by Aubrey Keith and Haley Shepard
GM1 Gangliosidosis
9 minutes
CPN Courageous Stories: Soul Mates
Beckett and Clementine were born with a rare metabolic disorder. They died two months apart at ages 2 and 3
Directed by Blyth Lord
Tay-Sachs, Sanfilippo Syndrome (MPS III)
6 minutes
Track Three
Self-Advocacy and Impactful Storytelling
Dustin Clark: The Humanity in Who We Are
Dustin Clark is a musician, an artist, and a man who sees challenges as possibilities. Diagnosed with Muscular Dystrophy at the age of 10, he is in a constant state of reinventing how he approaches each creative endeavor. When it comes to music, his current process involves the tediously clicking in notes on his computer, a guitar suspended from the ceiling, and help from friends and family.
Directed by Brandon Abbott
Muscular Dystrophy
6 minutes
A Day in My Life
The story of "A Day in my Life" briefly follows a young woman's morning routine with a genetic, incurable lung disease - cystic fibrosis. Winner of Best Short Film Documentary at Hollywood Film Awards.
Directed by Joe Berg
Cystic Fibrosis
4 minutes
My Life with VEDS
Katie’s life was turned upside down when she was diagnosed with a spontaneous, life-threatening genetic condition without a cure at 28 years old. In “My Life with VEDS,” she chronicles her experiences with the condition and clues that hinted to the diagnosis her entire life, delivering the stories of life-threatening risks and experiences she’s had with hope it may help others.
Directed by Katie Wright
Vascular Ehlers-Danlos Syndrome
15 minutes
Love is Out There
A short film about Frontotemporal Degeneration, caregiving, and taking the power back from rare disease. Katie Brandt is an advocate who lost her husband to FTD, and she is not letting FTD have the final word in her family's story.
Directed by Ghita Benslimane
Frontotemporal Degeneration
5 minutes
