RARE DISEASE FILMS: An inspiring line-up of short films
The featured films will be screened in two different tracks to allow time for a short break in between each track for networking opportunities and film discussions.
Chasing Cures – Parents Fighting for Progress, Awareness and Advocacy
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
We are living a parents worst nightmare. Our sweet son Darian, was recently diagnosed with a very rare and fatal genetic disease called GM1 Gangliosidosis. In short, his body is not producing a protein which is essential for the function of his nervous system, giving him less than 10 years to live. Currently there is no cure for GM1.
Directed by Clint Popineau
Menkes Disease: Finding Help and Hope
Academy Award nominee Mary McDonnell narrates this look at a rare fatal genetic disorder called Menkes Disease. It prevents boys from metabolizing copper. Boys must get treatment in the first ten days of life in order to have long and relatively normally lives. If the disease is not detected and treated that early their lives are much shorter and far from normal. This short documentary aims to explain some of the basics of the disease and treatment but also provide context with examples from three families across the globe showing that there is life after this terrible diagnosis. And that life is more joyful and hopeful than you might expect.
Directed by Daniel DeFabio
One Shot to Live
Single-gene therapy may be the greatest hope for thousands of children with rare diseases. But the greatest challenge is time, or the lack of it. In an increasingly faster-paced world, the parents of these children fight to save lives all while seeing the life around them through an entirely new lens; a lens that lets them live each day to the fullest.
Directed by Brandon Carmichael
Batten Disease, SURF1, Tay-Sachs Disease
FAM177A1 Charlotte and Cooper’s Diagnostic Quest
Charlotte and Cooper are joyful siblings with an ultra rare genetic disease, FAM177A1. We only know of 2 others and are searching for more.
Directed by Jill Hawkins
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
Siblings Supporting Siblings – Stories of Empathy and Understanding
Voice of Siblings
Three groups of siblings speak poignantly about what it is like to be the brother or sister of a child living with a rare, life-limiting disease. From COURAGEOUS PARENTS NETWORK, a nonprofit that empowers parents caring for children with serious illness, including the promotion of pediatric palliative care.
Directed by Blyth Lord
Tay-Sachs, GM1, Leukodystrophy
“Unconditional: Raising a Glass Child with a PACS1 sibling” introduces the Poague Zellinger family who face PACS1 syndrome, which affects their five year old son Finn. The phrase "glass child" refers to a sibling who might be neglected or given less attention because their brother or sister has more intense or dramatic needs.
Harry was born with a facial disfigurement due to a condition called "Goldenhar syndrome". He is one of twins and this follows the story of the close bond with his brother Oliver. After many operations to improve Harry's appearance he still gets a lot of negative attention but ultimately, he is a happy child.
Directed by Claire Banks
Me, My Sister and Blau
In October 2019, Lexi Townsin lost her life to Blau syndrome (early onset sarcoidosis). Her wish was to find a cure, but despite all their efforts the Townsins ran out of time before a cure was found. Lexi’s 9 year old brother Felix is determined to carry out her wish so that others do not suffer like she did. This is a story of love, dedication and courage.
Directed by Felix Townsin and Cheryl-Lynn Townsin