Playlist
<p>Claudette Johnson is 12 years old and she has scleroderma, which is a rare disease. But, Claudette doesn't think she's so rare.</p>
<p dir="ltr">There is a myth about Ondine, a water nymph, who fell in love with the mortal. Because of his infidelity, she put a curse on him that he would breathe only as long as he remembered about this. And so he died, as soon as he fell asleep. There is also a rare medical condition called Ondine’s Curse (CCHS). People affected with this disease stop breathing during sleep and require a lifetime mechanical ventilation on a ventilator.</p> <p dir="ltr">Cezary (22) still lives with his mother (50) and he is in love with Emilia (20), a rock singer. He also has a dark secret. One day all three of them have to deal with the mythical Ondine and her curse.</p> <p dir="ltr">Film is a fiction sequel to Oscar Nominated short documentary "Our Curse" (2013). It is dedicated to director's son, Leo, and all people suffering from CCHS and their friends and families.</p> <p><br> </p>
<p>Rare disease is anything but rare. As many as 7,000 rare diseases affect 400 million people globally. The vast majority are not well understood, and less than 5% have approved treatments. Yet worldwide, patients and their loved ones are meeting these challenges head on. They are going back to school to become scientists; they are organizing research communities and building patient registries; they are even selling cupcakes to start research centers. This short film celebrates eight of these stories -- and calls out the Chan Zuckerberg Initiative’s commitment to supporting patients and rare disease communities in their quest for cures.</p>
<p>Journey of Hope is a short film offering a glimpse in to the lives of families where children have received a rare genomic diagnosis. In a world where labels and diagnosis are often framed negatively, this film highlights the reality of both the search for a diagnosis and the impact of the diagnostic moment. Above all else it compels us to think about the power of genetic diagnosis to reframe how we view our relationships, how we understand each other and most significantly, how a different kind of ‘hope’ is possible.</p>
<p>In this film, we meet Calvin, who has Atypical Timothy Syndrome – now referred to as a CACNA1C-related disorder. The film highlights the challenges faced by families and how peer support, and the friendship and information that brings, can make a huge difference. Through the words of Calvin, his parents and other members of Timothy Syndrome Alliance, we learn how rare communities are ‘stronger together’.</p>
<p>Maria is a survivor for over forty years. This is a short film about Maria and her journey. Growing up with a rare blood disease, figuring out her best way to survive and leading and inspirational journey as a survivor of Thalassaemia. As and advocate and outreach leader Maria has help others with this rare disease acquire the help they need.</p>
<p>This is the story of Hollywood photographer, Robert Zuckerman, whose “life through a lens” gets turned upside down after he is diagnosed with a rare, debilitating genetic disease, generally referred to by its initials, APBD. The challenges Robert has faced – continues to face each day – would have been insurmountable for most. But not Robert.</p>
<p>Eli Meyer is 6 years old. He's just a regular kid; he enjoys arts and crafts and jumping on his trampoline. Eli also has Junctional Epidermolysis Bullosa.</p>
<p>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.</p>
<p>A glimpse of Emily Schaller’s story, founder of Rock CF. Growing up with a life-shortening genetic disease, she always assumed that her life would end before adulthood. But now she’s living into a frontier she never expected.</p>
<p>A documentary from the perspective of two parents whose child, Armand Hayes, has been diagnosed with the rare disease GM1.</p>
<p>Scarlet was born with an extremely rare genetic mutation known as Schinzel-Giedion Syndrome. Her story is truly one of a kind and we hope our film can help bring awareness and change to the ever increasing need for professional nurses in the home and equal pay. The bond and strength the Wagner family has is both admirable and inspiring.</p>
<p>Grey’s Anatomy. ER. That one with the guy from Garden State. Sure, there have been tons of other hospital shows, but never before have we seen... Generic Hospital! Generic Hospital- STB!’s new, live soap opera- attempts to edu-tain its audience with a story on vWD, getting diagnosed, and the burden carried by caregivers, but a series of misunderstandings leads to hearts getting crossed, glasses getting lost, and a lotta people really confused about a lotta stuff! And of course, through it all, Benny is challenged with keeping Spencer from making a terrible, terrible, like really terrible decision. But can he? Will he? Must he? Find out on Episode 48 of Stop The Bleeding!</p>
<p>Mila was diagnosed in January 2017 with Batten disease; a rare disease caused by genetic mutations that leads fat to accumulate in nerves and brain cells. Her type of Batten’s is particularly rare and fatal with no therapy available. Her family is on a mission to turn her incredible story into a new treatment path for children across hundreds of devastating disease.</p>
<p>Watch as Isabelle from the U.S. and her elementary school classmates learn about how the kidneys and liver work and Isabelle shares what it’s like to live with PH1 (primary hyperoxaluria type 1), a rare genetic disease.</p>
<p>Watch as Asha from Egypt learns about why frequent doctors' visits are necessary when you have PH1 and comes to understand how they're part of helping keep her as strong and healthy as possible.</p>
<p>The short film shows the life of Candela, a unique survivor in a post-apocalyptic future. A woman who, in addition to facing the difficulties of subsisting in an almost sterile environment, where insects are the only source of natural protein, suffers from a rare disease: PKU. Unfortunately, or fortunately, the Biosensor is what guarantees your survival. Phenylketonuria, also called PKU, is a rare, hereditary and uncured disease caused by an enzyme deficiency. When a person with PKU consumes too much protein or artificial sweetener, it can result in serious health problems such as irreversible brain damage. The objective of this short film is to raise funds to develop the Biosensor needed to monitor the amount of protein in the blood and regulate the level of protein intake.</p>
<p>Watch as Luuk and older brother Sem from the Netherlands talk about life with PH1, while Sem helps Luuk understand why he is not alone and should feel hopeful.</p>
<p>Based on a true story, Uncovered sheds an honest light on the broken healthcare system within America and how the type of insurance a person has, directly determines the quality of care they receive. Our two characters find themselves suddenly faced with a similar diagnosis, but their journeys to health could not be more different.</p>
<p>A short film about a family’s experience with rare disease by incredible filmmakers, Courtney Hardebeck McCarty and Donovan McCarty.</p>
<p>Rare in Common" is a 25-minute documentary directed by Alisa Shakarian and Marc Dole that delves into the lives of five families confronting the challenges of rare diseases, including Duchenne Muscular Dystrophy, Sturge-Weber Syndrome, Morquio A Syndrome, and Osteogenesis Imperfecta. The film offers an intimate portrayal of their daily struggles, resilience, and the shared experiences that unite the rare disease community. Produced by Cambridge BioMarketing, "Rare in Common" serves as a poignant reminder of the humanity we share.</p>
<p>Research is Hope" is a 4-minute documentary directed by Christina Loccke and Griffin Hammond. The film highlights the critical role of medical research in understanding and addressing various health disorders. Through personal stories and expert insights, it underscores how research fosters hope and advancements in medical science, aiming to inspire support for ongoing scientific endeavors.</p>
<p>"Finding Our Voice" is a 35-minute documentary directed by Evan Gardner that delves into childhood apraxia of speech—a motor speech disorder that makes it difficult for children to speak. Diagnosed with apraxia at age three, Gardner embarks on a personal journey to understand the condition better. The film features interviews with experts, individuals affected by apraxia, and their families, shedding light on the challenges of diagnosis, the disorder's impact, and the supportive role families can play.</p>
<p>"Journey into the Rare" is a 6-minute documentary directed by Andrew Olson and Cordelaine Kline that explores SETBP1 haploinsufficiency disorder (SETBP1-HD), a rare genetic condition. The film features personal stories from families affected by SETBP1-HD, highlighting their challenges and resilience. It also includes insights from medical professionals, emphasizing the importance of research and community support in understanding and managing this disorder. The documentary aims to raise awareness about SETBP1-HD and foster connections within the rare disease community.</p>
<p>"Dustin Clark: The Humanity in Who We Are" is a 7-minute documentary directed by Brandon J. Abbott that delves into the life of musician and artist Dustin Clark, who was diagnosed with Muscular Dystrophy at the age of 10. The film showcases Clark's innovative approaches to music creation, including using a guitar suspended from the ceiling and collaborating with friends and family to overcome the physical challenges posed by his condition. It serves as an inspiring narrative about resilience and the transformative power of art.</p>
<p>Charlotte and Cooper's Diagnostic Quest is a 3-minute documentary directed by Jill Hawkins that chronicles the journey of her two children, Charlotte and Cooper, who were among the first diagnosed with a rare genetic disorder caused by mutations in the FAM177A1 gene. The film highlights the family's extensive search for a diagnosis, the challenges of living with an ultra-rare condition, and their efforts to raise awareness and support for research into FAM177A1-related disorders. Jill Hawkins, as both the director and mother, provides a deeply personal perspective on the impact of rare diseases on families and the importance of advocacy and research in seeking treatments.</p>
<p>"Cure Rare Disease" is a 6-minute documentary directed by Pat Lore that delves into the mission of the non-profit biotechnology company Cure Rare Disease (CRD). The film highlights CRD's innovative approach to developing personalized therapeutics for individuals affected by rare genetic disorders, with a particular focus on Duchenne Muscular Dystrophy (DMD). It showcases the organization's collaborative efforts with leading researchers and clinicians to create customized treatments tailored to the unique genetic profiles of patients. The documentary emphasizes the challenges and breakthroughs in the quest to find effective therapies for DMD and other rare diseases, underscoring the importance of personalized medicine in transforming patient care.</p>
<p>How do you live with skin that, like an ultra-sensitive film , risks burning and becoming overexposed as soon as it is exposed to light? Through a series of interviews and testimonies, including that of the director himself, this documentary tries to tell and show the strange love-hate relationship that erythropoietic protoporphyria sufferers have with sunlight .</p>
<p>Devon's mother is a painter who has been diagnosed with Amyotrophic Lateral Sclerosis (ALS). Now the Tout family must find a way to help her find hope.</p>
<p>FSHD is a rare form of Muscular Dystrophy, also known as Facioscapulohumeral Dystrophy. This type of MD, most severely affects your face, scapula, and arms, but overtime, the majority of the muscles are affected. In most cases, as you age, your muscles deteriorate. The muscles do not regenerate, therefore causing a lot of pain, weakness and adapting to new ways of life.</p>
<p>The Yellow Brick Road Project is collaborating with researchers from St. Jude Children's Hospital and Andlit Therapeutics, to find interventions that will change the lives of those touched by HNRNPH2 Mutations.</p>
<p>Faithfully is a coming-of-age short film that follows the relationship between Mark, a single father, and his daughter, Emma. When Emma’s desire to have the perfect prom day is interrupted by hardships due to Mark’s disability, she must make an important decision and learn what it means to be truly “seen”. It is a heartwarming and poignant depiction of how a rare disease affects the lives of a father and daughter, while creating a beautiful bond between the two.</p>
<p>When Tess was diagnosed with a rare mutation in her USP7 gene, her parents thought she was the only one in the world.</p>
<p>A look at a rare fatal genetic disorder called Menkes Disease. It prevents boys from metabolizing copper. Boys who get treatment in the first ten days of life can 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.</p>
<p>This film shows the Poague Zellinger family who are facing the rare disease 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. This is not only due to rare diseases but that’s a striking example.</p>
<p>An educational video for The Rare Disease United Foundation and Beyond the Diagnosis.</p>
<p>A young, idealistic Huntington’s Disease researcher comes face-to-face with three generations of a family devastated by the fatal, incurable disease she studies. For the scientist, who has never met anyone with Huntington’s Disease, the stakes of her research become real. For a Huntington’s Disease patient at the center of the story who is watching her mother sicken, fearing her own demise, and afraid for her two kids, it’s a mother’s plea - and a race against time.</p>
<p>The film tells the story of Tyler, who lost his ability to walk, see, and hear by the time he was 10. The cause remained a mystery until U of U Health scientists searched his DNA for clues. What they found led to a discovery that changed the life of one remarkable boy.</p>
<p>Harry was born with a facial disfigurement due to a condition called “Goldenhar syndrome”. He is one of the 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.</p>
<p>Treacher Collins is a condition in which the cheekbones and jawbones are underdeveloped.</p>
<p>At just three years old Millie is diagnosed with Neimann-Pick type C, a rare autosomal recessive disease characterized by neurodegeneration. The film, narrated by Millie, shows her parents dealing with her physical and mental decline over the years until her death at 10 years old. It's a sad, sensitive glimpse that forewarns potential parents of genetic deficiencies they may have in common.</p>
<p>A short poetic and experimental documentary exploring synaesthesia, a neuro-cognitive phenomenon where one or more senses are blended together. 'My Dad Is Orange' will take you on a multi-sensory journey where you can explore a world where it is possible to smell sounds or even taste colours.</p>
<p>The Magic Bracelet' mysteriously links best friends Angela, Ashley and a cheese obsessed dog. When Ashley inherits a totem bracelet from a friend who died of Mitochondrial Disease - the same illness she herself battles - it leads the girls on a mystical journey of discovery in which a new level of friendship, family and healing is revealed. This project was created by Make A Film Foundation to fulfill the wish of 15 year old Rina Goldberg whose final words to her mom before she died of Mitochondrial disease were 'Promise to take care of my film.</p>
<p>Matthew, a man with a significant disability, and his son, Elijah, use a wheelchair, a pointer and a letter board, to show us Matthew is a college professor, an honorary coach for the football team, an advocate and a dad.</p>
<p>This is the story of Michelle Hall. She was born with a severe form of EB. Now, for the first time, she has hope that she and thousands of others, will see a cure.</p>
<p>This is the story of Joshua Frase. His life. His legacy. The ripples of his courage have spread wide. What hope do we cling to in the darkest of waters?</p>
<p>The short film covers the struggles with 8 rare diseases: Okur Chung Syndrome, EB, SYNGAP1, Menkes Disease, Bosch-Boonstra-Schaaf optic atrophy syndrome, ichthyosis, ADCY5 related Dyskinesia, STXBP1</p>
<p>Love Is Out There is an education and awareness campaign 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. With a focus on resiliency, Katie aims to connect with caregivers, provide education about FTD, and raise funds towards research and a cure. Katie wants to share her story with a wider audience.</p>