Playlist
<p>This is the story of Hannah Sames. A beautiful, young girl with a courageous spirit battles her only enemy - the ticking clock. What happens when the powerful will of a loving family intersects with people that dedicate their lives to scientific discovery?</p>
<p>A story about the life of Lou, who is diagnosed with Angelman syndrome.</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>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>Ian was born with cerebral palsy. All he wants is to make friends, although it seems impossible to achieve when discrimination and bullying keep him away from his beloved playground. However, this young boy is determined and won't give up easily. The emotional animated short film shares a story about a boy with a disability called IAN. Ian's mother created IAN foundation to fight against the lack of information and knowledge that often lead people with disabilities to be bullied and isolated. The short Ian rises from the need and goal of this foundation to reach every home with an inclusion message. Sheila, Ian's Foundation founder and works to make society understand that when talking about inclusion there is no time to waste. This award-winning film was written and produced by Gastón Gorali and Oscar winner Juan José Campanella's Buenos Aires-based animation studio took home the top prize at LA Shorts International Film Festival and several major international awards.</p>
<p>A film about rare disease and the parents who are going to the ends of the earth to create hope where none existed.</p>
<p>When Steve and Ann's son Emmett was born they experienced the joy of being new parents. After several month, though, they noticed he wasn't hitting developmental milestones—and found out he had a rare genetic disorder that fewer than 20 people in the world have. Doctors couldn't help. Drug companies couldn't help. They were told there was no treatment for Emmett. So Steve and Ann decided to do the impossible—find one themselves.</p>
<p>Darian just turned 2 in January and is starting to show the signs of the disease. Right now he can still say some words. He can still zip around the park with his walker. For now, he’s hanging on, but just barely. It’s Now or Never for Darian. We are asking you to please help advance treatments for Darian and for all the children and babies suffering from GM1. We need your help for all those who have the incredible misfortune of being born with this truly devastating disease. This ia an URGENT mission and there is no time to lose.</p>
<p>A Boy goes into surgery and battles his disease, which has morphed into a monster in an animated world.</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>Isa is a teenage girl with a rare disease that makes her lose her teeth. Despite this complex, will she get through it and start to smile ?</p>
<p>“Beyond Blue” is a short documentary film capturing Barbara’s story and the challenges she has faced since her diagnosis with polycythemia vera (PV), a rare, chronic blood cancer, more than 20 years ago. The film reveals the hidden struggles that Barbara endures after her PV transformed into myelofibrosis (MF) and underwent a stem cell transplantation. Through it all, Barbara has learned that you are more than your disease.</p>
<p>The documentary "Faces of Lafora" is a film adaptation of a fight for finding a cure for one of the most serious childhood diseases in the world, Lafora disease. This most severe and rarest form of human epilepsy takes lives of children all around the world. Although it has been more than a century since the disease was first described, pharmaceutical companies and public funds were not interested enough in funding the research, because this is a rare disease. All the burden, to fund the research that will help to find a cure for this disease, is on Lafora associations and families around the world whose children are condemned to a death sentence. For each of them, time is running out.</p>
<p>College freshman, Cortney Lavorgna chose to spend her college practicum studying genetics in the Greg Cox laboratory at The Jackson Laboratory. This assignment was more than just school work, for Cortney it was personal. Cortney has a mild form of the rare disease spinal muscular atrophy (SMA) and she was determined to learn more about her disease and what researchers are doing to help combat this debilitating disease.</p>
<p>A young woman struggles with her PGAD in her daily life. Finally she discovers that everything is possible to achieve her goals.</p>
<p>As her mother suffers from a mysterious illness that she intends to hide, the young Cassandre feels a growing presence in her home … What shadow hides in the silence of the dark room?</p>
<p>Identical twins Shay and Finn were born with Pfeiffer Syndrome (Type 3)</p>
<p>Manuel is stuck in a monotonous job, has only one friend that he cannot stand, and his family despises him. Everything will change when the doctor diagnoses him with a rare disease - Manuel is going to turn into an elephant.</p>
<p>In 2018 Rhonda Rowland traveled from the United States to England to meet the doctor who discovered the drug that saved her life. Wilson disease was a fatal disease until Dr. John Walshe discovered penicillamine in 1955. However, the drug didn't work for everyone so he developed a second medication known as trientine. Rhonda also talks with Dr. Walsh's first patient, Shirley Wiley, who was going strong at 79-years-old. Dr. Wilson's son tells Rhonda that his famous father didn't know what caused the disease that's named after him, though he knew it runs in families and suspected a toxin was involved. It was later discovered that WD is a liver disease involving copper metabolism.</p>
<p>Discovering that a child is affected with a degenerative genetic disease – such as Duchenne and Becker muscular dystrophy - provokes a deep emotional crisis in his parents, making their life perspective and expectations suddenly falter. They face a very delicate and difficult moment, being forced to modify the hopes and thoughts they had accrued for their child until then.</p>
<p>An educational video for The Rare Disease United Foundation and Beyond the Diagnosis.</p>
<p>The short film Seeing MS from the Inside Out by Christoph Green is an impactful documentary created in collaboration with Merck as part of an awareness campaign for World MS Day. The film aims to bring visibility to multiple sclerosis (MS) by highlighting its often invisible symptoms, such as fatigue, pain, and cognitive challenges, which can profoundly affect people’s lives yet remain unseen to those around them. By using a mix of personal storytelling and art, Green captures the experiences of individuals living with MS, shedding light on the hidden aspects of the disease and encouraging empathy and understanding from the broader public.</p>
<p>Hope for Haley tells the story of Haley Thelen, a sweet and determined two-year-old living in the Pittsburgh area. Haley is diagnosed with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS). Haley's parents, Melissa and Jeff, detail the struggles living with disease from the perspectives of Haley and themselves, ultimately finding triumph in the situation through the NR2F1 foundation and through the many "inchstones" they see through Haley's journey.</p>
<p>At fifteen, Grace seeks independence and understanding in what role faith and science plays in living with Friedreich's ataxia.</p>
<p>Filmmaker Kyle Anne Grendys, is only the 75th person to be born with the rare, recessive gene disorder called Fraser Syndrome. Having always felt alone in the world, she sets out on a journey to find her community and finally meets others just like her.</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>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>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.</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>"Suellen's Story," directed by Ilene Sussman, follows the journey of Suellen, a woman with von Hippel-Lindau (VHL) syndrome. This rare genetic disorder can lead to the development of tumors and cysts in various parts of the body, such as the kidneys, pancreas, and brain. The film provides an intimate look at her resilience and determination, shedding light on her experiences living with VHL, her medical challenges, and her family's support. By sharing her personal story, Suellen hopes to raise awareness and understanding of VHL, emphasizing the importance of genetic research and patient advocacy for those impacted by rare diseases.</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>The Day the Music Dies by Jonathan Bower is a short film that explores focal dystonia, a neurological disorder that disrupts muscle control, often affecting musicians and their ability to perform. The film follows the emotional journey of an artist grappling with the loss of their musical abilities, highlighting the personal impact and resilience required to cope with this rare condition. Through poignant storytelling, it brings attention to the challenges and emotional toll of living with an often misunderstood disorder.</p>
<p>Go Make Memories, is a short film which hopes to raise awareness of the ultra-rare and devastating group of genetic conditions, Niemann-Pick disease (NPD). By using a mixture of live action and animation the film explores the impact this rare condition has on those affected by it, by following the deterioration of the child and the subsequent emotional turmoil that comes hand in hand with such a diagnosis...especially when this is followed up with the suggestion by the family's doctor to simply, "Go Make Memories".</p>
<p>An extraordinary boy leads the way to finding true happiness in life.</p>
<p>Before Jon Hernandez passed away due to complications stemming from Sickle Cell Anemia, he was writing a horror film he wanted to make with his friends. Upon his untimely death his friends (all whom have their own disabilities) decide to make the film in Jon's honor, even though they have no clue where to start. This is that story.</p>
<p>In an attempt to complete the Seven Summits, a do-or-die mountaineer with a severe bleeding disorder risks his life in order to shine a light upon the disturbing lack of access to life-sustaining medicine around the world.</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>Never has a found letter, a first time read, great timing and a simple dance been combined into one work revealing a true story of loss, love and kindness... Until Now.</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>Breakthroughs in genetic medicine that could transform the lives of patients racing against genetic fate and spell a new future for us all.</p>
<p>The terms sound alike, and they are often used interchangeably. But there are some important distinctions.</p>
<p>Rare is Not an Excuse is a short documentary by filmmaker Jason Cohen. This six-minute film focuses on NGLY1 deficiency, an extremely rare genetic disorder. The story highlights the daily challenges faced by families impacted by rare diseases, offering a glimpse into their resilience and commitment to raising awareness. Cohen’s work sheds light on the broader message that rare diseases, while often misunderstood or overlooked, require just as much attention and research as more common conditions.</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>Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.</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>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>The short film This is Mito by Jon Dorflinger explores the complex world of mitochondrial disease, aiming to raise awareness of this often-overlooked condition. Highlighting the personal stories and daily challenges of those affected, it serves as an educational tool to communicate the realities of mitochondrial diseases, which are challenging to diagnose and have wide-ranging symptoms that impact energy production in cells.</p>
<p>Jon and Allison Muedder’s 3-year-old son, Finn, has a rare genetic disease known as Hunter Syndrome. Children with Hunter Syndrome typically develop normally until sometime between the ages of two and five, and then they begin regressing physically and cognitively. Talking, walking, and eating each slowly fade away, and most of these boys and girls do not live to their tenth birthday.</p>
<p>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 three 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.</p>