2017 Rare Disease Film Festival

<p>What Sick Looks Like, directed by Nerris Nassiri, is a psychological horror film that delves into the complexities of mental illness and trauma. The story revolves around two estranged siblings who reconnect under dire circumstances: one of them is facing a severe illness. As they navigate the tension between them, their shared history reveals disturbing secrets, forcing them to confront the darkness lurking within their family dynamic.<br /> <br /> The film explores themes of grief, guilt, and the emotional impact of chronic illness, creating a suspenseful atmosphere that keeps viewers on edge. It&rsquo;s a slow-burn psychological drama that uses horror elements to illustrate the internal &quot;sickness&quot; within the family unit, showing how unresolved issues and suppressed trauma can be as deadly as any physical disease. The narrative style and cinematography work together to immerse viewers in the unsettling atmosphere, emphasizing the thin line between reality and psychological horror.</p>

<p>Believe, a short film directed by Jay Santangelo, is an inspiring drama that explores themes of resilience, hope, and the power of belief in oneself. The story follows a young person facing overwhelming personal challenges and setbacks, who, despite the odds, finds the inner strength to pursue their dreams. Through encounters with supportive figures and moments of self-reflection, the protagonist learns the value of perseverance and the importance of self-belief, even in the darkest times. Santangelo&rsquo;s film resonates as a heartfelt journey of personal growth, showcasing how faith and determination can lead to transformative change.</p>

<p>The 100,000 Genomes Project &ndash; How We Get Results is a short animated film that provides a concise overview of the groundbreaking 100,000 Genomes Project led by Genomics England. This project aims to sequence genomes from patients with rare diseases and their families, as well as cancer patients, to improve diagnosis and treatment. The film breaks down complex scientific processes, explaining how genome sequencing works and how it can help identify genetic causes of diseases.<br /> <br /> Narrated by Dr. Richard Scott, the film emphasizes the potential of genomics to transform healthcare, offering insights into the ways in which genetic data can guide medical professionals in delivering more precise diagnoses and personalized treatment plans. It serves as both an educational resource and a powerful testament to the advances in genomic medicine, making it accessible to a broad audience interested in medical science and innovation.</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>Life &amp; Atrophy is a poignant documentary that follows the journey of Nikki and Tony McIntosh, parents who are fighting to find experimental treatment for their son, Miles, who has been diagnosed with Spinal Muscular Atrophy (SMA). Directed by Gareth Burghes, the 24-minute film delves into the emotional and physical challenges that come with caring for a child with SMA, a rare neuromuscular disorder that leads to severe muscle deterioration.<br /> <br /> The film not only portrays the family&rsquo;s personal story but also sheds light on the broader medical and ethical questions surrounding SMA treatments, illustrating the lengths to which families will go for a chance at hope and healing. Through candid interviews and intimate moments, Life &amp; Atrophy brings attention to the realities of living with a rare disease, highlighting both the struggles and resilience of families affected by SMA.</p>

<p>The terms sound alike, and they are often used interchangeably. But there are some important distinctions.</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>&quot;Chiari Malformation&quot; is a short film directed by Elizabeth Brubaker and Nerris Nassiri that provides a concise overview of Chiari malformation&mdash;a condition where brain tissue extends into the spinal canal, leading to various neurological symptoms. The film aims to raise awareness about this rare disorder by illustrating its impact on individuals and the challenges they face. Through personal narratives and expert insights, it sheds light on the medical complexities and the emotional toll associated with Chiari malformation. The film was featured in the 2017 Disorder: The Rare Disease Film Festival, highlighting its role in educating the public about this condition.</p>

<p>Rare in Common&quot; 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, &quot;Rare in Common&quot; serves as a poignant reminder of the humanity we share.</p>

<p>&quot;B+&quot; is a short film directed by Nazir Mirzaee that portrays the life of a patient with thalassemia, a hereditary blood disorder characterized by abnormal hemoglobin production. The film follows the patient&#39;s journey from birth to death, highlighting the challenges and experiences associated with managing this condition.</p>

<p>&quot;Saving Sight&quot; is a 21-minute documentary directed by Nate Strubhar that delves into the lives of individuals affected by choroideremia, a rare genetic eye disorder leading to progressive vision loss. The film was featured in the 2017 Disorder: The Rare Disease Film Festival, highlighting its role in raising awareness about this condition. The documentary offers a poignant look at the challenges faced by those with choroideremia and the ongoing efforts in research and treatment to combat this degenerative disease.</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&#39;s a sad, sensitive glimpse that forewarns potential parents of genetic deficiencies they may have in common.</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>In this edition of Ask Hermin, Jillian wants to know what a Urea Cycle Disorder is all about.</p>

<p>In order to defeat the dark manifestation of her cancer, a young girl must use the power of imagination to overcome her fears.</p>

<p>Mar&iacute;a&#39;s routine at school is altered by the arrival of a very special child. Soon, they become close friends.</p>

<p>A family experiences ups and downs while coming to terms with their son&#39;s diagnosis with type 1 diabetes.</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&#39;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>

<p>Four patients with a dramatic, rare disease fight to live normal lives. Faced with a life-threatening condition, they join together to conquer adversity, finding strength in each other and their small but strong community.</p>

<p>The film is a personal statement of the director and his wife, who have to deal with a very rare and incurable disease of their newborn child &ndash; the Ondine&rsquo;s Curse (also known as CCHS, congenital central hypoventilation syndrome). People affected with this disease stop breathing during sleep and require lifetime mechanical ventilation on a ventilator. The film shows the first few months of living together after the diagnosis. At the beginning, the child is still in hospital, but soon he comes home, with all his medical equipment. The film shows the process of taming the fear by the parents and gradually adapting to the new situation.</p>

<p>Degos disease, also known as malignant atrophic papulosis, is a very rare illness that affects a person&rsquo;s blood vessels. When cells in the linings of veins and arteries under the skin become inflamed and swell, this restricts blood flow, resulting in spots or lesions that appear on the skin. The spots on the skin first appear small, red rimmed with a white center, and raised, but over time flatten and become depressed. The blood vessels affected include those that supply the skin, eyes, gastrointestinal tract, heart, bladder, and central nervous system.</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&rsquo;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>SGCH has provided homes and social and economic opportunities to the vulnerable and low income people of NSW for 30 years. This film features the true story of Morgan, who with the help of SGCH rose above a troubled upbringing.</p>

<p>Up For Air explores the human spirit&#39;s fight for survival through the eyes of Jerry Cahill - a 53-year-old pole-vaulter who continues to fight respiratory degeneration, depression and a potentially fatal double-lung transplant. Shot over a period of five years, Up For Air captures the fragility of life with a chronic, fatal illness as it disrupts physical, mental, interpersonal and professional well-being, and how the intersection of dedicated athleticism, self discipline, and community outreach can achieve unprecedented outcomes.</p>

<p>Jon and Allison Muedder&rsquo;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>