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The Rare Disease Filmfestival Finalists

The Rare Disease Film Festival 2021 is an opportunity to shine a spotlight on rare diseases – raising awareness for patients and all those affected.


Project Title

Synopsis

Figaro

A young actress tries to show her talent in an audition, but there is always something standing in her way!

COUNTRY: Greece

DIRECTOR: Dimitris Andjus

Timothy Syndrome Alliance

Our mission:
To support Timothy Syndrome & all other deleterious CACNA1C gene change families through education, shared experience & research.
Creating awareness on all aspects of Timothy Syndrome among the general public, medical & research communities.

COUNTRY: United Kingdom

Go Make Memories

Go Make Memories, is a short film that hopes to raise awareness of the ultra-rare and devastating group of genetic conditions known as Niemann-Pick disease (NPD). The experiences of the individuals and families affected by NPD take center stage in this production, which has been developed by Director/Producer Carl Mason and NPUK Communications Officer John Lee Taggart, in direct collaboration with the lovely individuals and families our charity, NPUK, represents.is a short film that hopes to raise awareness of the ultra-rare and devastating group of genetic conditions known as Niemann-Pick disease (NPD). The experiences of the individuals and families affected by NPD take center stage in this production, which has been developed by Director/Producer Carl Mason and NPUK Communications Officer John Lee Taggart, in direct collaboration with the lovely individuals and families our charity, NPUK, represents.

By using a mixture of live action and animation, the film explores the impact this rare condition has on those affected by it. The film follows 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".

COUNTRY: United Kingdom

DIRECTOR: Carl Mason

My Daughter Yoshiko

With her daughter Yoshiko diagnosed with Autism Spectrum Disorder, and her husband overseas serving in the military, Saki Omura is finding it harder and harder to cope. Too ashamed to burden others and too proud to ask for help, Saki faces the now-daunting task of giving her daughter the best life possible.

COUNTRY: United States

DIRECTOR: Brian Blum

Carlotta's Face

As a child, Carlotta didn’t expect the people around her to have faces. She doesn’t even recognize her own face. Years later, she learns about a rare, untreatable deficit of her brain. It was art, after all, that offered her a way to finally recognize herself.

COUNTRY: Germany

DIRECTORS: Valentin Riedl, Frédéric Schuld

Bertha and the Wolfram

Meet Bertha, a 13-year-old Belgian girl fighting every day against her ultimate enemy: Wolfram. Wolfram is a rare disease that affects her nervous system with major consequences on her eyesight. To fight Wolfram, Bertha has her own secret weapon: creativity. When she paints, it’s as if her brush becomes a sword that she carefully uses to create extraordinary paintings - and control Wolfram. Together with a renowned Belgian painter, they create inspiring paintings that they sell at the Eye Opener, a yearly fundraising art exhibition.

COUNTRY: Belgium

DIRECTOR: Tijs Torfs

Beyond Words

Beyond Words follows the Ng family on their journey caring for their 13-year-old daughter Amelia, who has a rare degenerative condition. The film centers around the strong relationships that hold the family together, in particular Amelia’s bond with her older sister, Amanda. Amanda chose to be homeschooled to spend more time with Amelia, and also dedicates her time to advocating for those with special needs and their siblings.

COUNTRY: Singapore

DIRECTOR:Chang Hui Bin, Amanda

My name is Petya

On a deep winter night, a mother with two young children is admitted into an isolation ward of an infectious disease hospital. There, strange things begin to happen to the heroine that turn her life around.

COUNTRY: Russian Federation

DIRECTOR: Daria Binevskaya

I Too Am A Lucky Man - Living With Parkinson's Disease

My grandpa Rick is an educator, a family man, an avid hiker, a photographer, and one of my favorite people on the planet. He also has Parkinson's disease. "I'm not Parkinson's, but Parkinson's is a part of me".

COUNTRY: United States

DIRECTOR: Grace Patterson

Learning to Walk with Theodor

In this film, Astrid Eldflug tells the touching story of her son Theodor. A 6-year-old boy walking in the garden – what seems to be normal for other kids at his age is a real miracle for Theodor. He is missing a part of Chromosome 5, which is called 5q14.3 deletion syndrome and nobody has ever thought he would be able to walk. During the first 2.5 years of his life he did not progress at all. He could not open his hands, could not grab toys, was unable to roll to his side, and could not hold his head. He hardly moved. But his mother has never given up her trust and hope in Theodor’s abilities. Thanks to her deep commitment and thanks to finding a special kind of movement-based therapy, Theodor has developed in miraculous ways. He took his first steps in 2019 and is surprising his mother day after day. This film beautifully documents how a severely challenged child can progress far beyond his limitations. It pushes the borders of medical prognoses and shows how the impossible becomes possible if there is someone who trusts in the child’s abilities. This film is a unique documentary presenting the child’s development from birth to his first steps, building awareness not to take normal development for granted. It is a film full of hope, love, and inspiration.

COUNTRY: Austria

DIRECTOR: Astrid Eldflug

Party

Giro, a college student suffering from 465 syndrome (a hypothetical disease), finds out from her friend Yoo Young. Yoo Young, vice chairman of the 465 patient support group, will take more relief later. Giro doesn't like that.

COUNTRY: Korea, Republic of

DIRECTOR: Lee Ga-eun

Buonanotte/Goodnight

Milan under Covid-19 lockdown: a day in the life of a homeless video maker.

COUNTRY: Italy

DIRECTOR: Yohana Ambros

HEROES OF MATHARE

In Mathare, the second largest slum in Kenya's capital city of Nairobi and one of the largest slums in Africa, the biggest defences against the spread of COVID-19 - social distancing and frequent hand washing - are nearly impossible. Families cluster in 10-foot-by-10-foot shacks and residents share one toilet with 50 to 150 people. Water and sanitization are scarce.

COUNTRY: Kenya

DIRECTOR: Tony Ngige

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 of notes on his computer, a guitar suspended from the ceiling, and help from friends and family.

Dustin briefly chronicles his history with Muscular Dystrophy, what has inspired him to keep creating, his current musical process, and his hopeful view of the future.

COUNTRY: United States

Mike's Words

A man with a rare physical disability makes films that focus on the social aspects of being a minority.

COUNTRY: United States

DIRECTOR: Jared Jacobsen

Beatriz

Every year, a team of doctors, dentists, and volunteers from different parts of Brazil gather for a trip of approximately 24 hours from the city of Belém to Ilha de Iracema, located in a riverside area in the Amazon on the banks of the Pacajá River in Pará. For three days, the group serves families from riverside communities without access to health posts and hospitals.

Get to know Beatriz's story.

COUNTRY: Brazil

DIRECTORS: Diego Imai, Ricardo d'Avila

Surviving Noma

Noma is a gangrenous infection, starting in the mouth, caused by extreme poverty, malnutrition, and poor hygiene. In just two weeks, it destroys the tissues of the face and might kill up to 90 percent of the people affected. The World Health Organization estimates it affects 140,000 people every year. At the Noma Hospital in Sokoto, Nigeria, disfigured survivors find a unique place to heal their wounds. While they suffer from pain and discrimination, they are on a life-changing journey to overcome years of isolation.

COUNTRY: France

DIRECTORS: Claire Jeantet, Fabrice Catérini

Pampeliška

My grandfather has Alzheimer's, my grandmother loses her memory because of old age. This film accompanies them and reflects on the mental fog that settles on them. Far from being a scientific explanation, this short documentary is an experience, an immersion in the dynamics of consciousness and identity being consumed by time, illness, and age. The memory arrives to not stay.

COUNTRY: France

DIRECTOR: Allan Laurent Colin

In The Glass House

What does your inner world look like? What rooms do you flee to when the outside world is unbearable? How does this world smell? Does it smell like traces of human scent? How do you connect your inner world with the outer world?

A documentary not only about those who ask themselves these questions every day. A film not only about autism spectrum disorder or Asperger's syndrome, but about all of us. Every human being has autistic traits. Everyone has their inner world, their perception, their glass house.

COUNTRY: Germany

DIRECTOR: Anna Zhukovets

Walk in my shoes

This film tells the story of the life of a Cystinosis patient through the eyes of the patient, family, and friends in the community. It not only speaks to the Cystinosis community but the entire rare disease community. It is a film about hope, perseverance, and the desire to have a positive quality of life. Chandler Moore is 14/15 years old and lives with the disease in a small town in rural Delaware with his parents, Clint and Annie. He is the only person in his state with the disease. Throughout the film, we see Clint (the father) transition from fear and denial to the power that drives this family to fight this disease.

COUNTRY: United States

DIRECTOR: Richard Hemmingway

Fighting MSA - Austin Crawford's Story

Austin Crawford is diagnosed with a terminal neurological disease that is so rare there's no treatment or cure. This informative and heartwarming documentary is filled with emotion from beginning to end. Follow the journey of how Austin learns that hope still exists.

COUNTRY: United States

DIRECTOR: Phil Gioja

A Story of Courage

Ariana Feiner shares her story with her rare metabolic condition, Hypoparathyroidism. She spreads her message of hope through her work with her children’s book for kids with chronic health conditions, Ariana Rose: A Story of Courage. Ariana exemplifies that it is not our obstacles that define us; it's the way we face them.

COUNTRY: United States

DIRECTOR: Ariana Feiner

How to describe the size of a plane?

Przemek takes on his first-and-final bicycle trip. Due to a rare genetic disease, he is gradually losing his eyesight and will be blind in a few years. Coming to terms with his inevitable future turns out to be tougher than the hardship of his challenge. While this adventure and the people he meets along the way enrich him, he finds no relief to his great loneliness. Soon he will be again trapped at home, with nothing more than an exercise bike, recalling memories of his achievement.

COUNTRY: Poland

DIRECTOR: Szymon Jan Sinoff

The Kids Are Still Here

The Kids Are Still Here is a documentary short film about communities in Northern Uganda affected by nodding syndrome - a rare and deadly disease that's been infecting children since the 1960s.

COUNTRY: United States

DIRECTOR: Christopher Ninness

Los días que pasan

Los días que pasan tells the story of confinement through the eyes of Leo, a 4-year-old boy who does the same things every day with his little sister Olivia. The short film narrates with documentary technique the different apparently simple, but deep down very complex, situations due to the Coronavirus health crisis.
The narrative is guided by the voice of the child, with minimal interference, in order to tell the story from his view. Leo's situation is the same as that of millions of people currently confined in Spain and in much of the world allowing many to related to Leo’s experience.

COUNTRY: Spain

DIRECTOR: Antonio Savinelli

NAM

'Nam’ tells the story of Adam, a young man being treated in the Bruckner family home for his inability to speak and comprehend language. The film offers a portrait of family life in the 1950s and examines how its members orient themselves around a man's languageless condition.

COUNTRY: United States

DIRECTOR: Niccolò Corti

This is not a person

Elisenda is a woman with a rare disease called osteogenesis imperfecta, who has always led a very protected life. Now she has decided to make some changes that she and her family will need to learn how to live with.

COUNTRY: Spain

DIRECTORS: Miguel Rodriguez, Pablo Ostarek

Accelerate

A runner is unable to pursue his passion for speed because of a rare heart disease and struggles to either accept or fight his disability.

COUNTRY: Netherlands

DIRECTOR: Joshua van ’t Hoff

An unexpected journey

In our Western world, the arrival of a child is good news. Joy, illusion, future plans. But what happens when the child who arrives is not what we thought? What happens when it is not the perfect and healthy baby we expected? What happens if the baby is sick?

COUNTRY: Spain

DIRECTOR: Maria Guerra

Oxygen

Marta soon told her boyfriend what was happening to her. She has a degenerative and incurable disease that requires a lot of treatment in the form of physical exercises and drugs. It affects her life in all aspects: work, personal, social. How can you live with that burden? Can you be happy?

COUNTRY: Spain

DIRECTOR: Luis Murillo Arias

I still can't make it

At the age of 21, I was diagnosed with a chronic autoimmune disease. Today, 8 years later, I still cannot regularly take the medication I need to live.

COUNTRY: Argentina

DIRECTOR: Elena Bursztein

Pain: Stories of fibromyalgia

A documentary focused on capturing the daily struggle against fibromyalgia and how it affects patients in the long term using a dogma95 aesthetic and a structure that aims to capture the raw essence of what it's like to live with the disease.

COUNTRY: Portugal

DIRECTORS: João Ribeiro, Mauro Soares, Débora Andrade, Simão Pereira, Diogo Romão, Alicia Chinita, Leonardo Silva

PH1 of a Kind

PH1 of a Kind is a 4-part video series starring Isabelle, Luuk, Asha, and Will — kids from around the world who have been diagnosed with primary hyperoxaluria type 1 (PH1). Having this rare genetic disease means that some of their daily experiences are different from that of other kids, but PH1 doesn't define them — they’re special because of who they are. Each video explores a different aspect of living with PH1, including how it impacts the body, feelings of isolation, and the ability to talk about their condition with their peers. PH1 of a Kind was developed in partnership with the Oxalosis and Hyperoxaluria Foundation (OHF) for school-age children based on the insight that there was no child-friendly information/content available about this disease.

PH1 is an ultra-rare genetic liver disease that typically presents in childhood. It causes severe damage to the kidneys and other organs and ultimately leads to the need for dialysis and a dual liver/kidney transplant.

COUNTRY: United States

DIRECTOR: Seth Levine

Covid Antidote

A super short film about the COVID-19 pandemic and the measures being taken by people who want to survive it.

COUNTRY: Russian Federation

DIRECTOR: MARAT VALERIEVICH NARIMANOV

Lighthunger

Lighthunger. A typical symptom of patients, who suffer from Lebercongenital amaurosis, LCA for short. They are born with eyesight, but bit by bit they will lose it. Laika has LCA. Today she lives alone, came to terms with the situation, and wants to stay inconspicuous. Yet nobody knows her dark past. Nobody has seen her hidden strength. Nobody knows that she only seeks one thing: revenge.
All earnings from the film and the DVD are donated without exception to the PRO RETINA Deutschland e.V. foundation. PRO RETINA supports people with visual impairment.

COUNTRY: Germany

DIRECTOR: Lukas Kellner

Guilt with rare disease - genetic transmission: am I responsible?

80% of rare diseases are genetic. When faced with a genetic condition, several scenarios arise when it comes to having children. Either we decide to have children despite having the disease, or we choose not to have any in fear of transmitting the disease, or we transmit the disease completely unaware that we have an affected gene. In this video, we hear from affected patients and relatives who share their experiences and feelings on the subjects. Professionals also voice their reflections on guilt and give advice.

COUNTRY: France

DIRECTORS: Alan Castejon, Philippe Larrouy

Spacious

The animated documentary short film „Spacious“ deals with “Aphantasia“, a condition that prevents people from being able to visualize imagery. The story was created based on a survey conducted amongst people living with Aphantasia and aims to provide an insight into this unique way of perceiving the world.

What does it look like to not have a visual imagination? To bring across the feeling of an inner world without images, this film makes use of the depth created by a black screen, combined with digital 2D images whose fleetingness aims to mirror the surreal being of mental imagery. The visual world is accompanied by a narrator who leads the audience through a life with Aphantasia. This results in an interplay between what is seen, what is heard, and the audience’s imagination.

„Spacious“ hopes to give a voice to a different way of experiencing the world. How do others visualize? And how do I even visualize? Questions that are meant to accompany the audience after viewing this film and that encourage a new perspective on one’s surrounding, as well as oneself.

COUNTRY: Germany

DIRECTOR: Pauline Muszi

Bastaa

Bastaa is a Garhwali short film based on the migrant labor crisis during the COVID-19 pandemic in India. Abhay, a young boy with big aspirations and dreams, has to give up on everything because of the hardship that followed due to the lockdown.

COUNTRY: India

DIRECTOR: Pulkit Tomar

Menkes Disease: Finding Help & 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 who get treatment in the first ten days of life can have long and relatively normal 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.

COUNTRY: United States

DIRECTOR: Daniel DeFabio

Good Days, Bad Days, Rare Days

Eleven families discuss their struggles with eight different rare diseases.

COUNTRY: United States

DIRECTOR: Daniel DeFabio

One In 50 MIllion

Nawaal Akram is a stand-up comedian who navigates life with Duchenne Muscular Dystrophy, a genetic disorder characterized by aggressive muscle degeneration extremely rare in females, affecting only one in 50 million. Nawaal was diagnosed with DMD at age 7 and was forced out of school at 11 for being a liability; now she is a cosplayer, mermaid, and stand-up comedian, as well as a disability rights and DMD awareness activist. Her debilitating health does not appear to affect her energy and zest for life, but her body has already started to fail her. At 21 years old, she’s very conscious of her imminent fate and lives more intensely than ever.

COUNTRY: Qatar

DIRECTOR: Luciana Ceccatto Farah

so quiet so loud

The film „so quiet so loud“ follows the 4 year old Maja in her everyday life. Next to her playing, drawing, and crawling all day long, she also must visit the hospital and join learning enhancement activities, because she suffers from cancer and has a special form of trisomy 19. To get to know the person beyond their diagnosis, the film does not focus on her physical features but is dedicated to the smaller moments of her life. The observational style of the film gives an intimate inside view of the life of a family and shows how love, understanding, and patience can shape a child's life.

COUNTRY: Germany

DIRECTOR: Hannah Wolny

S. SANKARA RAMAN - The Man, The Myth, The Legend

A look into the life of a social worker affected by Muscular Dystrophy, Shri S. Sankara Raman. A man who is one of the pioneers in creating a cross-disability movement in India, encouraging people with different disabilities to work on common and collective solutions.

COUNTRY: India

DIRECTOR: Arin Paul

Lumen

Lumen (meaning light in Latin) is a sensorial film shot in Super 8, which paints a portrait of an adolescent girl with albinism. The hypersensitivity that this genetic condition engenders and the lack of pigmentation in her skin and eyes lend her an extraordinary aura. This film echoes a series of photographs entitled Fovea, which takes as its subject visually impaired people.

COUNTRY: Canada

DIRECTOR: Sarah Seené

One in a million

'One in a million' is the inspirational story of Anya and her parents, as they try to create happy memories in the face of Anya's relentless and ultra-rare neurological condition. This short documentary film, from Owen Cant and Cosmic Joke, explores the traumatic period of diagnosis and subsequent ways in which a family must adapt to an unpredictable disease on which very little research is conducted and as yet has no cure.

DIRECTOR: Owen Cant

Cha(lle)nges

It is estimated that one in a thousand people are born with Chiari Malformation. Most of them are diagnosed after years of symptoms and misdiagnoses. Like me.

This is a fragment of the month between the bittersweet feeling of having an answer after years of suffering uncertainty and my brain surgery, during quarantine.

COUNTRY: Argentina

DIRECTOR: Pilar Ferrero

Fraser Syndrome & Me

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.

COUNTRY: United States

DIRECTOR: Kyle Anne Grendys

About Living

The way a child will face life depends a lot on how the mother shows him or her. Accepting a disease begins in the mother's arms. Everything that is rare is difficult for most to understand. It is up to the experts on the subject to provide information so that the improved understanding reduces the suffering of rare disease patients and their families. Knowledge brings understanding that awakens empathy, which in turn leads to compassion and a desire to include and love.

About Living shows the growth of a family with Rickets XLH and how love overcomes their challenges.

COUNTRY: Brazil

DIRECTOR: Thatiana Moraes

Troubled Water

What to do when your body eats you up? When the fight against yourself overshadows your daily routines, your relationships, and your freedom? It's about fighting autoimmune diseases and inner demons.

COUNTRY: Germany

DIRECTOR: Elena Wiener

Got Cancer! - Survivors Journey

When cancer strikes at a tender young age there is a huge ambivalence about what survivorship means to the one dealing with cancer and for those offering support.

This journey using the technical prowess of a mix of animation, stop motion and real life documentary will touch you aesthetically, amaze you with the seamless flow across boundaries of 2D, 3D, and 4D and mostly leave you touched by the simplicity and power of the words of these inspiring youth who braved the jaws of childhood cancer. The film depicts the strength, perseverance, endurance, and wisdom that an impact to life by this disease or any traumatic event that shifts our core and reality can bring. In this era, we have all in our own personal journeys become survivors, we are battling demons outside and within every day and surviving them based on our own will to survive. Survivorship teaches us that we are our own saviors - it makes you want to stand up and scream - I AM - the Hero of my own story.

COUNTRY: United States

DIRECTOR: Ruhi aka Rohini Hak

Immunity

Immunity is a documentary on the life of adult patients with primary immunodeficiency and on their resilience in spite of their condition. Matteo Pellegrinuzzi, a photographer living in Paris, has been affected by a primary immunodeficiency since birth. A bike enthusiast, on July 2019, he decides to undertake a challenge against himself and his condition: riding the 270 km that separate Paris from London in less than 24 hours to bring a message of hope to other patients and their families and to raise awareness on primary immunodeficiencies. The film follows the 8 months of preparation for this venture and is intercalated with the life of three other patients and their daily life.

COUNTRY: France

DIRECTOR: Sara Grimaldi

Early Intervention

Early intervention is a collection of therapy and support services that are provided to children under the age of six who are born with disabilities or are at risk for developing them. It helps them to rehabilitate into society, while significantly improving the quality of their life and their ability to have a well-adjusted life within a community.

COUNTRY: India

DIRECTOR: Arin Paul