Rare diseases in the arts

If you know about a film, book or event that features a rare disease that could be added to this page please contact anja.helm@eurordis.org

Rare diseases in art

Art contest - Sensitive skin

December to February 2021
all skin diseases

Understanding the Hero

Curator: Piotr Bialas - TataStudio
Gdansk, Poland, 2019
All physical disabilities


Amstelveen, Netherlands, February 2019

Rare and chronic disorders

Rare diseases in dance 

NYCBallet Access Programs

USA, 2018
All physical disabilities

Rare World: Investigating Social Support in Rare Disease and Common Chronic Illness Communities

USA, 2018
All rare diseases

Rare diseases in documentaries

Mr Hand Solo

Héctor Romance

Poland Syndrome

Locked In: Breaking the Silence

Director: Xavier Alford
Film debuts 2pm GMT on 30 November 2020

Register now: Join an exclusive online Q&A with the filmmakers and special guests at 6pm GMT after the premiere - The Q&A will have BSL interpreters and live captions

UK, 2020
Guillain-Barré syndrome

Life Without Boundaries

Maria Hadjidemetriou
USA, 2019

Positive Care

Karina Sturm
Germany, 2019

SANDO illness from the inside out

Director: Marcio Souza
Switzerland, 2019

Director: Kemal Comert
Italy, 2018
X-Linked Pigmentary Reticulate Disorder

Director: Anne-Dauphine Julliand
France, 2017
Neuroblastoma, Pulmonary arterial hypertension,  Epidermolysis Bullosa

Tess Is Not Alone: A USP7 Story

Director: Bo Bigelow
USA, 2017
USP7-Related Diseases

Up for Air

Director: Artem Agafonov
USA, 2016
Cystic fibrosis

Special Blood

Director: Natalie Metzger
USA, 2016
Hereditary Angioedema (HAE)

Menkes Disease: Finding Help & Hope

Director: Daniel DeFabio
USA, 2015
Menkes disease

Alive & Well

Director: Josh Taft
USA, 2013
Huntington's disease

Mon fils, un si long combat

Director: Eglantine Eméyé
France, 2013
Autism, eplilepsy

Our Curse

Director: Tomasz Śliwinski
Poland, 2013
Congenital central hypoventilation syndrome

Dusty’s Trail: Summit of Borneo

Director: Catherine Jayasuriya
USA, 2013
Duchenne muscular dystrophy


Director: Josh Taub
USA, 2013
Charcot Marie Tooth Disorder

Facing Fabry Together

Canada, Brazil, Germany, and France,  2013
Fabry disease


Director: Jon Kent
USA, 2011
Williams syndrome

Music by Prudence

Director: Roger Ross Williams
USA, 2010
Arthrogryposis syndrome

Darius Goes West: the roll of his life

Director: Logan Smalley
USA, 2007
Duchenne Muscular Dystrophy


Director: Talia Osteen
USA, 2006
Leber optic atrophy


Rare diseases on film 

Save Sandra

2021, Belgium
Metachromatic leukodystrophy

Un Vie Démente

2021, Belgium
semantic dementia

O Festival Raridades

2020, Brazil


2020, France
Syndrome de West

Ode to Joy

Director: Jason Winer
USA, 2019
Narcolepsy with Cataplexy

The Adventures of Lucy

Director: Teddy Valentovich
USA, 2017
Rare cancer


Director: Stephen Chobsky
USA, 2017
Treacher Collins syndrome 

Contando Estrellas

Director: Josevi García Herrero
Spain, 2017

The Big Sick

Director: Michael Showalter
USA, 2017
Adult-onset Still disease

Brain on fire

Director: Gerard Barrett
USA, 2016
anti-NMDA receptor encephalitis


Director:  Vibeke Idsoe
Norway, 2016
Hypertrichosis lanuginosa congenita 


Director: Carl Mason
USA, 2015
Neimann-Pick type C

The Theory of Everything

Director:  James Marsh
UK, 2014
Motor neuron disease

Cuerdas (Strings)

Director: Pedro Solís García
Spain, 2014

Margarita With a Straw

Director: Shonali Bose
India, 2014
Cerebral palsy


Director: Louise Archambault
France, 2013
Williams syndrome

Here. Us. Now

Director: Rudy Poe
USA, 2012
Niemann-Pick Type C

La Guerre est Déclarée

Director: Valérie Donzelli
France, 2011
Childhood cancer


Director: Jonathan Levine
USA, 2011
Schwannoma neurofibrosarcoma

Extraordinary Measures

Director: Tom Vaughan
USA, 2010
Pompe disease 


Director: Sanjay Leela Bhansali
India, 2010


Director: R. Balakrishnan
India, 2009
Hutchinson-Gilford progeria syndrome

Le Scaphandre et le Papillon

Director: Julian Schnabel
France, 2008
Locked-in syndrome

The Cake Eaters

Director: Mary Stuart Masterson
USA, 2007
Friedreich's ataxia

My Flesh and Blood

Director: Jonathan Karsh
USA, 2003
Different disabilities

The Tic Code

Director: Gary Winick
Tourette syndrome

The Mighty

Director: Peter Chelsom
USA, 1998
Morquio A

Lorenzo's Oil

Director: George Miller
USA, 1992

My Left Foot

Director: Jim Sheridan
Ireland, 1989
Cerebral palsy


Director: Peter Bogdanovich
USA, 1985
Craniodiaphyseal Dysplasia

The Elephant Man

Director: David Lynch
USA, 1980
Proteus Syndrome

The Boy in the Plastic Bubble

Director: Randal Kleiser
USA, 1976
Severe combined immunodeficiencies (SCID)

The Pride of the Yankees

Director: Sam Wood
USA, 1943
Amyotrophic lateral sclerosis

Rare disease film festivals

International Rare Disease Filmfestival

Germany (virtual), 28 Februrary 2021

The Extraordinary Film Festival

Belgium, 7-11 November 2019

Disorder: The Rare Disease Film Festival

USA, TBC 2019

Festival A Rare Look

Rome, Italy, 31 January - 3 February 2019 

Rare diseases in literature

As Escolhas que Fazemos

Madalena Rosa
Portugal 2022
CHARGE syndrome

Hunger Syndrome: A Maternal View of Prader-Willi Syndrom

Cláudia Abel
Brazil 2021
Prader Willi Syndrome

Wheelchairs Never Again: The Rare Disease Cure Experience Acute Intermittent Porphyria

Helena Lopes
Acute Intermittent Porphyria

CARE, cuidar importa

Ana Álvarez-Errecalde
Spain 2020
Motherhood and Disability

BACKPACKING for Behcet's Disease Awareness: Adventures, Misadventures & Gear Recommendations
Cindy Todd
Independently published 2020
Behcet's Disease

Surviving hemophilia, A road trip through the world of healthcare
Cees Smit
Netherlands 2020

La piccola aliena del pianeta 1p36. Ediz. a colori
Roberta Zoli
Italy 2020
1p36 syndrome

FPIES  – The Mystery that Made My Brother Sick
Corrie Barrie , Alanna Ping
English, 2019
“f-pies” – food protein-induced enterocolitis syndrome

Bobby B. Button and His Magic Button
Amy J. Magyar, Robert Beufford Barronbakomeul
English, 2019
Rare Urea cycle condition

Come oro nelle crepe
Gioia Di Biagio
Italy, 2018

Seltene Krankheiten
Manuela Stier, Daniela Schmuki, Simon Starkl
all rare diseases

From Ironman to Wheelchair and Back (English Edition) – The Story of a Round Trip
Oliver Brendel
Germany 2016, ebook 2019
Guillain-Barre syndrome

Patient Engagement: How Patient-provider Partnerships Transform Healthcare Organizations
Including chapter by Yann Le Cam, EURORDIS Chief Executive Officer, on 'Expert by Experience: Valuing Patient Engagement in Healthcare'

Wide Awake and Dreaming: A Memoir of Narcolepsy
Julie Flygare
USA 2019

Chasing My Cure: A Doctor's Race to Turn Hope Into Action
David Fajgenbaum
USA 2019
Castleman disease

Our baby has sixty-five roses
Eilis Moroney
Ireland, 2019
Cystic fibrosis

Hei de Vencer: A história de José Léda
Hulda Rode
Brazil 2019
Amyotrophic lateral sclerosis (ALS)

The Magical Life of Mauricio Saravia
María Eloísa Damele

The Wish Sisters
Carol Zapata-Whelan
USA, 2019

Supporting a child with FOP: a practical guide to their learning journey

FOP Friends
UK, 2019
Fibrodysplasia ossificans progressiva (FOP)

Alles Liebe- Familienleben mit einem Gendefekt

Shari and André Dietz
Germany, 2019
Angelman syndrome

The voice of Behçet's disease Patients

Merve Deniz Pak
Turkey, 2019
Behcet's Disease

Rare Diseases

Özgür İnce, Merve Deniz Pak
Turkey, 2019
All rare Diseases

Mother is there

Karen Aiach
France, 2019
Sanfilippo type A

The indigo stork / La Cigüeña Añil

Roberto Ferrero Gómez
Spain, 2018
All rare diseases

Chromosome Kids Like Me

Annette Fournier
USA, 2018
Chromosome abnormalities

So Much To Say

Dr. Stephen Calculator
USA, 2018
Angelman Syndrome (AS)

Tous En Piste

Loïc Ballet, Patrick Ballet et les Amis d'Anna
France, 2018
Giant congenital melanocytic nevus and all visible congenital rare diseases

La prophétie de Dysplasia

Caroline Pistinier
France, 2018
Fibrodysplasia ossificans progressiva

The Zebra Alphabet

Aditi Kantipuly
India, 2018

Little Sundrop and the Unnamable Terrible Evil

Veronica Popa
Digital, 2018
Allan-Herndon-Dudley syndromch

The Boy Who Loved Too Much

Jennifer Latson
USA, 2017
Williams syndrome

El poder de una sonrisa

Mireia Monfort and Chica con Flequillo
Spain, 2016
Phelan McDermid syndrome

Reach for Me: The Story of My Son Connor

Michael A. Boylan
USA, 2016
William’s Syndrome

Lea Löwenherz

Regina Nagel
Germany, 2015
Pediatric heart malformation 

La constelación Pica Pica

Isabel de Ron
Spain, 2015

Le voleur de brosses à dents

Eglantine Eméyé
France, 2015
Autism, eplilepsy

Mauricio of Uruguay

Sean Hepburn Ferrer
Uruguay, 2014
McCune-Albright syndrome

Deux petits pas sur le sable mouillé

Anne-Dauphine Julliand
France, 2014
Metachromatic leukodystrophy (MLD)

A particular day

Anne-Dauphine Julliand
France, 2014
Metachromatic leukodystrophy (MLD)


RJ Palacio
USA, 2012
Treacher Collins Syndrome 

Rare diseases on podcasts 

RARE/D podcast series

Univeristy of Manchester
UK, launched 2019
All rare diseases

Rare diseases in music

Ondinata. Songs for Ondine

Magda Hueckel and Tomasz Śliwiński, founders of the Polish CCHS Foundation
With contributing artists around the world, 2021
Congenital Central hypoventilation syndrome

Page created: 09/03/2018
Page last updated: 03/06/2022
A voz das pessoas com doenças raras na EuropaEURORDIS A voz internacional das pessoas com doenças raras, Rare Diseases InternacionalRare Disease International Reúne doentes, famílias e especialistas para partilhar experiências num fórum multilinguístico. RareConnect O programa Rare Barometer é uma iniciativa da EURORDIS para a realização de inquéritos para transformar a experiência das pessoas com doenças raras em números e factos que podem ser partilhados com os responsáveis pela tomada de decisões.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Adira ao maior encontro europeu das partes interessadas no âmbito das doenças raras na Conferência Bienal Europeia sobre Doenças Raras e Produtos Órfãos. A ECRD é uma iniciativa da EURORDISEuropean Conference on Rare Diseases