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
December to February 2021
all skin diseases
Curator: Piotr Bialas - TataStudio
Gdansk, Poland, 2019
All physical disabilities
Amstelveen, Netherlands, February 2019
Rare and chronic disorders
Rare diseases in dance 
USA, 2018
All physical disabilities
USA, 2018
All rare diseases
Rare diseases in documentaries
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
Maria Hadjidemetriou
USA, 2019
thalassemia
Karina Sturm
Germany, 2019
Ehlers-Danlos
Director: Marcio Souza
Switzerland, 2019
SANDO
Director: Kemal Comert
Italy, 2018
X-Linked Pigmentary Reticulate Disorder
Director: Anne-Dauphine Julliand
France, 2017
Neuroblastoma, Pulmonary arterial hypertension, Epidermolysis Bullosa
Director: Bo Bigelow
USA, 2017
USP7-Related Diseases
Director: Artem Agafonov
USA, 2016
Cystic fibrosis
Director: Natalie Metzger
USA, 2016
Hereditary Angioedema (HAE)
Director: Daniel DeFabio
USA, 2015
Menkes disease
Director: Josh Taft
USA, 2013
Huntington's disease
Director: Eglantine Eméyé
France, 2013
Autism, eplilepsy
Director: Tomasz Śliwinski
Poland, 2013
Congenital central hypoventilation syndrome
Director: Catherine Jayasuriya
USA, 2013
Duchenne muscular dystrophy
Director: Josh Taub
USA, 2013
Charcot Marie Tooth Disorder
Canada, Brazil, Germany, and France, 2013
Fabry disease
Director: Jon Kent
USA, 2011
Williams syndrome
Director: Roger Ross Williams
USA, 2010
Arthrogryposis syndrome
Director: Logan Smalley
USA, 2007
Duchenne Muscular Dystrophy
Director: Talia Osteen
USA, 2006
Leber optic atrophy
Rare diseases on film 
2020, Brazil
2020, France
Syndrome de West
Director: Jason Winer
USA, 2019
Narcolepsy with Cataplexy
Director: Teddy Valentovich
USA, 2017
Rare cancer
Director: Stephen Chobsky
USA, 2017
Treacher Collins syndrome
Director: Josevi García Herrero
Spain, 2017
Mastocytosis
Director: Michael Showalter
USA, 2017
Adult-onset Still disease
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
Director: James Marsh
UK, 2014
Motor neuron disease
Director: Pedro Solís García
Spain, 2014
Director: Shonali Bose
India, 2014
Cerebral palsy
Director: Louise Archambault
France, 2013
Williams syndrome
Director: Rudy Poe
USA, 2012
Niemann-Pick Type C
Director: Valérie Donzelli
France, 2011
Childhood cancer
Director: Jonathan Levine
USA, 2011
Schwannoma neurofibrosarcoma
Director: Tom Vaughan
USA, 2010
Pompe disease
Director: Sanjay Leela Bhansali
India, 2010
Quadriplegia
Director: R. Balakrishnan
India, 2009
Hutchinson-Gilford progeria syndrome
Director: Julian Schnabel
France, 2008
Locked-in syndrome
Director: Mary Stuart Masterson
USA, 2007
Friedreich's ataxia
Director: Jonathan Karsh
USA, 2003
Different disabilities
Director: Gary Winick
USA,1998
Tourette syndrome
Director: Peter Chelsom
USA, 1998
Morquio A
Director: George Miller
USA, 1992
Adrenoleukodystropy
Director: Jim Sheridan
Ireland, 1989
Cerebral palsy
Director: Peter Bogdanovich
USA, 1985
Craniodiaphyseal Dysplasia
Director: David Lynch
USA, 1980
Proteus Syndrome
Director: Randal Kleiser
USA, 1976
Severe combined immunodeficiencies (SCID)
Director: Sam Wood
USA, 1943
Amyotrophic lateral sclerosis
Rare disease film festivals
The Extraordinary Film Festival
Belgium, 7-11 November 2019
USA, TBC 2019
Rome, Italy, 31 January - 3 February 2019
Rare diseases in literature
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
Hemophilia
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
Ehlers-Danlos
Seltene Krankheiten
Manuela Stier, Daniela Schmuki, Simon Starkl
2019
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'
2019
Wide Awake and Dreaming: A Memoir of Narcolepsy
Julie Flygare
USA 2019
Narcolepsy
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
2019
McCune-Albright
The Wish Sisters
Carol Zapata-Whelan
USA, 2019
FOP Friends
UK, 2019
Fibrodysplasia ossificans progressiva (FOP)
Shari and André Dietz
Germany, 2019
Angelman syndrome
Merve Deniz Pak
Turkey, 2019
Behcet's Disease
Özgür İnce, Merve Deniz Pak
Turkey, 2019
All rare Diseases
Karen Aiach
France, 2019
Sanfilippo type A
Roberto Ferrero Gómez
Spain, 2018
All rare diseases
Annette Fournier
USA, 2018
Chromosome abnormalities
Dr. Stephen Calculator
USA, 2018
Angelman Syndrome (AS)
Loïc Ballet, Patrick Ballet et les Amis d'Anna
France, 2018
Giant congenital melanocytic nevus and all visible congenital rare diseases
Caroline Pistinier
France, 2018
Fibrodysplasia ossificans progressiva
Aditi Kantipuly
India, 2018
Veronica Popa
Digital, 2018
Allan-Herndon-Dudley syndromch
Jennifer Latson
USA, 2017
Williams syndrome
Mireia Monfort and Chica con Flequillo
Spain, 2016
Phelan McDermid syndrome
Michael A. Boylan
USA, 2016
William’s Syndrome
Regina Nagel
Germany, 2015
Pediatric heart malformation
Isabel de Ron
Spain, 2015
Mastocytosis
Eglantine Eméyé
France, 2015
Autism, eplilepsy
Sean Hepburn Ferrer
Uruguay, 2014
McCune-Albright syndrome
Anne-Dauphine Julliand
France, 2014
Metachromatic leukodystrophy (MLD)
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: 08/01/2021