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Updated by Emma Casey Rooney on Aug 22, 2017
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Rare Disease Patient Stories

This list has been started to promote voices from the rare disease community and make it easier to find and share stories from around the world. To grow the list, add your favorite rare disease story sites. You can also contact @blumencasey on Twitter or at the My Normal Project to make list suggestions or updates.
List maintained by My Normal Project. Visit us at


Acid Maltase Deficiency Association (AMDA), Meet the Patients

The Acid Maltase Deficiency Association (AMDA) was established in 1995 to assist in funding research and to promote public awareness of Pompe disease.
Meet the Patients, Patient & Caregiver Stories

Welcome to, where we’re dedicated to sharing real-life acromegaly stories, helpful resources and practical tools for people with acromegaly and their friends and family. acknowledges that acromegaly affects people in different ways and encourages everybody living with acromegaly to work in tandem with their health care team to seek GH and IGF-1 levels in a normal range and symptom control for their disease. With support from: Chiasma, Inc.
Patient & Caregiver Stories

"Alive" Lyric Video - by Melissa Hogan/Mark Irwin

"Alive" was penned by a mom in honor of her son's fight against the rare disease Hunter Syndrome. Written by Melissa Hogan and Mark Irwin, performed by Doug Stokes. Finalist in the 2015 International Songwriting Competition country category. VOTE for "Alive" as the ISC People's Voice Award winner at (first song listed in the Country category) every day from now until 4/15/16. All rights reserved.

Alliance for Cryoglobulinemia, Patient Stories

The Alliance For Cryoglobulinemia is an inclusive network of patients, caregivers, family, medical professionals and Cryoglobulinemia Ambassadors dedicated to improving the quality of life for people with cryoglobulinemia. Our goal is to act as an international platform that links all efforts of cryoglobulinemia research, awareness, patient support and education.
Find out about Living and Thriving with Cryoglobulinemia:
Patient Stories
Patient Videos
Cryoglobulinemia PSA
Share your story

Alström Syndrome UK, Inspirational Stories

Award Winning Charity, Alström Syndrome UK Advancing Diagnosis, Care, Treatment and Support for those living with Alström Syndrome in the UK and throughout Europe
Find inspirational stories from those people living with Alström Syndrome.

Always in Hope, a Rare Documentary

Always in Hope tells the story of the world’s “Rare Community” at a pivotal point in history. Never before has the opportunity existed to change and save the lives of so many.

The project explores this “Rare” experience from the point of view of the stakeholders themselves; From the individual patients, parents, caregivers and advocates who are striving to move the needle of progress for their specific disorder to the world’s most brilliant, forward-thinking researchers, innovators, technologists, scientists, inventors and entrepreneurs who are changing the game on a global scale.
Submit Your Story

Australian Experience of Living with a Rare Disease, The

Download a collection of personal stories prepared by Rare Voices Australia.
Find out more about what it is like to live with, or care for someone with a rare disease. The stories featured are real experiences and will give you an insight into some of the issues these patients face on a daily basis.

Bendy Beauty

Beauty therapy & make-up student, make-up and nail polish obsessive, bendy-EDSer, wheelchair user.
Hypermobile Type Ehlers-Danlos syndrome, Postural Tachycardia Syndrome (PoTS), Fibromyalgia and gastroparesis

Brynn's Bubble

For as long as I can remember, friends and family members have told me that I should have my own protective bubble to keep me safe from the world- So I have decided to create one myself. Welcome to my bubble! It is here where I will continue to share my journey and thoughts on what it is like to live a day in the life of Brynn.

Those of you that don’t already know me may be wondering, “Why the bubble?” I have been sick and have had bizarre medical problems for the better part of my teenage years. After seven years of searching for answers, I was diagnosed with Mast Cell Disease and *POTS *(Postural Orthostatic Tachycardia Syndrome) in 2012.


CheckOrphan is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform whereby visitors have access to the latest news and information associated with RARE diseases. This international platform allows visitors to be updated daily, interact with people of similar RARE disease afflictions, or access current research through our partnership with PubMed.
CheckOrphan blog

Children's Gaucher Research Fund, Family Stories

Children's Gaucher Research Fund mission is to raise funds and unite families to find a cure for GD2/3. The stories from families will help you to understand why this work is so important.

Chronic Illness Bloggers

Chronic Illness Bloggers is a network for bloggers focused on chronic illness. All chronic illnesses are welcome here and we aim to create a supportive community for bloggers, where we can share ideas, blogging tips and brand collaborations.
Join Chronic Illness Bloggers

Chronic Illness Diary Of A Young Adult, The

The Chronic Illness Diary Of A Young Adult is a blog of a young adolescents life and health issues with Ehlers Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Mast Cell Activation Disorder, Chronic Fatigue Syndrome, Gastroparesis, Fibromyalgia,Chronic Pain & more. It covers the journey from a teenager to young adult and how life drastically changes when you become chronically ill. Aiming to help others and learn from fellow chronic illness sufferers in the process.

Con gli occhi tuoi (With Your Eyes)

Story now available in English
The video and story "Con gli occhi tuoi" (With Your Eyes) is a special animation created for the World Day of Rare Diseases 2014 (Rare Disease Day) by the painter Vera Puoti, who reworked a collection of children's drawings. It's a story of love and friendship , born from the imagination of primary school students in Rome. It was made in collaboration with the National Institute of Health and Ministry of Health, the Ministry of Education, University and Research, UNIAMO (Italian Federation for Rare Diseases), Bambino Gesù Children's Hospital and sponsored by the Diocese of Rome, Center for Pastoral Care. In addition to the video and the story, a manual is also available on methods for talking about rare diseases in primary school, aimed at teachers.

Cure Sanfilippo Foundation, #SavingEliza video

The mission of the Cure Sanfilippo Foundation is to advocate for and fund research directed towards a cure and treatment options for patients with Sanfilippo syndrome.
One family's story
Every Sanfilippo family's reality

David R. Cox Prize for Rare Compassion

With support from the Global Genes Project, Student Advocates for Neglected Diseases (STAND) presents the David R. Cox Prize for Rare Compassion, in recognition of the inspiring essays of student doctors who have most identified with and understood a rare or neglected patient community they have become close to.
August 1, 2016 – Essay Submissions deadline/closed
Read the 2015 Winning Essays

Difference Diaries

Difference Diaries are short documentary-style films. These are young adults telling it like it is about living day by day with difference.
Teaching Guide available

DIY Scientist, the Olympian, and the Mutated Gene, The

How a woman whose muscles disappeared discovered she shared a disease with a muscle-bound Olympic medalist.
By David Epstein @DavidEpstein, ProPublica @ProPublica
January 15, 2016

EURORDIS, Living with a Rare Disease

EURORDIS is the Voice of Rare Disease Patients in Europe
Most rare diseases have no cure, so living with a rare disease is an ongoing learning experience for patients and families. Here is a collection of stories and videos from people who have generously shared their experiences of living with a rare disease.

EURORDIS Photo Contest

With over 300 entries from all over the world, the EURORDIS Photo Contest is an opportunity to highlight what it means to live with a rare disease.


EURORDIS is the Voice of Rare Disease Patients in Europe
Find video channels on a variety of rare disease topics.

Expression of Hope

A Global Program of Awareness and Inspiration Featuring Works of Art by the Lysosomal Storage Disorder Community. Sponsored by Sanofi Genzyme
In honor of Expression of Hope’s 10th anniversary, we have created a commemorative eBook and a series of videos sharing a selection of these stories.

Facing Fabry Together Film

Facing Fabry Together Film was launched by Genzyme on the International Rare Disease Day 2013. The film depicts four families from Canada, Brazil, Germany, and France, separated by geography but bound by the common experience of living with Fabry disease. These families share their childhood challenges, their journeys to diagnosis, and their hopes for the future in a powerful and touching way. The film is a meaningful and impactful resource for raising disease awareness and providing education on Fabry disease.

Family That Couldn't Sleep: A Medical Mystery, The

Book by D. T. Max @dtmax
For many, the prospect of going without sleep for months is a nightmare. Fatal Familial Insomnia means just that. The disease strikes in middle age, with symptoms including sweating, impotence and the sudden onset of menopause. 15 months after the symptoms appear, the patient dies. Very little is known about the disease’s cause or treatment. Members of one Italian family experienced the horror of fatal familial insomnia for two centuries. D.T. Max’s The Family That Couldn’t Sleep details their saga with the disease and their race to find a cure.

FH Foundation, Personal Stories

The FH Foundation is a patient-centered nonprofit organization dedicated to education, advocacy, and research of Familial Hypercholesterolemia (FH).
Personal Stories - In their own words
FH Videos
Share Your Story