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Stories Of The Week

Austin Crawford Fights Multiple System Atrophy | MSA Austin Crawford Fights Multiple System Atrophy | MSA

Fighting MSA: Austin Crawford's Story

Austin, Multiple system atrophy, United States, October 4, 2021

Hi my name is Austin Crawford. I was born in Watseka, Illinois. Raised in a rural area I started riding dirt bikes at a young age and continued to ride up until the age of 47.  I was a Street Supervis...

Sofia Angiuli Sofia Angiuli

Sia Strong

Stephanie Kale, Leukodystrophy and Epilepsy, United States, September 14, 2021

In 2019 our daughter was diagnosed with epilepsy. We noticed a decline in abilities and trouble with walking so we had further testing done. An MRI and whole exome sequencing revealed a variant in gen...

Infantile Neuroaxonal Dystrophy (INAD) Infantile Neuroaxonal Dystrophy (INAD)

Alice from Brazil is living with Infantile Neuroaxonal Dystrophy (INAD)

Isabela, Infantile neuroaxonal dystrophy, Brazil, August 23, 2021

My name is Isabela, I am Alice's mother who is 3 years old. We are from Brazil!Alice had her normal development until she was 18 months old. Alice sat alone, crawled and walked with support. After she...

My family My family

Xander's Journey finding a cure

Yohanna, SLC6A1, United States, March 1, 2021

My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was conce...

Mia Mia


Maja, 1p36 deletion syndrome, Croatia, February 28, 2021

My daughter Mia was born with congenital cytomegalovirus infection and from birt we new she will face a lot of obstacles in her life. We were told she will never walk, talk etc. But she was little war...

SuperBouli SuperBouli

Story of SuperBouli

BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021

SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRare!!! I am Bouli, and this year, on the 28th of February, the rare disease...

Photography credit: Oumayma B. Tanfous Photography credit: Oumayma B. Tanfous

Keep on Smiling

Maria, Beta-thalassemia, United States, February 25, 2021

Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...

On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling. On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling.

"Juvenile ALS" occurs in less than 1 out of 1 million people

Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021

Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...

Hagamos visible las enfermedades raras... Hagamos visible las enfermedades raras...

Nahiara... el amor en persona

Claudia, Williams syndrome, Argentina, February 24, 2021

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...

Palden and Mom Palden and Mom

The Glimpse into Palden's Journey as the First SMA Patient of Bhutan

Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021

Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA...

Laurenne in Wellington Laurenne in Wellington

You have what now?!

Laurenne, Panhypopituitarism, Hypogonadotropic hypogonadism, New Zealand, February 10, 2021

Hello to everyone reading this, my name is Laurenne, and I was born with congenital Panhypopituitarism (CPHP), and Hypogonadotropic hypogonadism (HH)It briefly means that all the hormones that a funct...

Yasmin ElSamra & mama hanaa elsadat Yasmin ElSamra & mama hanaa elsadat

Yasmin ElSamra left a legacy

Yasmin ElSamra, Epidermolysis bullosa dystrophica, Egypt, February 6, 2021

Epidermolysis  Bullosa (EB) is a genetic condition that causes the skin to be fragile, blistering easily. Blisters and skin erosions form in response to minor injuries or frictions. Mutations in the C...

More stories

Short bowel syndrome = SBS = Silent bowel struggles

Short bowel syndrome = SBS = Silent bowel struggles

Jade, Short bowel syndrome, Australia, November 3, 2021

Silent bowel struggles (aka short bowel syndrome) is my life now but it didn't start so silently when the pain came from nowhere on just another average day at age 43. That pain was quickly replaced b...

Stevens Johnson Syndroom

Stevens Johnson Syndroom

pieter, stevens johnson syndrome, Netherlands, October 14, 2021

Tot mijn verbazing en teleurstelling kan ik bovenstaande aandoening niet in de hele lange lijst vinden, ook niet als Lyell (een nog zwaardere vorm), TEN of EEM. Op deze manier, dmv langdurig scrollen,...

Indra tiene el Síndrome de Pacs1

Indra tiene el Síndrome de Pacs1

mihaela, schuurs-hoeijmakers syndrome/pacs1 syndrome, Spain, October 14, 2021

Indra vino al mundo en un viernes, eran las 7 de la manana y venia con muchos suenos, era una nina muy deseada.Pero desde el minuto cero, desde su primer llanto, me la quitaron del pecho. Su destino e...

Thaïs Thaïs

Thaïs et la mutation du gène TFE3

Thaïs, Mutation du gène TFE3, France, October 8, 2021

Thaïs est notre petite fille de 14 ans, elle est porteuse de la mutation accidentelle du gène TFE3, elle a été diagnostiquée en septembre 2017 grâce à l'étude du génome après 10 ans de recherche médic...

Me dicen que nunca pierdo mi sonrisa Me dicen que nunca pierdo mi sonrisa

Siempre había estado ahí

Carina, Familial Mediterranean fever, Spain, September 26, 2021

Lo que no había cambiado en ella era su esperanza; aquella que hoy hacía su aparición y la que se esfumaba en cuanto decían su nombre y se disponía a hablar. Como en las todas las anteriores ocasiones...

Shiloh Cornett Shiloh Cornett


Olivia, Polymicrogyria with optic nerve hypoplasia, cerebral palsy, epilepsy, scoliosis, heart and lung disease, hypospadias, clubbed feet, United States, September 2, 2021

Shiloh was born on June 18,2019. He has been diagnosed with around 40 conditions since then and is currently participating in the Undiagnosed Diseases Network in hopes of finding answers. He has a 6Q2...

My life with Friedreich's Ataxia My life with Friedreich's Ataxia

My life with Friedreich's Ataxia

Natache, Friedreich ataxia, Brazil, August 30, 2021

My name is Natache Iamaya.I'm from Rio de Janeiro.I have Friedreich's ataxia, a rare genetic disorder that damages the nervous system and impairs movement and muscle coordination.The disease has alrea...

Kay Pierce After Laser Treatments Kay Pierce After Laser Treatments

Brooke Spiegler Syndrome is a BEAST that needs taming fast.

Kay, Brooke-Spiegler syndrome, United States, March 29, 2021

Hi! My name is Kay Pierce and I have Brooke Spiegler Syndrome, BSS.In 1997, I was 17 years old when I first noticed my first bump. The bumps grew to various sizes and spread to cover parts of my scalp...

That day was a good day! That day was a good day!

I won’t be beaten!

Kirsty, Netherton syndrome, United Kingdom, March 25, 2021

Like any rare condition, living with nethertons syndrome is a daily battle and the last three months has reminded me that I'm not in control of body. It's been tough! I've struggled, I've cried, I've ...

The heroine celebrates Rare Diseases Day The heroine celebrates Rare Diseases Day

A heroine from uae

EHSAN, Okur-Chung Neurodevelopmental Syndrome, United Arab Emirates, March 23, 2021

My name is Ehsan I was born in February 2014 When I was born, I was suffering from Cleft palate and I had four surgeries, including in the ear and teeth .. after my birth I take my food by a gtube of ...

Rowen snuggles Rowen snuggles

Fanconi Anaemia

Samantha, Fanconi anemia, United Kingdom, March 22, 2021

Rowen was born with a condition called TOF/OA in basic terms her oesophagus was a dead end at the top and her stomach was connected to her lungs. Rowen had surgery at 3 days old and was best case scen...

Love is the answer Love is the answer

Eli’s story

Meital, Undiagnosed, malignant high blood pressure, recurrent respiratory infections, hypotonia, developmental delays, behavior issues, reflux, United States, March 21, 2021

Our journey started on January 16, 2011 when our son Eli of 4 month old suddenly collapsed at home. He was taken to the ER. He was intubated and resuscitated and all of the sudden our baby, that was c...

Flag Square - Dibba Al-Hisn Flag Square - Dibba Al-Hisn

Ehsan and search for symptomatic treatment

Sulaiman, Okur-chung neurodevelopmental syndrome, United Arab Emirates, March 17, 2021

Okur-chung neurodevelopmental syndrome is a rare disease that was diagnosed less than a year ago. She was 7 years old and was born with a clefts palate of the throat and had four different operations ...

Me at the Freestyle Kayaking World championships in Sort Catalonia Me at the Freestyle Kayaking World championships in Sort Catalonia

An athlete with EDS and other rare diseases

Maya-ray, EDS, Scheuermanns, BlueRubber Bleb Syndrome, United Kingdom, March 16, 2021

I am 19 years old and a GB Team kayaker I write a blog on Facebook called Can u Kayak? That has lots of followers. I was diagnosed with EDS at about the age of 7 after seeing lots of different doctors...

Delilah Delilah

Delilahs Story

Bethany, TRIO Related Intellectual Disability, United Kingdom, March 16, 2021

Delilah was diagnosed on Monday 12 November 2018 with TRIO Related Intellectual Disability. She was 6 years old.Ever since Delilah was born we knew something wasn't quite right. She couldn't feed prop...

Rare is Good, Until it's Your Disease

Rare is Good, Until it's Your Disease

Lisa, Mucous membrane pemphigoid, United States, March 16, 2021

Rare. Like one-in-a-million rare.When you’re talking about winning a mega-lottery, one-in-a-million feels winnable. But then again, when you’re talking about a lot of millions in exchange for a two-do...

gesso Cosimo gesso Cosimo


Cecilia Castellini Webster, McCune-Albright syndrome, Italy, March 9, 2021

Il mio bisnipotino Cosimo (Il Grande) sta per compiere 8 anni ed ha la McCune-Albright Syndrome (MAS). Tutto cominciò la prima volta che lo vidi nudo e notai delle grandi macchie color caffellatte su ...



Richard, Idiopathic pulmonary fibrosis, United States, March 3, 2021

I was diaganosed with IPF at the age 59 and had a double lung transplant on August 12, 2019 in Nashville, TN at Vanderbilt Hospital by their Lung Transplant Department.  *Find others with Idiopathic p...

Living FAPulously

Living FAPulously

Christina, Familial adenomatous polyposis, United States, March 3, 2021

My name is Christina and I am the 3rd generation people affected by FAP, yet was the 1st generation (and person) to get genetic testing, seek treatment, and get information to all other living family ...

A day dreamer girl

A day dreamer girl

Sahar, Fibrodysplasia ossificans progressiva (FOP), India, March 2, 2021

i was born in a strict country in which you have to be Mr/Miss Perfect or else you are not human, I don't know why people say that we are modern people but they want everything Perfect,  Perfect partn...


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