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Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.
My daughter Leah

My daughter Leah

Jenny, Nephrotic Syndrome, United Kingdom, February 28, 2021

Easter Holidays 2019 my 8 yr old daughter woke up with puffy eyes. What at first we thought was allergies turned out to be the worst 4 days of our lives.She was given anti allergy tablets but nothing ...

Bones Phighter Bones Phighter

PH Warrior Phighter

Jessica, Pulmonary hypertension due to lung disease and/or hypoxia, United States, February 28, 2021

Baby Jessica was born October 26, 1983 at Denver General Hospital in Denver, Colorado. Jessica was born 3 months premature weighing one pound,  7 ounces. The Rocky Mountain News crowned her the “Mirac...

Me and my little bonsai Me and my little bonsai

We can help to help

Marielou, Cystic fibrosis, Italy, February 28, 2021

Trovo molto tenero che proprio il 29 febbraio, il giorno più raro dell’anno, sia stato scelto per celebrare il #RareDiseaseDay, la GIORNATA MONDIALE delle MALATTIE RARE.Come sapete ho sempre condiviso...

My wedding 2020 My wedding 2020

Living with hsp

Jessica, Hereditary spastic paraparesis, United States, February 28, 2021

At about 3 years of age I was diagnosed with cerebral palsy but around 10 years of age I started experiencing more symptoms like seizures and worsen gait. When I entered high school I was diagnosed wi...

Rare Medical Conditions Increasing the Risk of Eating Disorders? Thoughts on Unfamiliar Diagnoses Rare Medical Conditions Increasing the Risk of Eating Disorders? Thoughts on Unfamiliar Diagnoses

Drying, Watering, Drying, Watering

Lara, Diabetes Insipidus, Austria, February 28, 2021

I was born with diabetes insipidus renalis in February 1991. Until July of that year, nobody could figure out why I was always screaming. Once I had picked up a hose in the garden to drink from, it be...

My Body Called. I Tried To Answer.

My Body Called. I Tried To Answer.

Johnny, Primary sclerosing cholangitis, United States, February 28, 2021

Primary sclerosing cholangitis, ulcerative colitisI started getting sick when I was 18.Up until 2018, my biggest battles with physical illness were somehow catching Mono twice and whatever had been go...

Silvio Silvio

Friends for Silvio, Raising Awareness of ALS

Friends of Silvio, Amyotrophic lateral sclerosis (ALS), Brazil, February 28, 2021

We are friends of Silvio, a wonderful musician and professional who is recently diagnosed with ALS. We are looking to raise awareness and find treatments for ALS by sharing our friend Silvio’s story h...

Turns out there was something wrong

Turns out there was something wrong

Shevaun, Hypoparathyroidism, United Kingdom, February 28, 2021

For the first 25 odd years of my life I struggled with brain fog, pins and needles, vertigo, insomnia, depression, anxiety and a general sense of never really feeling well.  I went to doctors but got ...

It is hard to live with rare disease, but it is worth it!!

It is hard to live with rare disease, but it is worth it!!

Luke, Ehlers-Danlos syndrome hypermobility type, Czech Republic, February 28, 2021

Mrkh and me Mrkh and me

MRKH and Me

Jennifer, Mayer-Rokitansky-Küster-Hauser syndrome type 1, United States, February 28, 2021

Picture me at 17. A delco native doing my best to enjoy my teenage life. I focused on the now a lot. For years at this point I had been shuttled to different pediatricians and doctors trying to figure...

Whistling Face Syndrome Whistling Face Syndrome

Whistling Face Syndrome

Zoraida, Whistling face syndrome, Puerto Rico, February 28, 2021

Hello everyone! I'm puertorican.. I born in 1984 with Whistling Face Syndrome, or Freeman and Sheldon syndrome. I'm the only one in my family with the syndrome.I have a BBA in Marketing and MBA in Hum...

Simon Simon

Simon`s story - or how to find a treatment for MCOPS12 patients

Edith and Reinhard, MCOPS12, Austria, February 28, 2021

Hi everyone,We are Edith and Reinhard, and the parents of Simon who is a 3.5-year-old boy affected by an ultra-rare neurological disease called MCOPS12. It is caused by a mutation in the RARB gene lea...

Seriously?

Seriously?

Sean, Neurofibromatosis type 1, Celiac, Dermatitis Herpetiformis, CRPS/RSD, United States, February 28, 2021

Polygenetic, multimorbidity, prejudice. When you spend your life paying for science based healthcare to understand the challenges you and your children live with, you get to experience words like thes...

Eve Eve

Getting there

Eve, Behçet disease, United Kingdom, February 28, 2021

After a long chest infection from November to December 2019 I started developing painful oral ulcers which also spread down my throat, I lost count at 50 in one go. I was so puffy and swollen, I could...

A rare disease, with an even rarer full recovery

A rare disease, with an even rarer full recovery

Adelle, Transverse Myelitis, United States, February 28, 2021

As is my custom on Rare Disease Day, here is my story: Today is Rare Disease Awareness Day.  My rare disease is idiopathic Transverse Myelitis. In order to be rare, a disease must impact fewer than 1 ...

Living with an ultra rare cancer Living with an ultra rare cancer

Living with an ultra rare cancer

Mariana, Epithelioid hemangioendothelioma, Portugal, February 28, 2021

Four years ago I was diagnosed with Epithelioid Hemangioendothelioma (EHE) in the liver, an ultra rare cancer with a prevalence of 1 in 1 million. At the time of my diagnosis, my former team of doctor...

CANVAS syndrome

CANVAS syndrome

Sandra, CANVAS, Netherlands, February 28, 2021

Canvas syndrome diagnosed in 2020. Symptons started 16 years ago with chronic coughing. Dizzyness and balance issues getting worse. Now 49 years old with 9 year old son. Prognosed: slowly getting wors...

Rare but unique

Rare but unique

Fiona, Laurin-Sandrow syndrome, United Kingdom, February 28, 2021

I have had this since I was born. Nobody else in my family has it and nobody really knows what it is. As a child I used to hide the fact I have it. Even to this day, nobody knows I have it because I h...

Nellie age 9 Undiagnosed Nellie age 9 Undiagnosed

An Undiagnosed Journey

Emma, Undiagnosed, United Kingdom, February 28, 2021

Hi, I’m Emma. I am a mum of five. William is fifteen, Alfie is twelve, George is six, Arthur is three, and my SWAN Nellie is nine.  Having a child who is undiagnosed is a lonely situation to be in - ...

My Family My Family

Live love laughs

Maria, Sporadic Lymphangioleiomyomatosis with Tuberous Sclerosis, Cyprus, February 28, 2021

Hello my name is Maria i am 39 years old and I am from Cyprus. I was diagnosed with my rare disease in 2012. In March 2012 I had multiple episodes of spontaneous pneumothorax so I had to go in and out...

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(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.