Tell your story!

Share your photos, videos and your experiences!

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.
Summer Summer

Fight The Bite: Battling Tick-Borne Illness & MCAS by Mast Cells United

Amber, Rocky Mountain Spotted Fever, Alpha-Gal Allergy, & Mast Cell Activation Syndrome, United States, August 13, 2018

Ticks are most often associated with Lyme disease, but they can also transmit a bunch of other serious health conditions, which often lead to the development of mast cell activation syndrome (MCAS).Su...

MRI Scan MRI Scan

Lillie-Maude's Journey

Lillie-Maude, Chronic recurrent multifocal osteomyelitis, United Kingdom, August 8, 2018

Lillie-Maude is a 10 year old girl from the UK, she was was diagnosed with Chronic recurrent multifocal osteomyelitis which is a one in a million rare disease back in April 2017. She currently has two...

Nicki's NMO Story

Nicki's NMO Story

Nicki, Neuromyelitis optica, United States, August 8, 2018

No one could have prepared me for what was coming around the bend. While 2018 came ringing in with optimism- I was back in school getting my business degree and making moves to start a daycare center ...



Susan, Papillon-Lefèvre syndrome, United States, July 29, 2018

I have become "S"  caregiver, 2018, we live in 2 heat situations, Hot summers & Cold winters. She has been diagnosed with PLS some time ago, today is first time went on Google site & found out...

Oi - Type 3 - Daily Battle Oi - Type 3 - Daily Battle

Daily Battle

Tommy, Osteogenesis imperfecta type 3, United States, July 28, 2018

I was born with osteogenesis Imperfecta. During my birth, I already had broken bones, and previous fractures when I was inside my mom's stomach. During my childhood, I had countless fractures (approx ...

This boy can!

This boy can!

Ryan, Large congenital melanocytic nevus, United Kingdom, July 25, 2018

Hi this is Ryan, he was born with a rare genetic mutation which caused a syndrome  called congenital melanocytic Nevus or CMN for short,  in layman’s terms his body is covered in many many moles, he a...

Sam vs. VWM Sam vs. VWM

Happiness despite battling

Samuel, Leukodystrophy, United States, July 24, 2018

Sam is a 7 year old boy battling a very rare brain disease called Vanishing White Matter disease (see or for more). Vanishing White Matter disease (VWM) is untr...

Punctate Inner Choroidopathy (PIC).

Punctate Inner Choroidopathy (PIC).

Courtney, Punctate inner choroidopathy (PIC), United States, July 21, 2018

At age 30, I suddenly had a severe retinal bleed in my left eye. I was given a thermal laser treatment, whcih caused severe scarring to my central vision, and was told that I ahd Presumed Occualr Hyst...

Syringomyelia sever weakness of legs

Syringomyelia sever weakness of legs

Zeeshan, Syringomyelia, Pakistan, July 20, 2018

in 2009 i surprisingly affect by this disease . when i completly lost my control on my legs, about to fall when someone stand me in standing position. then after MRI i diagnose by doctor who are speci...

Love your lie with FA Love your lie with FA

Do your best every day!

Esteban, Friedreich ataxia, Austria, July 19, 2018

Hi Guys :) How are you? Well, I'm Esteban and live in Austria/Europe. I'm 42 now (how time flies) and for 15 years I'm using a wheelchair because of my FA! I was very sportive. I played basketball, fo...

One of a kind

One of a kind

Ellen, Rpl10, United States, July 18, 2018

My son Evan wasn't diagnosed till he was almost 5 years old with a rare genetic condition called RPL 10. I've come to find out the we are the only family to have this genetic condition. I've watched m...

Our Family Our Family

Family is everything

Karen, Homocystinuria due to cystathionine beta-synthase deficiency, United States, July 18, 2018

My husband, Mark and I have been together for 34 years! We grew up a mile from each other and met in high school.  We got married in 1989 and had our first child, Benjamin in June of 1991.  Benjamin w...

The pain is real

The pain is real

Laura, Small fiber sensory neuropathy, United States, July 17, 2018

i have had pain for years.i had 2 back surgeries and now the pain goes threw my whole started 20 yrs ago.if i sat to long on a computer or any thing the back of my neck would get on fire..i wo...

My EF Story

My EF Story

Lauren, Eosinophilic fasciitis, United States, July 4, 2018

I always thought I was pretty healthy. I ate well for the most part, felt great, and doctor’s appointments always well. I never would have imagined that I would be diagnosed with a rare disease that w...

Arij Arij

arij sees hope

Jalany, Retinitis pigmentosa, Morocco, July 3, 2018

 HELLO  we discovered that My daughter SHE 3 YEARS 10 MONTH S her vision is very weak. We made glasses but it is not improved, we did the reeducation the wild oculusion. I inform The ophthalmologist s...

GCT and Me

GCT and Me

Laura, Giant cell tumor of bone, United Kingdom, June 27, 2018

In september of 2017 i attended my football club for a normal training session which ended pretty badly as i landed in a pretty bad tackle and my ankle twisted and popped. my mum took me to the hospit...

Abigail Abigail

About me

Abigail, Perthes disease, United Kingdom, June 21, 2018

my name is Abigail and i was diagnosed with chromosome 12 deletion and has learning disabilities. She has Perthes disease in her left hip - her leg length discrepancy and contracture 5th finger in my ...

Kari and MSK Kari and MSK

Kari's fight against Medullary Sponge Kidney

Dianna, Medullary sponge kidney, United States, June 12, 2018

Kari got sick when she was 17.  She was complaining of a lot of pain.  When the Drs ordered CT scans they realized her kidneys were full of kidney stones.  I took her to see doctors at UVA, Johns Hopk...

Tonya Tonya

This too shall pass

Tonya, Tarlov cyst, United States, June 9, 2018

I began having lower back and leg pain with numbness in 2016. I went to a local ER and the Dr got aggravated with me because I refused to take medications without a diagnosis. He basically said I was ...

Angel Angel

My Little Angel

Raechel, Schizencephaly, Philippines, June 8, 2018

Hi I'm Raechel , I have a daughter who battles Schizencephaly and Seizures, among my 3 children, my youngest got this rare disease, though it's heartbreaking seeing her crying out loud and I even don'...


Share your story

(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.