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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.
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...

The Lewis Family The Lewis 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...

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'...

Growing up with Pigmented villonodular synovitis

Growing up with Pigmented villonodular synovitis

Vickie, Pigmented villonodular synovitis, United States, June 3, 2018

When I was about 10 I tripped a fell against an old rusty motorcycle. I ended up with a two inch gash across my left knee. My mom took me to the doctors house where he stitched me up on his diningroom...

Smith-Kingsmore Syndrome (mTOR gene)

Smith-Kingsmore Syndrome (mTOR gene)

Alessandra, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Italy, May 25, 2018

Hi, I have a 4 year old boy with Smith-Kingsmore Syndrome (genetic mutation of the gene mTOR). This mutation is causing him general developmental delay and autism. It seems there are less than 10 case...

My Journey with Mesothelioma Cancer

My Journey with Mesothelioma Cancer

Virgil, Mesothelioma, United States, May 24, 2018

As a young man I worked hard to earn a living. I didn’t mind that it was back-breaking work tearing down old buildings on a demolition crew; I just wanted to make money to have a better future. I didn...

Choose hope Choose hope

When life becomes a pain in the neck

Prateek, Isolated Klippel-Feil syndrome, United States, May 18, 2018

My name is Prateek Kumar Shukla. I am a second year medical student at Kent State University - College of Podiatric Medicine. My journey towards becoming a foot and ankle surgeon is one shaped by my c...

Jody Jody

The light

Jody, Ocular Melanoma, United States, May 14, 2018

Ocular Melanoma (OM), two words I had never heard together before September 2009. The purpose for sharing my story is to educate people about Ocular Melanoma and offer hope to newly diagnosed patients...

A rare and creeping neurological disorder

A rare and creeping neurological disorder

Romano, FOSMN syndrome, Netherlands, May 8, 2018

About six or seven years ago I went to see my doctor about a twitch on the left side of my face. She didn't know what it was, and since it seemed to fade I paid no mind to it any further. About four y...

I’d Never Heard Of ALD/AMN Until The World Collapsed Around Us

I’d Never Heard Of ALD/AMN Until The World Collapsed Around Us

Satish, Adrenomyeloneuropathy, India, April 27, 2018

I had no idea there is such a thing as ALD/AMN though I am now aware.My son Rohan, had started working after completing his BBA and within a few months he just could not walk. Around this time four ye...

To young for this ? So I thought

To young for this ? So I thought

Celine, Interstitial lung disease, United Kingdom, April 21, 2018

Well they say 3s a lucky number not for me I'm 47 yr old f had this disease around 2 half to 3yr isherwood since I stopped smoking 20 a day after having problems got sent to see a few professionals re...

Beautiful Connie after her open heart surgery and before the lung diagnosis Beautiful Connie after her open heart surgery and before the lung diagnosis

Connie's Cause

Becky, Congenital pulmonary lymphangiectasia, United Kingdom, April 14, 2018

Hi please can anyone help, as a family we are desperate to find help for my 7 month old niece Connie Warren. She has been diagnosed with CPL - Congenital Pulmonary Lymphangiectasia a rare lung disease...

Is this ALL I am?

Is this ALL I am?

Wendy, Small fiber sensory neuropathy, United States, April 11, 2018

I decided to add my experience here after reading Brooke's story. It has been almost fifteen years since the onset of Small Fiber Sensory Neuropathy in late 2004. The disorder is prefaced "Idopathic",...

My left foot My left foot

Progressive Pain

Laurie, Ledderhose disease, United States, April 3, 2018

About ten years ago I felt a painful lump in my left foot. I ignored it thinking I must have stepped on something. Over time I did a bit of research and discovered I have Ledderhose disease. I had my ...


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