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.
Anti-LGI1 LE & Neuromyotonia

Anti-LGI1 LE & Neuromyotonia

Paul, NPLE-Anti-LGI1, Neuromyotonia, Israel, February 19, 2020

My husband was diagnosed in late 2017 after comments like "It's just your age - forgetfulness (68) - talk to a psychiatrist; and those are benign fasciculations" - but only when the bracchio-facial dy...

Je suis Drépanocytaire

Je suis Drépanocytaire

Shelley, DREPANOCYTOSE, Gabon, February 19, 2020

Je Shelley, je vis au Gabon, drépanocytaire SS suis née et thalassémique. De plus petite, je ne comprenais pas j Pourquoi maaaaaaaal à attrocement en avais tous mes os, mon ventre se gonflait pendant ...

2018 2018

My ICP story

Samantha, Intrahepatic cholestasis of pregnancy, Canada, February 19, 2020

I was 22 years old and expecting my first child. I was extremely excited to bring my little man into this world. Around 31 weeks pregnant I expierienced extreme itching on my hands and feet to the poi...

Me Me

It wasn't a pinched nerve.

Dana, Essential thrombocythemia, United States, February 19, 2020

Back in October 2017 I had a stitch in my left side. I have back issues and figured it was just another pinched nerve. After almost a week the pain was so bad I finally went to the ER. After a CT scan...

Surprise Diagnosis in Mid-Life

Surprise Diagnosis in Mid-Life

Kim, Common variable immunodeficiency, United States, February 19, 2020

My journey has been one of a life time of chronic infections. Not just your run of the mill infections but chronic strep, staph, Parvo virus, chronic MRSA of the sinuses, mono twice and anything you c...

Going to a wedding Going to a wedding


Maegen, Williams Syndrome, United States, February 19, 2020

Hello my name is Maegen I am 31 years old and I am proud to have Williams Syndrome it has not always been that way because school was difficult I have come a long way I am on the Board of Trustees for...

Olivia, age 12 Olivia, age 12

Williams Syndrome

Olivia, Williams syndrome, United States, February 18, 2020

Olivia was diagnosed with Williams Syndrome at 15 months old after a heart specialist examined her aortic stenosis.  This genetic disorder occurs in one in 10,000 people.  In addition to her mild hear...

Looks Can Be Deceiving Looks Can Be Deceiving

Battle for Confirmation: My Story

Skyler, Ehlers-Danlos syndrome type 3, immunodeficiency, mast cell activation syndrome "undiagnosed", craniocervical instability "undiagnosed", United States, February 18, 2020

Lets, start from the beginning: I was born at 24 weeks gestation and spent the first 4 months of my life in the neontal intensive care unit (NICU). After being healthy enough for discharge, my family ...

Liam Liam

Liam’s NF and CLE journey

Vanessa, Neurofibromatosis type 1, Australia, February 18, 2020

This is Liam, He's my beautiful son who was born with not only Neurofibromas type 1 which affects 1 in 2,500 people but also another Rare condition called Congenital lobar emphysema which affects 1 in...

Corneal Neuralgia

Corneal Neuralgia

tracy, Corneal Neuralgia, United States, February 18, 2020

I suddenly developed severe pain in my eyes one night while shopping.  It was as if a light switch went on and suddenly sharp icicles were raining into my eyes.  I spent the next 3 months going from o...

Stella Stella

Stella’s story

Adrienne, Infantile inset ascending hereditary spastic paraplegia, United States, February 18, 2020

Every Valentine’s Day I celebrate with my family.  It’s also a very special day because we received Stella’s diagnosis on Valentine’s Day.  It’s a day full of emotions but also so much to be grateful ...

Life to the Full with a Desmoid Tumor

Life to the Full with a Desmoid Tumor

MaryBeth, Desmoid tumor, United States, February 16, 2020

At the age of twenty-five, after undergoing several scans and, ultimately, a biopsy, I was diagnosed with a Desmoid tumor, otherwise known as aggressive fibromatosis. Desmoid tumors impact approximate...

MPA Vasculitis - My Journey

MPA Vasculitis - My Journey

Barbara, Microscopic polyangiitis Vasculitis, Canada, February 16, 2020

My journey with MPA Vasculitis began with two months of flu like symptoms.  I was confused given it was summer, and I’d had an annual flu shot earlier that year.  I ran a low-grade fever for two month...

Mask to protect Mask to protect

Years to find the rare

Noah, Mast cell disease, United States, February 15, 2020

Noah's had a tough battle trying to figure out what is wrong! It took over two years of ER and doctor trips to finally get infront of the right doctor's to diagnose him. Through the journey he and I w...



Jacqueline, antiphospholipid, United States, February 15, 2020

I was diagnosed with antiphospholipid syndrome when I was 10 years old. A year later I am living my best life with zero pain at all! 

My Photo My Photo

Fighting for my eyes, fighting to be seen

Noah, Ocular Neuropathic Pain Syndrome and corneal nuralgia, Corneal Dystrophy, Meesmanns Dystrophy, Autoimmune Disease, United States, February 14, 2020

I had worked with computers my entire adult life, long hours in front of the computer take their toll on your body and your eyes so I didn't think much of it when I began having mild eye pain in my 30...

Me & mom Me & mom

LEGIUS syndrome

Nathan, Legius syndrome, United States, February 14, 2020

LEGIUS syndrome is a defect on the SPRED-1 gene. You have the same cafe-au-lait spots as people with NF, but you never develop the tumors. Only about 250 people in the world have it, and ADHD is a com...

Lisa, CML patient Lisa, CML patient

Living with CML: Lisa

Lisa, Chronic myeloid leukemia, Canada, February 14, 2020

My name is Lisa and I live in Toronto, Canada. I was diagnosed with Chronic Myeloid Leukemia (CML) in 2008, when my son Anthony was just one year old, and my daughter Grace was three. I am the founder...

Kcnq2 encephalopathy Kcnq2 encephalopathy

You don’t think it will happen to you, then it does.

Shay, KCNQ2-related epileptic encephalopathy, United Kingdom, February 13, 2020

E is for epilepsy. E is also for evil. Evil epilepsy. Having my second child I knew something was wrong when I was pregnant. The movements weren't right, not like when they have hiccups. Like a seizur...

Living with Bile Acid Malabsorption

Living with Bile Acid Malabsorption

Debbie, Disorder of bile acid synthesis, with cholestasis and malabsorption, United Kingdom, February 13, 2020

In 2006 I had my gallbladder removed. Little did I know of the consequence. The Gallstones went and for ten years my IBS seemed to improve. However, nothing could prepare me for the next chapter of my...


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.