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.


Erica, 1p36 deletion syndrome, United States, February 19, 2019

Hello, my name is Erica on oct.29.2018 I gave birth to a beautiful baby girl name princess bella christine I didn't know much was wrong till I took her into the hospital 12.08.18 because she keep thro...


My princess

Dalis Athanasios, SMA type 1, Greece, February 18, 2019

Η Χρυσοβαλαντου ειναι 6 ετων με Sma type 1 εχει τραχειοστομια με αναπνευστηρα και τρωει μεσο γαστροστομιας  ειμαστε σε θεραπεια με το Spinraza και εχει βελτιωση στο αναπνευστικο και στο λογο ειναι ολη...

Archer M. Archer M.

Archer's Journey

Ashley, Peroxisomal biogenesis disorder - Zellweger spectrum disorder, United States, February 18, 2019

Our journey with a rare disease began in 2010 when our fourth child, Archer, was born. Around six months of age, he began having rapid eye movement, or nystagmus. After some testing, he was diagnosed ...

Girl with DMD in trip Girl with DMD in trip

Girl with DMD

Feriel, DMD, France, February 18, 2019

Hello my name is Feriel i'm 27 years and i'm a girl with DMD. I live in Paris, I'm FrenchDuchenne is very rare for the women Duchenne affects approximately 1 in every 3,500 boys that are born but only...

Syngap1 story Syngap1 story


Encarnación, SYNGAP1, Spain, February 17, 2019

Celia is a 19 year old lovely girl, she was diagnosed when she was 17. Our life was full different drawbacks in her condition and some peaceful periods. She is lively and warm when she has the right m...

Lymphatic Plastic Bronchitis....

Lymphatic Plastic Bronchitis....

Pat, Plastic bronchitis, United Kingdom, February 17, 2019

Over the last 20 years or so I have had recurrent pericarditis plus other issues, like increasing joint pains.In 2014 had a harsh cough for a few hours and coughed up a small white stringy mucus but n...

All 8 kids with my parents All 8 kids with my parents

Our disease is rare, but we are stronger together. Living with Familial Adenomatous Polyposis

Laura, Familial adenomatous polyposis, United States, February 16, 2019

My family carries the APC gene mutation that causes Familial Adenomatous Polyposis or FAP. The first known relative to be diagnosed with multiple polyps in the colon at a young age was my great-grandm...

Meet my Little Itch Meet my Little Itch

Fight the Itch - ICP Warrior

Alexandra, Intrahepatic cholestasis of pregnancy - ICP, United States, February 15, 2019

It all started with an itch! Just 16 weeks into pregnancy, I started to itch. I was going through a lot, I had just lost my father I was growing a human and I chalked it up to stress. That was until t...

I will NEVER give up!

I will NEVER give up!

Melissa, Chiari malformation type II, United States, February 14, 2019

Hello Everyone,As we all know everyone has his or her own challenges in life that he or she has to face on a daily basis; however, I believe it is how we handle and respond to these challenges that he...

Me before I started my never ending nightmare Me before I started my never ending nightmare

My genetic malformation and mutations

Michelle, Factor five v laiden, chari malformation and epilepsy, United Kingdom, February 14, 2019

I was diagnosed with epilepsy after two yrs of black out, numerous ecg test and reveal monitors as doctors said it was an issue with my heart, it was on this hospital admission I first heard the words...

Alive and happy thanks to IgG4

Alive and happy thanks to IgG4

Cliff, IgG4-related pancreatitis, United States, February 14, 2019

IgG4-related disease has been around for centuries ... but only in 2012 did anyone fit puzzle pieces together.  It's been called "A black crow flying through the dark night of medical history"  It sho...

Huntington's Korea

Huntington's Korea

Jennifer, Huntington Chorea, United States, February 13, 2019

I was diagnosed with Huntington Chorea  a month ago.  I also have a son named Max who the Neurologist said has a 50 percent chance of inheriting Huntington Chorea from me.

Anja Anja

Make up your own mind.

Anja, Mayer-Rokitansky-Küster-Hauser syndrome, Germany, February 13, 2019

Hi, my name is Anja. I was born with the Mayer-Rokitansky-Kuester-Hauser Syndrome. That means I was born without having a womb and with a not fully developed vagina.I am 1 in approx. 5000 women, so, I...


Dear Jordyn-Ann, Our Little Warrior

Carolyn, optic nerve hypoplasia,CHD5, DOCK 10, United States, February 12, 2019

Dear Jordyn-Ann,Before you were born, we went through one of the most difficult tragedies imaginable, we lost your brother. His name was Jaxson and he is now an angel looking down on you. He had sever...

Our family Our family

The diagnostic odyssey, a peroxysomal biogenesis desorder history

bianca, Peroxisome biogenesis disorder, Canada, February 12, 2019

Hello! We are a family from Quebec, and we are happy to introduce our beautiful family through PBD Canada. My name is Bianca and I am the proud mother of three beautiful children, two of which have re...

The Walking Dead.

The Walking Dead.

Tyrone, Undiagnosed, United States, February 11, 2019

I have been living with a fecal odor for over 10 years now. I have tried everything to fight against the odor to no avail. I'm constantly harassed, teased by people and it hurts so deeply. There is no...

Alanna's Story

Alanna's Story

Alanna, CRPS, United Kingdom, February 11, 2019

Hi I'm Alanna I'm 18 and I live in the Uk .I suffer from CRPS, fibromyalgia, Anxeity, Depression and PCOS.  I have CRPS in my right arm and hand and my Right leg for 4 years. My hand was locked in a f...

Living with Alopecia: It’s More Than Just Hair Loss

Living with Alopecia: It’s More Than Just Hair Loss

frankie, Alopecia, United Kingdom, February 11, 2019

Alopecia is something that I did not expect to get in my life. It is a condition that I knew others had, but as with any illness, we just don’t ever see ourselves contracting it. I was in a state of s...

The Journey of Champ1 mutation

The Journey of Champ1 mutation

Lisa smith, champ1 mutation, United States, February 11, 2019

My beautiful daughter Breanna is 20 years old in March and functions around the age of a 4 year old. She loves people and is very social but there are alot of times severe behaviors get in her way..We...

Anna Rose Anna Rose

My Itchy Miracle Baby

Jenny, Intrahepatic cholestasis of pregnancy, United States, February 11, 2019

This is my journey with cholestasis. To begin my story, I would like to give the background of my already high-risk pregnancy. My husband and I were married in January of 2017. We were both single par...


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.