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.


Elisabet, VLCAD deficiency, Spain, February 6, 2019

Alicia nació mediante un parto inducido a la semana 41 y un dia. Pesó 3,640 kg en un pequeñito cuerpo de 47 cm. Era perfecta y todo habia ido bien. Pero a las 24 horas de nacer empezó a tener.problema...

CHAMP1 Research - Our CHAMP community CHAMP1 Research - Our CHAMP community

CHAMP1 - Our Rare Worldwide Family

Stacey, CHAMP1, United Kingdom, February 5, 2019

There are currently only 51 people in the world diagnosed with CHAMP1 gene mutation.  The CHAMP1 Foundation is an organisation created for parents of children with developmental delay, hypotonia, cere...

Marta Marta

Tengo síndrome de Dolor Regional Complejo, y no soy invisible

Marta, Complex regional pain syndrome, Spain, February 5, 2019

Desde hace 11 años tengo Síndrome de Dolor Regional Complejo. Una enfermedad rara, poco frecuente. E invisible. Me diagnosticaron cuando llevaba casi 6 años enferma.Sufrí un traumatismo en el pie dere...

RDD 2018 RDD 2018

Mighty Matthews journey through Morquio

Diane, Mucopolysaccharidosis type 4A, South Africa, February 5, 2019

Matthew May’s Rare Disease story is like many; it has a beginning, a middle but no end... Unlike many Rare Disease stories; it is full of hope, success and triumph over all the odds.Matthew is a littl...

Me Me

Hereditary Angioedema

Jill, Hereditary angioedema type 3, United States, February 4, 2019

My name is Jill, I am 34 years old, and by the looks of me most of the time, I am a normal green haired, tattooed mega nerd from Northern California. I can often be found wearing bright, bold clothes,...

My Story My Story

The PSP Chronicles

Tim, Progressive supranuclear palsy-parkinsonism syndrome, Canada, February 4, 2019

An ordinary man... with an extraordinary story. Diagnosed at age 57 with early onset dementia and a rare brain disease. No treatment-cure.

HNPP : tintelend door het leven

HNPP : tintelend door het leven

Mia, HNPP, Belgium, February 4, 2019

In 2010 werd diagnose gesteld, nadat ik steeds meer moeite kreeg met stappen. Ook kreeg ik vooral tintelende , branderige ledematen en het gevoel op wolkjes te lopen. Via DNA-onderzoek heeft men kunne...

Síndrome de dolor regional complejo tipo II

Síndrome de dolor regional complejo tipo II

Jennifer, Complex regional pain syndrome type 2 (CRPS2), Spain, February 4, 2019

Mi nombre es Jennifer, tengo 31 años de edad. Desde 2017 tengo síndrome de dolor regional complejo (CRPS), se clásicamente conocida como distrofia simpática refleja (RSD) o síndrome de Sudeck. Una enf...

PURA perfect

PURA perfect

stephanie, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, United States, February 1, 2019

On April 25, 2012 my husband and I welcomed our first child into the world. The doctors said he was healthy and we went home within the two days. Instantly we started to notice things were not right. ...

Growth Growth


Jakesha, Lymphatic Malformation, Virgin Islands. U.S., February 1, 2019

Born with a rare condition called lymphatic malformation, I was flown out from my little island to PR to be diagnosed. Bounced around a few doctors, I then settled in Boston. I’ve had well over 40 sur...

Rare Disease Day 2019 Rare Disease Day 2019

Joey's Galactosemia Story

Joey, Galactosemia, United States, February 1, 2019

Joey is a happy, loveable, funny, 8-year-old, with one rare difference – he has a Metabolic disease called Galactosemia.  Joey was diagnosed at three days old via New York State’s Newborn Screening Te...

Χορεια τουHuntigton

Χορεια τουHuntigton

Φραγκουλα, Huntington disease, Greece, February 1, 2019

Για 20 Χρόνια περιθαλπω τον σύζυγό μου με την ασθένεια. Υπάρχει ενδεχόμενο  50% να το έχει κληρονομήσει η κόρη του....

Our Milah "Rae" of Sunshine Our Milah "Rae" of Sunshine

Rare Beauty

Kailee, Primary ciliary dyskinesia, United States, January 29, 2019

I gave birth to the most amazing little girl on August 31st, 2016 at 11:51 PM. She weighed 7 lbs 10.5 ounces and was 21 inches long. She was the most beautiful little thing and was absolutely perfect....

Zander and Mr. Rare Zander and Mr. Rare

We're aware were Rare

Cindy, Hereditary pulmonary arterial hypertension, United States, January 29, 2019

Myself 58, my son 38, and my grandson 7 all have Pulmonary Arterial Hypertension. My mother passed away with it when I was 15 and she was 39. My brother was diagnosed with PAH at 42 and passed away at...

Breaking out of the Rare Disease Buble. Breaking out of the Rare Disease Buble.

ADNP-syndrome - Breaking out of the bubble.

Jesper, ADNP-related syndromic intellectual disability-autism spectrum disorder, Denmark, January 28, 2019

My son Albert found his tribe in the spring of 2015. He was 5 years old then. Born in 2009, Albert had a rough start to life, barely surviving birth. Due to a congenital heart defect, Fallots Tetralog...

Cast with Sass Cast with Sass

Whitleigh's Casting for the Curve

Courtney, Progressive Infantile Idiopathic Scoliosis, United States, January 27, 2019

In December, my 18-month-old daughter, Whitleigh was diagnosed with Progressive Infantile Idiopathic Scoliosis. While scoliosis is not rare, this form of it is! Only 1 in 10,000 children are diagnosed...

Shame and blame

Shame and blame

Margaret, Trimethylaminuria, United Kingdom, January 27, 2019

Hi everyone, I'll keep this brief.I first noticed I had a problem over 30 years ago, just after I'd had my first child.There's a very definite look that people give you when you smell. The sort of fac...

Mundo Goncalinho Mundo Goncalinho

Living with Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

Tânia Vargas, Osteogenesis imperfecta, Ehlers-Danlos Syndrome, Portugal, January 27, 2019

Parenting is a journey that no one prepares you for, especially when we're parents for the first time. We can read many books, learn many theories, but when it comes to practice, reality is very diffe...

Hanna Hanna

Hanna and Pten

Hanna, Bannayan-Riley-Ruvalcaba syndrome, Germany, January 25, 2019

Hanna wurde mit 28 Monaten BBRS diagnoszitiert.Schon bei der Geburt hatte sie einen schwachen Muskeltonus und erreichte keinen Entwicklungsmeilenstein.Sie hat eine Tracheomalazie und ständig Bronchiti...

Not Your "Normal" Pregnancy Itch

Not Your "Normal" Pregnancy Itch

Sharon, Intrahepatic cholestasis of pregnancy, United States, January 25, 2019

It was my first pregnancy - the first child for both my husband and I - we were elated! We had just been married 3 months when my pregnancy test showed that positive sign and we were excited to be sta...


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.