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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.
Katina Katina

Mi viaje al hospital

Karla, Síndrome de Upshaw Shulman, Upshaw-Schulman-Syndrome, Mexico, February 29, 2020

Hola, mi nombre es Katia, fui diagnosticada con el Síndrome de Upshaw-Shulman, que es una enfermedad de la sangre, no produzco ADAMS13 que hace que las plaquetas se mantengan juntas por lo que deben d...

rare day rare day

Rare Day

Catarina, Scleroderma, Portugal, February 29, 2020

A RARE DAYToday, February 29, a rare day, is also the day chosen to remember rare diseases.In the European Union, it is considered a rare disease that one that affects less than 1 in 2,000 people.Each...

First Grade Teacher Photo First Grade Teacher Photo

FAP Daughter of a FAP Warrior

Leah, Familial adenomatous polyposis, United States, February 29, 2020

I am a third-generation FAPer benefitting from my mom's extensive experience living with FAP. There has been one in each generation since my maternal grandfather mutated the gene. His doctors thought ...

8 months later 8 months later

Guillain-Barre Syndrome: What’s That?

Mary Beth, Guillain-Barré syndrome, United States, February 29, 2020

I was hospitalized in June 2019 for an infected finger & I had developed cellulitis. I got a tetanus shot in the ER & was hospitalized for 3 days. Two weeks later, I started to feel sluggish. ...

Right After Last Lung Biopsy Right After Last Lung Biopsy

Wegeners

Kay, Wegener's granulomatosis, United States, February 29, 2020

When I was 21 my body started hurting all the time. I couldn't do the simplest of tasks and my husband had to help dress me. I cut off all my hair because lifting my arms to brush my hair hurt too muc...

Helpless and hopeful

Helpless and hopeful

Amariah, Brucellosis, United States, February 29, 2020

3 years, I never would have thought 3 years ago that I'd still be battling Brucella. I contracted brucella from working with cattle. When I got diagnosed I thought "ok, no problem. I'll take my antibi...

Living Life Living Life

Syringomyelia/Syringobulbia

Stephanie, Syringomyelia/Syringobulbia, Canada, February 29, 2020

I was diagnoised with Syringomyelia and Syringobulbia in 2009. I will always remember the day that I went to hang up a jacket and I dropped to the floor. Never felt that kind of pain before in my life...

Candace Plasmapheresis Candace Plasmapheresis

Myasthenia Gravis

Candace, Myasthenia gravis, Canada, February 29, 2020

I was diagnosed in May 2007. My right eyelid started drooping, and I thought nothing of it. A few days later, the drooping was not going away so I decided to see my doctor, who immediately advised tha...

Stiff Person Syndrome - My Diagnosis

Stiff Person Syndrome - My Diagnosis

Debbie, Stiff Person Syndrome, T1-Diabetes, Hashimoto's Thyroiditis, United States, February 29, 2020

February 18, 1994.  It was the day four - five years of elusive and progressive symptoms finally captured my entire body into a rigid, trembling immoveable mass.  Frightened to my soul and in tears, m...

Cchs strong Cchs strong

Ondine’s Curse

Santino, Congenital central alveolar hypoventilation-Hirschsprung disease syndrome, Canada, February 29, 2020

I was diagnosed with Congenital central hypoventilation syndrome and hirschprungs disease when i was just 1 month old. My parents fought hard for my life as the hospital tried to extubate me so many t...

Krystof, 5 years old Krystof, 5 years old

Living with VARS

Nicoleta, VARS, United States, February 29, 2020

Krystof is 5 years old, and 3 years ago he’s been diagnosed with VARS syndrome! The geneticists said it’s a new and rare disease, and they had no name for it but they called it VARS due to the gene wi...

The Children The Children

My PHTS family

Corrie, PTEN hamartoma tumor syndrome, United States, February 29, 2020

When my son Levi was born in June 2015, I was blessed with the most amazing miracle God could ever have given me. Even though his head circumference was greater than the 99 percentile throughout the t...

Ashton’s bright smile Ashton’s bright smile

Ashton’s Journey with Arthrogryposis

Ashton, Arthrogryposis multiplex congenita, United States, February 29, 2020

Ashton was born on February 28, 2019 which was Rare Disease Day last year. He was born with a rare condition called Arthrogryposis Multiplex Congenita which is two or more joint contractures of the bo...

Rare disease day Rare disease day

Ehlers Danlos Syndrome (hEDS), Erythromelagia

Kate, Ehlers-Danlos syndrome, United Kingdom, February 29, 2020

I have suffered from dislocations most of my life mainly in my ankles and hips. But after a period of really bad health in my late teens I was referred to a specialist rheumatologist and diagnosed wit...

19 years later I got my diagnosis

19 years later I got my diagnosis

Laura, Bile acid synthesis defect with cholestasis and malabsorption, United Kingdom, February 29, 2020

I have Bile Acid Malabsorption - a rare disease that affects the digestive tract, predominantly the intestines.My symptoms started at 11 years old, I suddenly had severe abdominal pains, frequent urge...

EDS

EDS

Kate, hEDS, Hypermobile Ehlers-Danlos syndrome, United Kingdom, February 29, 2020

I have had health problems related to dislocations and hypermobility my entire life but after a period of bad health in my late teens was referred to a rheumatologist who diagnosed hEDS. I have proble...

Neurofibromatosis

Neurofibromatosis

Adah, Neurofibromatosis type 1, United States, February 29, 2020

I was diagnosed at age 5 I'm now 12 and still going strong! I have tumors on my pelvis and optic nerve!  *Find others with Neurofibromatosis type 1 , Neurofibromatosis type 2 and Schwannomatosis on Ra...

TRANSVERSE MYELITIS

TRANSVERSE MYELITIS

Janet, Transverse Myelitis,, Canada, February 29, 2020

Well first off TM is so rare even the Rare disease scroll doesn't have it on there!!! She doesn't have ADEM but it was the closest. Daughter was 7 when TM hit. Within 20 minutes she was paralysed from...

CDH not a disease but just as rare

CDH not a disease but just as rare

Mellissa, Congenital diaphragmatic hernia, United States, February 29, 2020

Allie is a 4 year old survivor of a birth defect called Congenital Diapraghmatic Hernia. This defect caused a hole in her diaphragm that allowed abdominal organs into her chest such as stomach, intest...

Conquering the Arctic with a white cane Conquering the Arctic with a white cane

You don‘t need Sight to have Insight

Luana, Aniridia, Switzerland, February 29, 2020

I was born in 1999 and diagnosed with aniridia, glaucoma and nystagmus (the latter are frequently occuring secondary diseases of aniridia) shortly after.  I underwent surgery for the first time at two...

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