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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.
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...

Living without an immune system for a while

Living without an immune system for a while

Roman, Juvenile dermatomyositis, JDM, United States, February 29, 2020

When I was three, which I am 9, I was diagnosed with Juvenile Dermatomyosistis, which was medium severe. My mom took me to the doctor to see if I was okay. I visited a rheumatologist to see what was h...

Va de l'avant... Va de l'avant...

Nouvelle direction

Pat, FMD fibromuscular dysplasia, Switzerland, February 29, 2020

Bonjour, Je m'appelle Patricia j'ai 56 ans et je suis mariée, j'ai deux filles de 36 et 34 et deux petits enfants de 10 et 8 ans. En 2018 je n'étais pas vraiment en forme avec des sortes de malaises. ...

5 years ago I woke up and my voice was gone. This is my story. 5 years ago I woke up and my voice was gone. This is my story.

#VoiceForNora

Nora, Eagle Syndrome, Austria, February 29, 2020

Hi there! :) My name is Nora. I am secretly writing poems in Austria & I've been trying to recover from chronic pain for years. • I had a rare disease called “Eagle Syndrome” (0,16% worldwide). • ...

Doctor Nito checking his patient Doctor Nito checking his patient

Q Fever

Sam, Q fever, United Kingdom, February 29, 2020

Hi, I'm Sam, and I have chronic q fever.There are around 50 of us in the uk, and less than 5% have the chronic form like me, most have the acute form which can be treated.I caught it while working as ...

Me and ET Me and ET

Me and ET

Lynn, Essential Thrombocythemia, United Kingdom, February 29, 2020

Hi, I was Diagnosed with Essential Thrombocythemia, jak2+  on September 11th 2012 after having a few blood tests.  When I was told it was a rare type of blood cancer, like 1 in 150,000, I couldn't get...

Netherton Syndrome

Netherton Syndrome

Wendy, Netherton syndrome, United Kingdom, February 29, 2020

My son was born with Netherton Syndrome 45 years ago and apart from yearly visits to the Rare Disease Clinic at St Thomas Hospital we have never had any support from anyone.  He uses mainly Yellow Sof...

Stronger than CAH Stronger than CAH

Born Strong

Candice, Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, Africa, February 29, 2020

Having been born with CAH teenage years were really hard.  I was ashamed, embarrassed and annoyed. It made me really angry.  Now in my 30s I realize it's who I am, I'll never be skinny, I'll never not...

How to live with HHT

How to live with HHT

Ted, HHT, Hereditary hemorrhagic telangiectasia, Ireland, February 29, 2020

I am 71 yrs of age, I've have HHT all of my life, my father, his three sisiters and his three brothers all had HHT. my aunt Nora bled to death with the condition in 1973, my brothers Pat and Johnny bo...

Hugo Hugo

Celebrate Rare Diseases

Christie, MECP2 Duplication Syndrome, Australia, February 29, 2020

My son, Hugo, was diagnosed with a rare genetic condition called MECP2 duplication Syndrome when he was 11 months old. This was not a diagnoses we were expecting nor did we know anything or anyone wit...

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