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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.

Respirando a Cura da Hap

YARA, Pulmonary arterial hypertension, Brazil, January 26, 2020

Minha História de Vida & Superação! Sempre fui uma criança arteira,amava me divertir correndo atrás das borboletas aos 05anos, era a minha brincadeira favorita,observar as cores,a textura e a dive...

Pyoderma gangranosuem

Pyoderma gangranosuem

Stacey, Pyoderma gangrenosum, United States, January 25, 2020

I'm currently 34 years old, I have had Rheumatoid arthritis since I was about 8. When I was 20 I had my right hip fused together as there was no cartilage left between my hip joint. At age 25 I was di...

Living with 2 rare diseases

Living with 2 rare diseases

Sarah, Hereditary spastic paraplegia, MAP2 Variant, United Kingdom, January 25, 2020

When our son Corey was born, he was happy and healthy with no sign of any health problems. We had no idea what the future held for us. It wasn't until Corey was around 9 month old that we realised he ...

My Thumb My Thumb

Being Different

Donna, Nail-patella syndrome, United States, January 23, 2020

Always knew I was different, but never knew anything other than "I was born with this." The typical symptoms of NPS (fingernails, elbows, tiny-baby-sized patellas [in my case]) were present at my birt...

Meine Reise von FMF Patient zur Gründerin / Präsidentin der Faromder Solidaritätsverein der Seltenen AID Erkrankungen

Meine Reise von FMF Patient zur Gründerin / Präsidentin der Faromder Solidaritätsverein der Seltenen AID Erkrankungen

Birsel, Amyloidosis FMF,, Germany, January 22, 2020

Ich wurde in einem kleinen Dorf in Gümüşhane , Türkei geboren. Als ich 7 Jahre alt war, kam ich mit meine 2 Geschwistern und meine Mutter Zweck Familien Zusammenfügung nach Deutschland zur unserem Vat...



Holly, Esophageal Cicatricial Pemphigoid, Bullous pemphigoid, United States, January 22, 2020

It struck suddenly and changed my life. One peaceful evening I began vomiting blood. After being released from the emergency room, I spent the next 3 days in agonizing pain; not even able to swallow m...

Daniyal Daniyal


SALMI, Mucopolysaccharidosis type 2, Malaysia, January 22, 2020

About  Daniyal He was born on 28th January 2016 delivered normally with no complication.  At that moment he brought us joy and laughter. Cute little boy as normal as other baby.When he was six months ...

Lily's Journey with SCN8A

Lily's Journey with SCN8A

Karen, SCN8A, United States, January 21, 2020

My daughter was born in March of 1998 and was delivered having a seizure.  The first diagnosis she received was Epilepsy at 1 month of age.  Over the next year, her seizures increased and her developm...

Branchio-oto-renal syndrome,daunes syndrome,joint hypermobility syndrome,normal pressure hydrocephalus

Branchio-oto-renal syndrome,daunes syndrome,joint hypermobility syndrome,normal pressure hydrocephalus

amy, branchio-oto renal syndrome, Ireland, January 21, 2020

hi my name is amy i have multiple conditions such as branchio-oto-renal syndrome, daunes syndrome joint hypermobilty syndrome, and normal pressure hydrocephalus very young and many more but there not ...

Noemi in Paris Noemi in Paris

Complex regional pain syndrome and spinal cords stimulation

Noemí, Complex regional pain syndrome, Spain, January 20, 2020

My name is Noemí, I am 27 years old and I live in Spain. I suffered from this disease since 2015, Complex Regional Pain Syndrome is a disease that affects the sympathetic nerve and produces a lot of ...

Treatment Day Treatment Day

Living Rare

Bridget, Afibrinogenemia, United States, January 20, 2020

My name is Bridget, I'm 24 years old, and I have a rare bleeding disorder called Afibrinogenemia. This is a type of bleeding disorder in which my body does not produce fibrinogen, a crucial blood clot...



Rachit, Isaac syndrome, India, January 20, 2020

AN ENCOUNTER & COPING UP WITH A RARE CONDITION                    by Rachit  This is written at a time when it’s as serious, an issue as Climate Change & Impact.Rare Health Conditions are mute...

#RareIs #RareIs

Growing Up Rare

Skyler, Alexander disease, United States, January 17, 2020

Eleven years ago, the unspeakable happened.  After a particularly bad month of dealing with migraines, my neurologist decided it was time for an MRI.  My doctor wanted to make sure nothing unusual was...

쇼그렌증후군, 척수병, 혈관염 등등 15살 때부터 17년동안 투병

쇼그렌증후군, 척수병, 혈관염 등등 15살 때부터 17년동안 투병

진웅, Sjogren's syndrome, myelitis, vasculitis, Korea. Democratic People's Republic of, January 15, 2020

안녕하세요!저는 15살 때부터 쇼그렌증후군과 척수염 그리고 혈관염 등의 질환을 투병중입니다.또한 저는 한국에서 살고 있고 신학대학교를 다니거 있습니다. 감리교신학대학교와 성결대학교를 다녔습니다다.저는 어렸을 때 아버지 없이 어머니 혼자서 저를 키우셨고 너무도 가난해서 나라에서 기초수급자로 등록되어있습니다.저는 하루하루 열심히 살아가면서 하나님의 기적으로 이...

Jackson's Journey

Jackson's Journey

Jessica, MECP2 Duplication Syndrome, United States, January 14, 2020

I’ve always been a worry wart when it came to my son, Jackson. Although I never wanted to find anything wrong with him, I always felt like there was something we were missing. Turns out I was right. T...

Swathi Swathi

Malaysia Pompe Warrior

Siva, Pompe disease, infantile onset, Malaysia, January 11, 2020

Swathi was born healthy on the 12th of April 2017. At the age of 6 months, upon prolonged boughts of pneumonia, a series of tests led to the shocking results of her diagnosis with Infantile Pompe dise...

A little support can make one stand tall A little support can make one stand tall

From Challenging Phases to Facing Challenges

Zoyeb, Ataxia with occulomotor apraxia, India, January 11, 2020

From Challenging Phases To Facing ChallengesStory of Zoyeb from Chennai / India - ATAXIAWritten by his father – Iftikhar -------------------------------------------------------------------------------...

Charm Charm

Stay With Me

sakon, Adenosine Kinase Deficiency, Thailand, January 5, 2020

Charm, 4-year-old girl from Thailand.She is ill with inherited metabolic disorders, Adenosine Kinase Deficiency. She is the only patient with this disease in Thailand and the world is still very rare....

Samuel’s story

Samuel’s story

Taylor, Isovaleric acidemia, United States, December 30, 2019

After a long labor and complicated c-section, our beautiful son Samuel was finally here! He was such a calm and alert newborn. I remember the nurses wheeling him into my recovery room, and he would ju...

Superhero snuggles Superhero snuggles

Superhero siblings

Blair, Common variable immunodeficiency, epilepsy, calcium deposits on brain, decreased white matter, rheumatoid idiopathic arthritis, von willebrand disease, Australia, December 26, 2019

My two little superhero's, My second daughter Maddee was born in January 2012, she was a perfect tiny 5 and half pound and 44cm  she fit in his sisters dolls clothes. Her sister and I were completely ...


Share your story

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