Meet our heroes

These people are living with a rare disease and educating the wider public.

Reza’s Story

Cystinosis

Thirteen-year-old Reza lives in Iran with his family, and he is also living with a rare disease called Cystinosis. Within the past century, Cystinosis has… Continue reading Reza’s Story

Read full story

Nitzia’s Story

Turner syndrome

As a child, Nitzia attended medical appointments for nine years across four different hospitals before she was finally diagnosed with Turner syndrome.

Read full story

Jelena’s Story

Cystic Fibrosis

Jelena finds it difficult to breathe as her lungs do not function properly. Unlike someone who has a more common condition, such as asthma, Jelena… Continue reading Jelena’s Story

Read full story

Shambhavi’s Story

Alagille syndrome

Frequent visits to doctors and hospitals form many of Shambhvai’s earliest memories. To her frustration, she kept being treated for individual symptoms as opposed to… Continue reading Shambhavi’s Story

Read full story

Zixuan’s Story

Mucopolysaccharidosis type 1

Zixuan was two years old when her family started the long process of trying to find a medical diagnosis for her increasing array of symptoms.… Continue reading Zixuan’s Story

Read full story

Tshepiso Gloria’s Story

Von Willebrand’s Disease

For over twenty years Tshepiso Gloria coped with a bleeding disorder before eventually being diagnosed. She went from doctor to doctor, hospital to hospital and… Continue reading Tshepiso Gloria’s Story

Read full story

Wafic’s Story

Duchenne Muscular Dystrophy

Soon after Wafic from Lebanon was born, his parents realised something did not seem quite right. After having spent a worrying few months in hospital… Continue reading Wafic’s Story

Read full story

Syafiq’s Story

Hypohidrotic Ectodermal Dysplasia (HED)

I am Syafiq from Malaysia and I am living with Hypohidrotic Ectodermal Dysplasia (HED). I love hiking in the jungle and jogging (which previously I… Continue reading Syafiq’s Story

Read full story

Regina’s Story

Leiomyosarcoma

Sou mãe de 3 meninos, 2 deles com uma doença rara chamada MUCOPOLISSACARIDOSE Tipo VI. Meu mais velho, Nilton faleceu aos 6 anos devido à… Continue reading Regina’s Story

Read full story

Vasco’s Story

Gaucher Disease

6-year-old Vasco from Peru loves to play, paint, dance and read. But most of all, he loves spending time with his family. It took three… Continue reading Vasco’s Story

Read full story

Nada’s Story

Epidermolysis Bullosa

22-year-old Nada, whose life has been impacted by a rare disease that makes it difficult for her to move, read and swallow, has got a… Continue reading Nada’s Story

Read full story

Taka’s Story

Retinitis Pigmentosa

Hi! My name is Taka, and I’m 36 years old from Japan. I was diagnosed with Retinitis Pigmentosa, a rare eye disease, when I was… Continue reading Taka’s Story

Read full story

Angelina’s story

Calcium/calmodulin dependent serine protein kinase (CASK)

My 5-year-old daughter, Angelina, is living with CASK-gene related disorders – more precisely, she is living with an X-linked intellectual disability, microcephaly with pontine and… Continue reading Angelina’s story

Read full story

Harvey’s story

Spinal Muscular Atrophy

My son Harvey has a rare condition; SMA, in full Spinal muscular atrophy type 1, which is the more severe type of the disease. Harvey’s… Continue reading Harvey’s story

Read full story

JK’s story

Osteogenesis Imperfecta

My name is Jon-Kristian, but you can call me JK! I am 12-years-old and I live in Norway with my family. I am living with… Continue reading JK’s story

Read full story

Tristan’s story

Sickle cell anemia

Hello everyone! My name is Tristan from the United States and I am living with Sickle cell anemia. My passion in life is fashion, design,… Continue reading Tristan’s story

Read full story

Rui’s CDA1 Story

Rui was born on 20th of February 2022 with severe jaundice, enlarged spleen and enlarged liver. We spent 20 days on the special care baby… Continue reading Rui’s CDA1 Story

Read full story

Avery’s Fight With NKH

Avery has Glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect… Continue reading Avery’s Fight With NKH

Read full story

Hereditary colon cancer live-case presentation

My name is Dan, retired U.S. Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and 10 year hereditary colon cancer WARRIOR w/a permanent ileostomy.… Continue reading Hereditary colon cancer live-case presentation

Read full story

IL PICCOLO GRANDE GUERRIERO SIMONE

Mi chiamo Simone e sono nato il 22 febbraio 2014 a in provincia di Torino. La mia nascita è stata una grande gioia per mamma… Continue reading IL PICCOLO GRANDE GUERRIERO SIMONE

Read full story

My daughter

When my oldest daughter was born, I was young, she was prefect. A new beautiful baby girl, no one could have guessed that 6 weeks… Continue reading My daughter

Read full story

Finding hope in chronic illness

Hello, I am Youssra. I suffer from a disease, I think it’s rare because I haven’t found the cure to it yet. My story started… Continue reading Finding hope in chronic illness

Read full story

She believed she could, so she did.

Alicia has a passion for helping others. She is a manager for a charity who helps individuals and children experiencing homelessness. In her free time,… Continue reading She believed she could, so she did.

Read full story

Our Jerguš is a creative and fun boy! Why should we convince him he’s sick?

We found out during pregnancy. Jergus dad had a classmate with this diagnosis so he knew it and was not a big tragedy. But parents’… Continue reading Our Jerguš is a creative and fun boy! Why should we convince him he’s sick?

Read full story

The way people see me!

In 2008 when I was leaving one job and going to another I’ll send started having problems with tunnel vision and by the time I… Continue reading The way people see me!

Read full story

Are you looking at me?!

Hello! I’m Elodie and i’m 16 years old. When I was born, I was diagnosed with Duane Syndrome, means I have a nerf in my… Continue reading Are you looking at me?!

Read full story

“It’s all in your head.”

What was supposed to be a routine cleaning at the dentist led to being diagnosed with two chronic diseases. Between checking for cavities and reminding… Continue reading “It’s all in your head.”

Read full story

My Life with episodic ataxia

Why it took 28 years to officially be diagnosed with cacna1a rare gene mutation aka episodic ataxia-2 ? “Finally someone listened” I have a rare… Continue reading My Life with episodic ataxia

Read full story

SeAndrea’s Myasthenia Gravis Story

On June 3, 2003, the neurologist said, “You have Myasthenia Gravis”. I was 18 years old and had just finished my freshman year at Purdue… Continue reading SeAndrea’s Myasthenia Gravis Story

Read full story

Pituitary Cancer, Addison’s Disease, and everything in between

To begin, I am truly honored to be considered a “Hero” of Rare Disease and share my story with the world. While the diseases and… Continue reading Pituitary Cancer, Addison’s Disease, and everything in between

Read full story

Living with Angelman Syndrome-UPD

Conner is 7, he went undiagnosed until he was 5 years old, when the pandemic hit it took us 4 months to get our genetic… Continue reading Living with Angelman Syndrome-UPD

Read full story

A Life Without Pain

Our daughter, Bianca was diagnosed with HSAN IV (hereditary sensory autonomic neuropathy) also known as CIPA (congenital insensitivity to pain with anhidrosis) at age 8… Continue reading A Life Without Pain

Read full story

My aplastic anemia story

In august 2020 I started developing bruises all over my body, that would not heal for weeks, got blood tests done and was diagnosed with… Continue reading My aplastic anemia story

Read full story

Mein neuer Reisebegleiter: Paranodopathie

Ich bin Wiebke, 35 Jahre alt, und lebe seit Oktober 2020 mit einer sehr seltenen neurologischen Autoimmunerkrankung namens Paranodopathie. Innerhalb eines halben Jahres wurde ich… Continue reading Mein neuer Reisebegleiter: Paranodopathie

Read full story

Two rare babies

Our story began in feb 2016 when our baby boy was diagnosed with GA1 , we had never heard of GA1 despite our other 5… Continue reading Two rare babies

Read full story

Just a boy with a rare disease

Hi my name is Logan. I am 11 years old turning 12 on April 24. I was diagnosed with Loeys-Dietz syndrome type two in October… Continue reading Just a boy with a rare disease

Read full story

Brighter days are coming

I turn 28 this year. I thought my 20’s were supposed to be the most exciting and fun of my whole life, but I have… Continue reading Brighter days are coming

Read full story

Overcoming Challenges One Breath at a Time

My name is Jay i and I am 30 year old individual diagnosed at birth with an invisible disability known as Congenital Central Hypoventilation Syndrome… Continue reading Overcoming Challenges One Breath at a Time

Read full story

Hope for AADC Deficiency Community

Our daughter Rylae-Ann was born with a rare neurotransmitter disorder known as aromatic l-amino acid decarboxylase deficiency or AADC Deficiency for short. This disease affects… Continue reading Hope for AADC Deficiency Community

Read full story

The Big Sunflower Project

My name is Toni and I am the founder of The Big Sunflower Project which raises awareness of the rare neuromuscular conditions called centronuclear and… Continue reading The Big Sunflower Project

Read full story

Fighting for my eyes, fighting to be seen

I had worked with computers my entire adult life, long hours in front of the computer take their toll on your body and your eyes… Continue reading Fighting for my eyes, fighting to be seen

Read full story

Tango2 Warrior

Lillian is a beautiful, smart and loving 2 year old. When she was 14 months old she was unresponsive on the morning of September 26,2020.… Continue reading Tango2 Warrior

Read full story

Logan’s story

My husband and I met for dinner at a local restaurant, quickly ordering and trying to scarf some food down before Logan woke up and… Continue reading Logan’s story

Read full story

Adam, The AI Warrior

Dobrý deň or should I say hello 🙂 I am Adam but to my followers, I am known as the AI Warrior. I am 12… Continue reading Adam, The AI Warrior

Read full story

Living Beyond HAE

My name is Maddie, and I’m from Pittsburgh, Pennsylvania in the US. I have Hereditary Angioedema, which is a rare and potentially life-threatening genetic condition… Continue reading Living Beyond HAE

Read full story

Self Advocacy: A young timid girl to an outspoken woman

When I was 11, I was diagnosed with Brown syndrome. Brown Syndrome is the common name for 4th nerve palsy, a rare disease impacting your… Continue reading Self Advocacy: A young timid girl to an outspoken woman

Read full story

NJA > NKH

Nora Jane Almany was born on Monday, July 4, 2016. I had a normal pregnancy and normal delivery. When Nora arrived that evening, she did… Continue reading NJA > NKH

Read full story

Making the Most of Now

I am Clive, an active, fit, and to the naked eye a healthy British Army veteran. In 2019, after several years of deteriorating function and… Continue reading Making the Most of Now

Read full story

My hero

Meet Tommy. See this beautiful smile and happy boy. He loves school, his riding therapy, going to local little league, watchimg music on his ioad.… Continue reading My hero

Read full story

She Rejoices in Hope

Hello my name is Michelle, I am a 45 year old rare disease warrior … My story, well where do I begin… I recall the… Continue reading She Rejoices in Hope

Read full story

My Hero

My name is Zhana. I’m a mother of one-year-old Dachi. He has a rare genetic mutation of SCN2A Gene. From the third day of his… Continue reading My Hero

Read full story

Jimena Mañán Mena

Jimena tiene 5 años, era una recién nacida sana, al quinto día de nacida tuvo varias convulsiones, y desde ese momento inició un largo trayecto… Continue reading Jimena Mañán Mena

Read full story

Alex is totally Jawsome!

On April 18, 2013, my husband and I drove to the hospital for a scheduled C-section ready to welcome our 3rd son to our family.… Continue reading Alex is totally Jawsome!

Read full story

Madre e hija viviendo con una Enfermedad Rara

Fui Mamá a mis 24 años, mi hija desde bebé presentó problemas de salud, Asís 18 años ella empezó a mejorar y yo a mis… Continue reading Madre e hija viviendo con una Enfermedad Rara

Read full story

Finding Our Moon’s Mission: to cure SPG56

This year we will be dressing in rainbow stripes for #RDD2022. Would you like to know why? In 2020 our family was growing just as… Continue reading Finding Our Moon’s Mission: to cure SPG56

Read full story

Pika Bindi ~ rare genetic disorder called EEF1A2

Living with rare genetic disorder EEF1A2 ~ Pika Bindi 🌞🌞🌞 Pika’ s representative card to EEF1A2 group My daughter Pika Bindi is 14 years old… Continue reading Pika Bindi ~ rare genetic disorder called EEF1A2

Read full story

My journey with CVID

I’m Evangelia. I live in Athens, Greece and teach English as a foreign language. I love cats and I definitely have a mild addiction to… Continue reading My journey with CVID

Read full story

From a athlete to a cancerpatient

I was a half marathon runner, in good shape. I hade no signs that something could be wrong in my body. It was a regular… Continue reading From a athlete to a cancerpatient

Read full story

Luchar diariamente

Mi nombre es Manuel tengo 12 años y soy de Argentina.Hace casi 3 años me diagnosticaron Paraparesia espastica hereditaria del tipo 5 spg5a enfermedad neurologica… Continue reading Luchar diariamente

Read full story

Nora notre phénomène

Nora est née le 3 mars 2016. Elle est atteinte d’une maladie neurodégénérative rare PKAN d’origine génétique. Rien ne nous fait penser que Nora n’est… Continue reading Nora notre phénomène

Read full story

A slow Eclipse

In 2018 I was diagnosed with a rare, inherited retinal disease called Retinitis Pigmentosa. RP is an umbrella term for a host of eye conditions… Continue reading A slow Eclipse

Read full story

The Strength is Within Us

My journey began at 13 when swelling from an extraction never went down so had to get a biopsy done on my jaw. I was… Continue reading The Strength is Within Us

Read full story

Sia Strong

In 2019 our daughter was diagnosed with epilepsy. We noticed a decline in abilities and trouble with walking so we had further testing done. An… Continue reading Sia Strong

Read full story

My life with Friedreich’s Ataxia

My name is Natache Iamaya. I’m from Rio de Janeiro. I have Friedreich’s ataxia, a rare genetic disorder that damages the nervous system and impairs… Continue reading My life with Friedreich’s Ataxia

Read full story
What's your story?

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity!

Share your story

Share your colours

Join the community. Help us build awareness. Share your photos, videos and experiences!