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Stories Of The Week

Noam nourrit les tamanoirs Noam nourrit les tamanoirs

NOAM, la joie de Vivre !

Fransquin Christelle, Duchenne muscular dystrophy, France, January 12, 2018

Bonjour à tous,Mon nom est Noam, j'ai 9 ans et demi, je vis en France et j'ai une dystrophie musculaire de Duchenne qui a été diagnostiquée pendant mes 3 ans.Je suis né au Vietnam, j'ai vécu à l'orphe...

Jen Jen

Elation to devastation

Sue dietschmann, Pulmonary capillary hemangiomatosis, United Kingdom, January 5, 2018

The photo is of my Daughter Jennifer Dietschmann who was 19 - (10 days from her 20th birthday ).Jeni was well happy clever and incredibly sassy .To all intensive purposes Jen as she liked to be called...

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ENZÖ Syndrome Myasthenique Congénitale

Cindy ROCH, ENZÖ Syndrome Myasthenique Congénitale, France, January 15, 2018

Je m'appelle Enzö j'ai 5 ansJe suis tout petit mais malgré la maladie j'ai pleins de rêves !Je suis né le 9 décembre 2012, 17 jours après ma naissance maman a compris que quelque chose n'allait pas, j...



Juan-Diego, Adducted thumb-clubfoot syndrome (under umbrella of Enhlers Danlos Syndrome(, United States, January 11, 2018

My son my warrior is now 13 years old and was born with a genetic rare disorder. A skin biopsy was performed  when he was five years old and his diagnoses was given-adducted thumbs club foot syndrome....

Janna Roberson Janna Roberson

Janna's Fight with PTEN/Cowden Syndrome

Janna Roberson, Cowden syndrome, United States, January 11, 2018

Janna has had several health problems throughout life, beginning at birth. Doctors told us that the health issues were not linked together. When she developed an unusual spot on her leg in December of...

Keveonna Gaither Keveonna Gaither

Keveonna Gaither Fight With Gorham's Stout Disease

Cecila Gaither, Gorham-Stout disease, United States, January 10, 2018

You know every time people meet my daughter they always ask me how did I find out my baby was sick. Well here it is. I first noticed a dent in Keveonna head when she was around 3. Me being the person/...

Adalynn’s first day of preschool 2017-18 Adalynn’s first day of preschool 2017-18

Adalynn’s PKU

Brittany Hall, Phenylketonuria (PKU), United States, January 10, 2018

A few days after bringing home my beautiful new baby girl, Adalynn, I received a phone call from her pediatrician. I assumed it was some sort of follow up call, but the smile on my face soon fell afte...

You have to be a bit mad to have a rare genetic disorder You have to be a bit mad to have a rare genetic disorder

We're really quite rare..

Becky Hopkins, Holt-Oram syndrome, United Kingdom, January 4, 2018

Where do I start?I met the most wonderful man in 1995.  I’d known him since I was 11 years old so we were friends before we reconnected. I knew he was not like other men as he had a disability and cop...

Teri Teri

Battle with a Brain Tumor / Cushing's Disease

Teri Hudson, Cushing's Disease, United States, January 4, 2018

Battle with a Brain Tumor / Cushing's Disease.My name is Teri Hudson I am one year post op / in recovery from Endoscopic Trans sphenoidal Resection of Pituitary Adenoma / Brain surgery to remove a ben...

My Everything My Everything

Can’t Keep Me Down

Jessica Thompson, Adhesive arachnoiditis & Tarlov cyst disease, United States, December 31, 2017

I was in a car accident my senior year of high school. Someone hit my car while I was at a dead stop. Little did I know that it would change my entire life and have me push through battles no teenager...

Gary 2017 Gary 2017

One in three million- Superficial Siderosis

Gary Daniel, Superficial Siderosis, United States, December 28, 2017

In January of 2014, our neurosurgeon called with great news. No sign of tumors. Gary could make arrangments to see if an otolaryngologist could discover the cause behind his rapidly declining hearing....

Folletto Vincy Folletto Vincy

Folletto Vincy

Loredana Pensabene, Phelan McDermid, Italy, December 13, 2017

Sono Loredana Pensabene e sono la mamma di Vincenzo 19 anni, folletto Vincy, affetto dalla Sindrome Phelan Mcdermid, una rara malattia genetica. La vita di Vincenzo non è una vita molto facile, perché...



serdar altıparmak, MOWAT WİLSON SYNDROME, Turkey, December 6, 2017

merhaba benim 6 yaşında TUNÇ adında bir oğlum var mws lu tedavisi olmayan bir sendrom oğlum bu sendromla ilişkili toplam 14 büyük 11 küçük operasyon geçirdi  oğlum %97 engelli yürüyemiyor konuşamıyor ...

Una Mirada de Esperenza Una Mirada de Esperenza

Síndrome de Noonan,No lo elegimos apareció en nuestras vidas hace 15 años

Marga, Noonan syndrome, Spain, November 22, 2017

Somos una familia como cualquier de vosotras,hace 15 años nacio Miguel y con el vino el Síndrome de Noonan,con el cual estamos luchando todos,y digo todos porque Miguel es el afectado pero todos los q...

Baby Frank at 7 weeks old Baby Frank at 7 weeks old

Baby Frank is a Fighter

Jennifer Zillins, Dilated cardiomyopathy, United States, November 21, 2017

I had an emergency c-section at 36 weeks. My Baby was born with a life threatening congenital heart defect called Dilated cardiomyopathy. He has been hospitalized since his birth 7 weeks ago. This is ...

10 Week Old David 10 Week Old David

Gavins Story

Natasha Tenner, Congenital adrenal hyperplasia, United States, November 15, 2017

My Son, Gavin was born and appeared to be a perfect healthy baby on August 28th 2017, weighing in at 7lb 8oz. Three days after being discharged from the hospital, my phone rang, on the other end was h...

My Youtube anything “Karl” was my altered person trying to bring smiles to situations at hand My Youtube anything “Karl” was my altered person trying to bring smiles to situations at hand


Todd Sledge, Pseudomyxoma peritonei, United States, October 18, 2017

On the night of September 9th 2016, I honestly felt as if I had a stomach virus or had eaten some type of bad food product. Within the early hours of Monday morning, the 12th, I knew something was wro...

Jai. Jai.

Landau Kleffner Syndrome

Michelle Whitelaw, Landua Kleffner Syndrome, Australia, October 13, 2017

My name is Michelle Whitelaw. I am from Brisbane Australia. My 13 yr old son, Jai Whitelaw, has Landau Kleffner Syndrome with EESES and Autism. He has idopathic refractory epilepsy. He was diagnosed i...

Marilena with her collage 'I am here for you' Marilena with her collage 'I am here for you'

Rare Diseases Day changed My Life (APS-1)

Marilena, Autoimmune polyendocrine syndrome type 1, Canada, February 28, 2017

I was diagnosed with Autoimmune Polyendocrine Syndrome-Type 1 over fifty years ago and had not met anyone with this condition until two years ago. The condition mainly includes chronic mucocutaneous c...

Raising awareness and compassion for Trimethylaminuria (TMAU) Raising awareness and compassion for Trimethylaminuria (TMAU)

Raising awareness and compassion for Trimethylaminuria (TMAU)

Crissan, Severe primary trimethylaminuria, Netherlands, February 27, 2017

Hi, my name is Crissan and I want to raise awareness for a metabolic condition called Trimethylaminuria. It all started after my 18th birthday. I developed Irritable bowel Syndrome (IBS) after two rou...

Nabila, who lives with Congenital factor V deficiency Nabila, who lives with Congenital factor V deficiency


Nabila, Congenital factor V deficiency, India, February 26, 2017

A blog all about raising awareness for Women with Bleeding disorders. I am a severe factor 5 Hemophiliac living in Ahmedabad, Gujarat, India and this is a blog about my life! I Nabila Husseni, female,...

"I have gained a good perspective on life which I am very grateful for." "I have gained a good perspective on life which I am very grateful for."

1 in a million!

Fiona, Ollier disease, United Kingdom, February 24, 2017

I'm Fiona - i'm 27 years old and was diagnosed with an extremely rare bone disorder when I was 7 months old. It is called Ollier's Disease and Maffucci Syndrome. It affects 1 in a million people (actu...


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