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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.
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...

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 ...

My struggle with Pemphigus

My struggle with Pemphigus

Natasha, Pemphigus vulgaris, United Kingdom, December 23, 2019

In April 2017 I started getting 'ulcers' in my mouth that just wouldn't go! I visited the dr who said there was nothing they could do just deal with it! (lovely) After another 3 months I went back and...

Carina’s back Carina’s back

My miracle journey

Carina, Ehlers-Danlos syndrome, kyphoscoliotic type, United States, December 14, 2019

I would like to share my miracle story with others to help inspire them and give them hope it’s a way of me paying it forward. My name is Carina and I was born in 1974 in Buenos Aires, Argentina to It...

Twin Anaemia Polycythemia Sequence - The Red and White Twins. Twin Anaemia Polycythemia Sequence - The Red and White Twins.

The Red and White Twins

Stephanie, Twin Anaemia Polycythemia Sequence, Netherlands, December 13, 2019

At 10 weeks pregnant, I can still remember the look on my ultrasound technician's face.  "They told you you were having a baby? " Well, here it is! And ... here's the other one! It's twins!I was shock...

A tell tale, unprovoked, mysterious purple bruise. A key symptom of ITP A tell tale, unprovoked, mysterious purple bruise. A key symptom of ITP

Always Tired and Bruising Like a Peach

Anthony, Immune thrombocytopenia (ITP), United Kingdom, November 21, 2019

After over 13 years of living with my ITP I can reflect upon plenty of incidents during that time. It has certainly been eventful, to say the least.It all started in 2005 when I began getting random p...

Chylles Chylles

Chylles' ROHHAD Fight

Stacie, ROHHAD, United States, November 6, 2019

Chylles  was healthy, high energy little girl with no fears, no worries & full of life. That's before she was affected by ROHHAD symptoms just prior to her 3rd birthday. After a year long battle w...



Ernestina (Ernie), Silver-Russell syndrome, United States, October 27, 2019

I had to show my California ID, when I was already over 18 to a lady that works at Walmart so I could get a sample of a pizza that was being sold. Yup, just for a slice of pizza, I mean I laughed it o...

No limitations

No limitations

Larry, Klippel-Feil malformation, United States, October 25, 2019

Hello, This is not my story, but of my grandson. Back in 2012, I was blessed with my first grandchild. Jayden came into our lives and we were blessed. In the hospital, I noticed that something wasn't ...

A Rare Reality

A Rare Reality

Shilpi, GNE myopathy, India, October 22, 2019

A short film on GNE Myopathy patient Shilpi and narrated in her own words. Shilpi is a lawyer and currently teaches at O.P Jindal Global University. It was only in her twenties that she learnt that sh...

My son has donnai barrow syndrome

My son has donnai barrow syndrome

Tarah, Donnai-Barrow syndrome, United States, October 20, 2019

My son was diagnosed with Donnai-Barrow syndrome. 

Sudden loss of leg control

Sudden loss of leg control

juares, Undiagnosed, Spain, October 13, 2019

Time to time, suddenly, I lose control and sensitivity in my legs. Then I fall down.It's long for aprox. 15 minutes.Nobody knows what is it.

Rare kidney syndrome with no public awareness

Rare kidney syndrome with no public awareness

Jessica, Renal nutcracker syndrome, United States, October 11, 2019

I was diagnosed with Nutcracker syndrome 2 years ago. I had multiple unexplained symptoms for years that all resulted from this rare syndrome. It wasn't until I had an appointment with a new doctor, t...

Battling MWS (Muckiest-Wells Syndrome)

Battling MWS (Muckiest-Wells Syndrome)

B, Muckle-Wells syndrome, United States, October 10, 2019

By the summer of 2016, we've been to just about every doctor possible and through countless procedures in the hopes of finding answers with what's going on with with my daughter. It was also the summe...

Simona Simona

Simona's Story

Grasiela, Hypotonia-speech impairment-severe cognitive delay syndrome, Poland, October 3, 2019

Simona is a 13 year old Polish girl who was born on the 21st April 2006 in Wexford General Hospital. At birth everything was fine but after 3 months developmental issues started to show. Simona has be...

رحلة كفاح

رحلة كفاح

هبه, Mucopolysaccharidosis type 4, Somalia, September 28, 2019

فتاة تبلغ من العمر 18 سنه عاشت حياتها مع مرض نادر هو مرض عديد السكاريد المخاطي من النوع الرابع اكتشفت بهذا المرض عندما كان عمرها 9 سنوات، وهذا المرض جعلها تعيش حياتها بين المستشفى و بيت ولكن هي لم تست...

My Journey - EGPA Style

My Journey - EGPA Style

Paul, EGPA, Congenital myasthenic syndrome, Australia, September 25, 2019

Hi I’m Paul and this is my story so far….A long time ago in a galaxy far beyond the black stump lived a hermit trying to get by with his electrical contracting business. This hermit was supposed to ha...


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