Filters

Lafora children

From the book “TACI”, by the author Snjezana Gajic, mother of a girl named Tatjana, who lost her battle of life against the Lafora disease.… Continue reading Lafora children

Read full story

Le Syndrome de Kleine-Levin, une lutte de tous les instants

Je pense que dans la vie chacun à son fardeau, ses angoisses, ses appréhensions, ses douleurs ses combats moi ; j’ai KLEIN C’est arrivé comme… Continue reading Le Syndrome de Kleine-Levin, une lutte de tous les instants

Read full story

Bella’s Story

Bella was born in 2003 and for the first few months of her life, we did not notice anything unusual, to us she was your… Continue reading Bella’s Story

Read full story

Living with CLOVES Syndrome

I was born with a rare congenital disease that baffled every doctor my parents took me to. It took until I was 14 years old… Continue reading Living with CLOVES Syndrome

Read full story

DDX3X

#WRRD2018 #DDX3X Little is understood about normal DDX3X function in the cell or how mutations within this gene can lead to cellular dysfunction and human… Continue reading DDX3X

Read full story

Pxe

I was diagnosed at 12 from lesions on my neck.  Also have angioid streams I  my eyes and heart murmur which I keep a check… Continue reading Pxe

Read full story

Our growing Champ community

Calum was diagnosed in September 2014 with a mutation of the CHAMP1 gene. We always knew he was a Champ! We are part of an… Continue reading Our growing Champ community

Read full story

Myotonic Dystrophy

In my mid-30s I was diagnosed with a rare disease — myotonic dystrophy type 1 — which my mother had been diagnosed with a few… Continue reading Myotonic Dystrophy

Read full story

THIEF GAUCHER

I am 26 years old. I am the face of Gauchers type 3b. I am a victim of its unmerciful uncaring and callous progression. Gauchers is… Continue reading THIEF GAUCHER

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!