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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

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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

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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

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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

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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

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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

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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

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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

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What It Is Like Having a Rare Disease

Here is my account of living with a rare disease; Pure Autonomic Failure where my bladder and bowel failed to function normally. Now I have… Continue reading What It Is Like Having a Rare Disease

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