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My son with 2 rare gnetic disorders – PPP2R5D and Schaaf Yang syndrome

My 3 year old son Cooper was born with not one, but two rare genetic disorders – PPP2R5D and Schaaf Yang Sydrome. He is currently the… Continue reading My son with 2 rare gnetic disorders – PPP2R5D and Schaaf Yang syndrome

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CVID and what it means for me.

I was diagnosed with CVID or Common Variable Imunodeficiency and Hypogammaglobulinaemia in 2011 and started treatment, which was white blood cell ifusions every three weeks… Continue reading CVID and what it means for me.

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Kallmann syndrome – Being left behind.

I was labelled as a “late bloomer” or “late starter” as a teenager and the label stuck until I was finally diagnosed with Kallmann syndrome… Continue reading Kallmann syndrome – Being left behind.

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Jennifer’s Story

Jennifer was born on January 13, 1981 in the Municipality of Pakil, Province of Laguna, Philippines. During her infancy, her female characteristics are more apparent… Continue reading Jennifer’s Story

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Jennifer’s Story

Jennifer was born on January 13, 1981 in the Municipality of Pakil, Province of Laguna, Philippines. During her infancy, her female characteristics are more apparent… Continue reading Jennifer’s Story

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Do you believe in Unicorns ?

My name is Noah Victoria and I am a soon to be 21 years old. I  may look like a normal young adult woman on… Continue reading Do you believe in Unicorns ?

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My Mission

I am fighting a debilitating rare autoimmune disease called Multifocal Motor Neuropathy (MMN). Thankfully, it is not fatal and only affects the motor nerves (limbs… Continue reading My Mission

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Just Jack

This is my 11 year old son Jack. He is the most endearing, loving and inspirational little guy I have ever known. I am biased… Continue reading Just Jack

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As if one rare disease wasn’t enough… first Gauchers. Now eosinophilic gastroenteritis

double wammy and thanks to Shire now on both Velaglucerase for Gaucher but also Lialda for ulcerative colitis discovered in July after months of vomiting… Continue reading As if one rare disease wasn’t enough… first Gauchers. Now eosinophilic gastroenteritis

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