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Running out of steam – Stiff Person Syndrome

Up to the age of 19 I was like a steam train that couldn’t be stopped. In February of 1999 I was diagnosed with Mono… Continue reading Running out of steam – Stiff Person Syndrome

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I Am A Medical Enigma

I never knew life without pain. It was my normal and it was the normal of all my adult family members. Growing up, I accepted… Continue reading I Am A Medical Enigma

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I always knew I was different

I was an active child, but as soon as I hit puberty I knew something was wrong. I starting becoming short of breath and had… Continue reading I always knew I was different

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Food makes me smell bad

I am a woman living with a disorder called Trimethylaminuria. Here’s a brief description by NHS Choice: “Trimethylaminuria is an uncommon genetic disorder that causes a strong… Continue reading Food makes me smell bad

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My POTS (Postural Orthostatic Tachycardia Syndrome) story

Hello. My name is Claudia Pinzon. I’m 31 years old. I would like to share my POTS story with you. I’ve been having lots of… Continue reading My POTS (Postural Orthostatic Tachycardia Syndrome) story

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Tuberoussclerosis TSC2

I had a normal childhood until I started having seizures in my sleep. I began to have them awake too. I had petite mal, grand… Continue reading Tuberoussclerosis TSC2

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Huntington’s Disease

I’m 18 years old and I’ve been diagnosed with Huntingtons since October. There’s no cure, it’s basically Alzheimer’s, Parkinson’s and MS in one disease.

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Jamie’s Story

My son Jamie was diagnosed in 2014 with MPS II or Hunter Syndrome. He is six years old. Hunter Syndrome affects every part of the… Continue reading Jamie’s Story

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Adam & Lea versus Sanfilippo

Around one year ago we were diagnosed with a rare disease – Sanfilippo syndrome – in age of just 2 years (Adam) and 7 months… Continue reading Adam & Lea versus Sanfilippo

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