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Humans of Rare Disease 

This is

Your Space

Welcome to Humans of Rare Disease

This collaborative effort features people in the rare disease space: patients, advocates, researchers and healthcare professionals alike. We have encouraged them to share their stories and offer readers a window into their lives. Enjoy and share!

Check out our Rare Disease Community Below!


“My name's Alex l'heureux-Paquette, I'm 28 now and I am disabled by this disease called Susac Syndrome. This orpheline auto-immune disease makes the immune system attack our own body in 1-3 symptoms that are called the triad if we have them all. The first symptom is the ear attack that can bring inner-ear damage, can make you deaf and/or balance problems. The second attack is to the eyes that cause a loss of peripherical view that can make us nearly blind by blocking the veins of the eyes. The...

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Susac Syndrome


"Je me nomme Audrey, le 28 février prochain j’aurais 29, je suis née avec le syndrome de Vacter qui est une maladie orpheline et rare. Le nom sonne comme une maladie compliquée dis comme ça, pour simplifier je suis venu au monde avec une dizaine de malformations congénitales allant de l’atrésie de l’œsophage jusqu’à la reconstruction de la vessie, moi j’aime bien dire que ma maladie et un jeu de domino qui n’a jamais de fin, quand on répare quelque chose autre chose doit être éventuellement fixé...

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Syndrome de Vacterl


"My name is Julia, and during my first semester at McGill University in Fall 2016, I developed an extremely rare autoimmune disease. I had to leave Montreal after doctors at MUHC gave up on finding what I had (they refused to test beyond lupus), with my mental health in shambles and still having no clue what was happening to my body. After nearly dying in late December 2017, I was finally diagnosed with a rare form of vasculitis, which has no known treatment. I'm still learning to cope with havi...

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Hypocomplementemic Urticarial Vasculitis


“The world used to be round, and I used to be normal”. Genny’s symptoms first began at the age of twenty-eight, during an already tumultuous time in her life. She suffered a miscarriage, but persistence eventually brought life to her second of three children. At the time, Genny was dedicated to working seven days a week on her very own dairy farm and now playfully admits that she sought out fatigue. As I write this description of Genny’s situation, I don’t wish to make readers feel sorry for her...

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Idiopathic Hypersomnia

**An excerpt from "A Dairy Farmer's Almanac to Idiopathic Hypersomnia" by Andrei Aldea written for the 2018 Global Genes Essay Contest.**


"My name is William A. Monday and I am a 23 year old CDH survivor. I was born on June 1st, 1995 at Bay Hospital in Panama City, Florida. Upon birth it was discovered that I had hole in my diaphragm and several of my abdominal organs had migrated into the left side of my chest. I was life flighted within hours to Pensacola, Florida and had the first repair attempt there before I was life flighted on to University of Florida Shands Hospital in Gainesville, Florida where the rest of my thirteen sur...

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Congenital Diaphragmatic Hernia


"This is Jarmal Waitman Jr. , he is known as Mali to everyone. Mali was diagnosed with ataxia telangiectasia about 7 years old. I was devastated as a parent but, 8 years later Mali has been blessed to accomplish life and still be a kid. He doesn't allow his short breaths or limited mobility to slow him down. He cannot do everything he used to do such as buttoning, zipping, brush his teeth alone or care for his hygiene. There is much assistance that's provided from his parents and teachers. Mali...

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Ataxia Telangiectasia


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