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My life with 2 NIH Rare Diseases

Hi Everyone! Thank you so much for taking the time to visit my page and hear my story… I am going to tell you about… Continue reading My life with 2 NIH Rare Diseases

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BASM Syndrome

Our son was born with BASM Syndrome (Billiary Atresia Splenic Malformation). Billiary Atresia occurs in 1 out of every 18,000 people. What our son has… Continue reading BASM Syndrome

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Born with hirschprungs

Our son Shane was diagnosed with Hirschsprung’s disease at about 3-5 days old. Something we had no idea existed. We were in the hospital getting… Continue reading Born with hirschprungs

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The Four Marin Siblings

My story is about my husband, John, and his three sisters, Lora, Marcia and Cindy. The siblings each had a 50/50 chance of inheriting the… Continue reading The Four Marin Siblings

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bundaberg queensland australia

i have a 13 yr old girl with a rare syndrome called proteus syndrome here is only about 200 people in the world with this… Continue reading bundaberg queensland australia

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ADCY5

Meet Lilly, a 19-year-old girl, a voracious reader, and a blossoming writer. Her favorite TV show is Glee, and she loves all things pink. She… Continue reading ADCY5

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Formiminoglutamic Acidemia Aj’s story

Formiminoglutamic acidemia (FIGLU) is an inherited condition in which the body is unable to break down and process certain building blocks of protein, called amino… Continue reading Formiminoglutamic Acidemia Aj’s story

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Sprengel’s Deformity Our Story

My son was Diagnose with Sprengel’s Deformity. Sprengel’s Deformty complex anomaly that is associated with malposition and dysplasia of the scapula. This condition also involves… Continue reading Sprengel’s Deformity Our Story

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Maria – Rubinstein-Taybi Syndrome

Maria was our first child. When she was born in 2008 we noticed her impressive thick black hair and short fat thumbs and joked they… Continue reading Maria – Rubinstein-Taybi Syndrome

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