Heroes – Rare Disease Day 2022

Meet our heroes

These people are living with a rare disease and educating the wider public.

Reza’s Story

Cystinosis

Thirteen-year-old Reza lives in Iran with his family, and he is also living with a rare disease called Cystinosis. Within the past century, Cystinosis has… Continue reading Reza’s Story

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Nitzia’s Story

Turner syndrome

As a child, Nitzia attended medical appointments for nine years across four different hospitals before she was finally diagnosed with Turner syndrome.

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Jelena’s Story

Cystic Fibrosis

Jelena finds it difficult to breathe as her lungs do not function properly. Unlike someone who has a more common condition, such as asthma, Jelena… Continue reading Jelena’s Story

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Frequent visits to doctors and hospitals form many of Shambhvai’s earliest memories. To her frustration, she kept being treated for individual symptoms as opposed to… Continue reading Shambhavi’s Story

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Zixuan’s Story

Mucopolysaccharidosis type 1

Zixuan was two years old when her family started the long process of trying to find a medical diagnosis for her increasing array of symptoms.… Continue reading Zixuan’s Story

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Tshepiso Gloria’s Story

Von Willebrand’s Disease

For over twenty years Tshepiso Gloria coped with a bleeding disorder before eventually being diagnosed. She went from doctor to doctor, hospital to hospital and… Continue reading Tshepiso Gloria’s Story

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Wafic’s Story

Duchenne Muscular Dystrophy

Soon after Wafic from Lebanon was born, his parents realised something did not seem quite right. After having spent a worrying few months in hospital… Continue reading Wafic’s Story

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Syafiq’s Story

Hypohidrotic Ectodermal Dysplasia (HED)

I am Syafiq from Malaysia and I am living with Hypohidrotic Ectodermal Dysplasia (HED). I love hiking in the jungle and jogging (which previously I… Continue reading Syafiq’s Story

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Regina’s Story

Leiomyosarcoma

Sou mãe de 3 meninos, 2 deles com uma doença rara chamada MUCOPOLISSACARIDOSE Tipo VI. Meu mais velho, Nilton faleceu aos 6 anos devido à… Continue reading Regina’s Story

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Vasco’s Story

Gaucher Disease

6-year-old Vasco from Peru loves to play, paint, dance and read. But most of all, he loves spending time with his family. It took three… Continue reading Vasco’s Story

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Nada’s Story

Epidermolysis Bullosa

22-year-old Nada, whose life has been impacted by a rare disease that makes it difficult for her to move, read and swallow, has got a… Continue reading Nada’s Story

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Taka’s Story

Retinitis Pigmentosa

Hi! My name is Taka, and I’m 36 years old from Japan. I was diagnosed with Retinitis Pigmentosa, a rare eye disease, when I was… Continue reading Taka’s Story

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Angelina’s story

Calcium/calmodulin dependent serine protein kinase (CASK)

My 5-year-old daughter, Angelina, is living with CASK-gene related disorders – more precisely, she is living with an X-linked intellectual disability, microcephaly with pontine and… Continue reading Angelina’s story

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Harvey’s story

Spinal Muscular Atrophy

My son Harvey has a rare condition; SMA, in full Spinal muscular atrophy type 1, which is the more severe type of the disease. Harvey’s… Continue reading Harvey’s story

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JK’s story

Osteogenesis Imperfecta

My name is Jon-Kristian, but you can call me JK! I am 12-years-old and I live in Norway with my family. I am living with… Continue reading JK’s story

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Tristan’s story

Sickle cell anemia

Hello everyone! My name is Tristan from the United States and I am living with Sickle cell anemia. My passion in life is fashion, design,… Continue reading Tristan’s story

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