Meet our heroes

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

Reza’s Story


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

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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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Shambhavi’s Story

Alagille syndrome

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


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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Siempre había estado ahí

Lo que no había cambiado en ella era su esperanza; aquella que hoy hacía su aparición y la que se esfumaba en cuanto decían su… Continue reading Siempre había estado ahí

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Sia Strong

In 2019 our daughter was diagnosed with epilepsy. We noticed a decline in abilities and trouble with walking so we had further testing done. An… Continue reading Sia Strong

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Shiloh was born on June 18,2019. He has been diagnosed with around 40 conditions since then and is currently participating in the Undiagnosed Diseases Network… Continue reading Shiloh

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My life with Friedreich’s Ataxia

My name is Natache Iamaya. I’m from Rio de Janeiro. I have Friedreich’s ataxia, a rare genetic disorder that damages the nervous system and impairs… Continue reading My life with Friedreich’s Ataxia

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Alice from Brazil is living with Infantile Neuroaxonal Dystrophy (INAD)

My name is Isabela, I am Alice’s mother who is 3 years old. We are from Brazil! Alice had her normal development until she was… Continue reading Alice from Brazil is living with Infantile Neuroaxonal Dystrophy (INAD)

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Brooke Spiegler Syndrome is a BEAST that needs taming fast.

Hi! My name is Kay Pierce and I have Brooke Spiegler Syndrome, BSS. In 1997, I was 17 years old when I first noticed my… Continue reading Brooke Spiegler Syndrome is a BEAST that needs taming fast.

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I won’t be beaten!

Like any rare condition, living with nethertons syndrome is a daily battle and the last three months has reminded me that I’m not in control… Continue reading I won’t be beaten!

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A heroine from uae

My name is Ehsan I was born in February 2014 When I was born, I was suffering from Cleft palate and I had four surgeries,… Continue reading A heroine from uae

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Fanconi Anaemia

Rowen was born with a condition called TOF/OA in basic terms her oesophagus was a dead end at the top and her stomach was connected… Continue reading Fanconi Anaemia

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