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

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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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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My Tribe

With her first scary seizure at 3 days old, and some pretty routine testing like MRIs, CT scans, EEGs, some genetic testing (Rett, Fragile X),… Continue reading My Tribe

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Patient becomes Scientist and develops nonprofit

I was diagnosed when I was 17 years old with tenosynovial giant cell tumor (TGCT), a rare locally aggressive tumor that occupies the synovium, tendon… Continue reading Patient becomes Scientist and develops nonprofit

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The ability to reinvent yourself is the greatest skill of a human being!

I was born with XLH – X-Linked Hypophosphatemia, I’m 36 years old and I’ve had 12 leg surgeries and relearned to walk 18 times. I… Continue reading The ability to reinvent yourself is the greatest skill of a human being!

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Stronger Together

Jana is 36 years old and lives in Germany. It took her a long time to understand what her disease is, what it means and… Continue reading Stronger Together

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Life is an adventure

Life is a beautiful gift and it’s our responsibility to live it to the full, that is what I plan on doing! – Kerry My… Continue reading Life is an adventure

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Mastocytosis and Me

How would your life change if you developed an allergy to water? What if you broke out in hives each time you exercised, showered, or… Continue reading Mastocytosis and Me

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legg calve perthes disease

Six years old Riley full of life and a strong love for sports. Running, surfing and skateboarding. Little Riley’s whole world got flipped upside down… Continue reading legg calve perthes disease

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Activista por la EM y enfermedades poco frecuentes

A partir del diagnóstico de esclerosis múltiple primaria progresiva en el año 2010, la vida no ha sido fácil pero puedo dedicarme al activismo social… Continue reading Activista por la EM y enfermedades poco frecuentes

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Keep Going

I have had hereditary Ataxia (SCA 6 ) since 1986. The progression of the Ataxia affected every aspect of my personal and professional life as… Continue reading Keep Going

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