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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1 heure à la fois

À l’occasion de la Journée des Maladies Rares, je souhaite partager avec vous mon parcours avec le Syndrome de Schmidt. Depuis septembre 2021, je vis… Continue reading 1 heure à la fois

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Katie’s Story

My name is Katie and I was diagnosed with CMTC when I was 5 months old. I am now 30 years old and have lived… Continue reading Katie’s Story

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Annarita e la sua passione per la danza oltre la disabilità

Mi chiamo Annarita ho 27 anni e sono residente a Pagani, un paese in provincia di Salerno. Il destino ha voluto che proprio il giorno… Continue reading Annarita e la sua passione per la danza oltre la disabilità

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Melodies of Resilience: Chapman’s Undiagnosis Disease and Musical Triumph

Chapman, an extraordinary 12-year-old blind pianist, has embarked on an incredible journey since his birth. Born in Hong Kong and currently residing in London, Chapman… Continue reading Melodies of Resilience: Chapman’s Undiagnosis Disease and Musical Triumph

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Brittle but not broken

At three and a half months old, my first fracture appeared. Within a year, I had fractured three more bones. The doctor after having a… Continue reading Brittle but not broken

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Josiah’s Journey through FCAS

Josiah is 23 months old and been having symptoms since birth! Starting with 3 infections at 10 days old, which lead to a spinal tap… Continue reading Josiah’s Journey through FCAS

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My Mast Cell Disease Story

In 2018 I was diagnosed with CIRS: Chronic inflammatory response syndrome, Adrenal Insufficiency, and was also believed to be Mast Cell Disease. I had a… Continue reading My Mast Cell Disease Story

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Leo’s story

Our little Leo was born at 37 weeks after an emergency scan He was released from the hospital two days after birth with no health… Continue reading Leo’s story

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Oakley’s Journey

Oakley was diagnosed with Nicolaides-Baraitser Syndrome in October 2019. When I was pregnant with Oakley, we knew we wanted to choose a good, strong name… Continue reading Oakley’s Journey

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A little insight to my daily life!

My name is Amber and I live in Queensland. I was born with Netherton Syndrome which is a form of Ichthyosis. Ichthyosis is an extremely… Continue reading A little insight to my daily life!

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Vivir en un mundo de 5 dedos

Hola soy Ana Victoria una niña de 8 años que a vivido en un mundo de personas con 5 dedos en cada mano, siempre busco… Continue reading Vivir en un mundo de 5 dedos

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Lijep pozdrav. Moje ime je Senaida, a moj sin se zove Dželal, koji boluje od rijetkog oboljenja, cistične fibroze. Živimo u Srebreniku mali gradić u… Continue reading Nevidljiva

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Je transcende mon handicap

Je m’appelle Julien, j’ai 34 ans et je suis atteint d’une Myopathie de Duchenne. Il s’agit d’une maladie génétique rare qui provoque une dégénérescence musculaire… Continue reading Je transcende mon handicap

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Синдром на Гителман

Здравейте казвам се Камелия, медицинска сестра съм от България.Синът ми се казва Максим и страда от рядко генетично заболяване Синдром на Гителман.Още от много малък… Continue reading Синдром на Гителман

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Short leg but hopeful eyes

Sofia is 1 year and 9 months old. She has congenital defect. Her left leg is shorter than right leg by 9,5 cm. And until… Continue reading Short leg but hopeful eyes

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Marc, our son, is a wonderful 11-year-old enjoying life in the green, residential town of Sant Cugat (Barcelona, Spain). Not only does he fill our… Continue reading MARC, A HAPPY FACE DESPITE HIS RPS6KA3 GENE MUTATION

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Ліза із Маріуполя .

Доброго дня . Чудова , життєрадісна Ліза , із міста Марії, із Маріуполя . Нам пощастило вибратися із окупації , та втекти від війни .… Continue reading Ліза із Маріуполя .

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Sentirsi diversi senza esserlo

Sono Valentina, ho 23 anni, appena arrivata in Italia a 7 anni mi hanno diagnosticato a Udine hypoglycemia una malattia rara che pochissimi conoscono. La… Continue reading Sentirsi diversi senza esserlo

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Living with CDH

I was 27 weeks pregnant when my MFM confirmed our son would be born with congenital diaphragmatic hernia. He had right sided CDH, with liver… Continue reading Living with CDH

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Not Too Rare To Care

Hi, my name is Jayme and I am 26 years old. When I was born in 1996, my Mom along with Doctors knew there was… Continue reading Not Too Rare To Care

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My Story My Journey (قصتي رحلتي)

Hello 👋 My name is Omaima but you can call me om , I’m from Kuwait city 🥰🇰🇼 Have arteriovenous malformation (avm ) left leg… Continue reading My Story My Journey (قصتي رحلتي)

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