people with rare diseases
of the population
are genetic diseases
Over 6,000 rare diseases are characterised by a wide range of conditions and symptoms that can vary not only between diseases but also among individuals with the same condition.
Seventy-two per cent of rare diseases are genetic, and nearly one in five cancers is classified as rare.
Some common symptoms may overlap with those of rare diseases, which can make diagnosis challenging and delay access to appropriate care. These conditions can impact daily life due to their long-term, evolving nature.
In many cases, there are limited treatment options, highlighting the need for continued research and support for individuals and families affected.
Rare Disease Day raises awareness for the 300 million people worldwide living with a rare disease, along with their families and carers.
The long-term goal of the Rare Disease Day campaign is to ensure equitable access to diagnosis, treatment, healthcare, social support, and opportunities for those affected by rare diseases.
Significant progress continues through joint international advocacy efforts for universal health coverage (UHC), a key part of the United Nations’ Sustainable Development Goals (SDGs). These efforts aim to create equitable health systems that address the needs of people with rare diseases, ensuring no one is left behind.
Rare Disease Day provides an opportunity to advocate for rare diseases as a human rights priority at local, national, and international levels, promoting a more inclusive society.
Since its launch in 2008, with events in just 18 countries, Rare Disease Day has grown into a global movement, now observed in over 100 countries.
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
Read full storyAs a child, Nitzia attended medical appointments for nine years across four different hospitals before she was finally diagnosed with Turner syndrome.
Read full storyJelena 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
Read full storyFrequent 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
Read full storyZixuan 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
Read full storyFor 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
Read full storySoon 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
Read full storyI 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
Read full storySou 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
Read full story6-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
Read full story22-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
Read full storyHi! 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
Read full storyMy 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
Read full storyMy 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
Read full storyMy 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
Read full storyHello 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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