Today is Rare Disease Day – the international awareness-raising campaign for rare diseases, launched by EURORDIS and its Council of National Alliances. Since Rare Disease Day started in 2008, thousands of events have taken place throughout the world, reaching millions of people. The campaign started as a European event and has progressively become a world phenomenon, with participation in 94 countries all over the world in 2017.

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The theme for 2018 is research. Rare Disease Day 2018 is an opportunity for individuals and organisations to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research. Rare Disease Day 2018 is also an opportunity to recognise the crucial role that patients play in research.

Patient involvement in research has resulted in more research, which is better targeted to the needs of patients with rare diseases. Patients no longer solely reap the benefits of research; they are empowered and valued partners from the beginning to the end of the research process.

Patients advocate for research on a specific disease or across diseases. They know where research is needed and work to influence research bodies and companies to prioritise these areas in their research.

Patients fund research. Individuals or patient organisations such as the AFM-Téléthon often raise money for research projects, on their own or in partnership with private funding initiatives.

Patients partner in research projects and are included in the governance of research.

Patients participate in clinical trials and other research, as well as in the design of clinical trials and other research. They therefore help to ensure that the development of medicines and other interventions takes into account their real needs, so that the patient perspective is never overlooked.

What is a rare disease?

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.”

“A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.”

One rare disease may affect only a handful of patients in the European Union (EU), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. 50% of rare diseases affect children.

Characteristics of rare diseases

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient living with the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis and delayed treatment. The fact that there are often no existing effective cures (or indeed management strategies) adds to the high level of pain and challenges endured by patients and their families.

The reality of living with a rare disease

The millions of people affected by rare diseases around the world face huge challenges every day. Imagine going to multiple doctors who cannot diagnose your condition. Imagine that there are no existing treatment for your disease. Image that the only available treatments for your disease are too expensive. These are the harsh realities for millions of people around the world.

Imagine the social system around you – school, work, social services – not being adapted to your needs. Imagine the financial burden and stress caused by having to travel hours or days to get to the only specialist that can help you or your child.

Imagine there are only a handful of people living with your disease around the world and little or no research on your disease. Imagine the isolation you would feel. These are just some of the challenges that people living with a rare disease, their families and carers face.

 

How can things change?

Although people living with rare diseases and their families face many challenges, enormous progress is being made every day. The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of more appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research, as well as the sharing of scientific knowledge about all rare diseases – not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

However, the road ahead is long with much progress still to be made.

 

 

The #ShowYourRare campaign

The #ShowYourRare campaign is the inspiration for the Rare Disease Day 2018 poster and video (look above!) This year’s video features patients and family members, researchers and doctors who show their rare. The video shows the wide range of people involved in the rare disease cause and together, with your support they can be a strong voice for greater progress in research of rare diseases.

Read stories of the stars of the video – 5-year-old Enzo, who is living with congenital myasthenic syndrome, Yara, a rare disease researcher, Annie, who is living with leber hereditary optic neuropathy, Alexandre, who is living with Fibrodysplasia ossificans progressiva, and his father Antoine.

Share this video on social media and with your friends and family to help show your solidarity with those living with rare diseases! Rare needs research. Rare needs you.

So, show your rare. Show you care.”

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Source: Rare Disease Day

 

 

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Written by simonrstones

Simon Stones BSc (Hons) is an award-winning patient leader, advocate and researcher from Manchester in the UK, who was the winner of the international WEGO Health Award for Patient Healthcare Collaborator in 2017. He is a passionate advocate and ambassador for people living with invisible illnesses, inspired and empowered by his own journey with arthritis, fibromyalgia, and inflammatory bowel disease since childhood. He is currently an Associate Fellow of the Royal Commonwealth Society, and a trustee of Fibromyalgia Action UK and RAiISE.

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