#30millionreasons for European
action on rare diseases

Over 2000 stories from across Europe

Why does Europe need to take
action on rare diseases now?

There are 30 million people living with a rare disease in Europe.

Girls, boys, women and men who have to fight for access to a diagnosis, health care, treatments, awareness, equality.

30 million who each represent a reason for European policy makers to take action for a better tomorrow.

Though great strides have been made, progress remains slow, disjointed and insufficient. Through the Rare 2030 Foresight Study we have a solution.

EURORDIS-Rare Diseases Europe asked European Federations, National Alliances for Rare Diseases and 984 Patient Organisation Members, as well as the wider rare disease community to share their personal reasons for change.

Across Europe, over 2100 people – those living with a rare disease, parents, siblings, friends, advocates, healthcare professionals and researchers – shared their reasons why Europe must act. These are personal experiences, hopes and fears that are moving, motivating, sometimes devastating, impassioned and humbling.

We are proud to share these reasons with you.

Because the disease stops being rare when it occurs in a loved one.

Michal, Slovakia

Because only Europe can make the invisible, visible, and finally serve all of its citizens needs.

Amanda, Belgium

So that my 2 year old son has a secure and carefree future with his rare genetic defect.

Patricia, Germany

Because we, as Europeans, are defined by how we include and support our most vulnerable citizens.

Mike, Ireland

Because my daughter died at the age of 15 after a fight and suffering for 12 years.

Mireille, Luxembourg

Because I just want to live just like other healthy people, even though I have a lot of limitations and there is no cure. Life is not just about surviving, but about loving, living and enjoying it ...

Pavla, Czech Republic

Because I want my daughter, the most smiley and sunny child, who is now 6, to come to me alone and say, "Mum, can I play outside with my friends?". She walks with difficulty, even with help, has difficulty using her hands, and cannot speak but has the most beautiful and expressive eyes that try to say everything!”

Mila, Bulgaria

Because the EU has the science, the healthcare and the industry to help patients suffering from rare diseases. Political will and incentives can turn science into treatments.

Boris, France

Because we need to ignite curiosity and build awareness among scientists. Then inspiration will follow and pave the way to rare disease research and diagnosis.

Gulcin, Spain

Because we are strong, we are many, we are proud.

Marios, Cyprus

Because the health of citizens is and must remain a fundamental priority of the European Union [...], and there's never a better time than RIGHT NOW to take action for our future.

Adrian, Romania

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Rare Diseases in Europe

The European Union considers a disease as rare when it affects less than 1 in 2,000 citizens. Over 6,000 different rare diseases have been identified to date. Rare diseases currently affect 3.5% - 5.9% of the worldwide population, an estimated 30 million people in Europe and 300 million worldwide.

Why do people want to see action on rare diseases where you live?

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Reasons and names have been displayed as submitted between June - December 2021 as part of the #30millionreasons for European Action on Rare Diseases campaign. Photographs are a selection from the EURORDIS Photo Contest and are not linked to the reasons nor the country.

Manifesto

We, the 30 million people living with a rare disease in Europe, are calling for the European Union to take action on rare diseases.

Over 250 experts and thousands of people living with rare diseases and their families have shown through the Rare 2030 Foresight Study that the current strategy is not enough, and that we cannot leave our future to luck or chance.

They recommend Europe’s Action Plan for Rare Diseases: a new policy framework for rare diseases, including rare cancers, that connects European countries across diagnosis, research, data, treatments and care and leaves no one, not even Europe’s rarest citizens, behind.

We need Europe’s Action Plan for Rare Disease to connect experts, knowledge and data to ensure better and longer lives for us and our families.

We need Europe’s Action Plan for Rare Disease to bring a new focus to national plans and strategies on rare diseases, so that scientific, technological and clinical advances reach every person living with a rare disease.

We need Europe’s Action Plan for Rare Disease to create an ecosystem that fosters innovation across every area of our lives.

We need Europe’s Action Plan for Rare Diseases to set measurable goals to reduce inequalities and ensure the highest quality of life regardless of where you are born or live.

If Europe wants to address the unmet needs of the 30 million Europeans living with a rare disease and their families, it needs to take action now.

By 2030, every person living with a rare disease in Europe deserves to:
  • 1. Have a better and longer life
  • 2. Have the same experience, wherever they are
  • 3. Benefit from innovation

Goals

  • Goal 1

    Have better
    and longer lives

  • Goal 2

    Have the same experience,
    wherever you are

  • Goal 3

    Benefit from
    innovation

What is the current situation?

  • 5 years

    average odyssey to diagnosis, and often much longer. This is a period of uncertainty, extensive interactions with healthcare professionals, and isolation.

  • 70%

    Of rare diseases start in childhood

    72%

    Of which are of genetic origin

  • 6%

    of rare disease have treatment. But often, information and specialists are lacking, meaning a new odyssey for further information and treatment begins.

  • Unmet needs

    A high level of

Rocio’s Story

Rocio waited 30 years before she received a diagnosis, despite many efforts by her family to find specialists around the world. Eventually a chance meeting of experts at a conference, who met and discussed her case in comparison to another in the Netherlands, meant they were eventually able to screen her for the genetic mutation and give her a diagnosis.

Not knowing this until this point meant they were unable to know what treatment and care to put in place. There is no treatment specifically for her disease, but there are palliative measures that could make a big difference to her quality of life. Rocio has a very rare disease therefore information is often lacking and they are forced to constantly fight for information.

For Rocio, and people like her, Europe’s Action Plan for Rare Diseases would:

  • Make sure that diagnosis doesn’t just happen by chance, thanks to better databases and technologies
  • Ensure earlier diagnosis, through greater awareness of healthcare professionals, so that families can plan appropriate treatment and care
  • Strengthen infrastructures - by connecting data, experts and knowledge - to better understand her rare disease
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How will this plan help me have a better and longer life?

— Rocio, Spain
Living with PACS1 syndrome

“Only finding out the name of the disease – a diagnosis – when Rocío was already 31 years old, when she was already grown up, brings problems. It brings up things that you might have done differently or better, knowing what we know now.”

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What should be done?

There is a lot that can be done to improve the quality of life of people living with a rare disease, even when there is no treatment available.

Earlier diagnosis offers one of the first keys to an appropriate intervention to manage symptoms or treat the disease before it has an irreversible effect. This opens the door to specialists, and access to clinical and social care that can ensure a better management of the rare disease.

To achieve earlier diagnosis, more harmonised screening services, greater collaboration between experts to collect and share data and information, and improved awareness of healthcare professionals about rare diseases are critical.

When there is a treatment that can make a difference, people living with a rare disease should have prompt access to allow them to live the best quality of life possible.

All people living with a rare disease should also have a care pathway at the time of diagnosis, integrating health and social services.

The rare disease story in Europe so far

  • EU on Paediatric Use of Medicines

    2006

  • rarediseaseday logo

    Global solidarity for rare diseases

    The first Rare Disease Day

    2008

  • European Reference Networks have a foundation

    EU Cross Border Health Care
    Directive

    2011

  • Calling for a review of rare disease strategies

    European Court of Auditors report on EU actions for cross border health care

    2019

  • rare-2030 logo

    Rare 2030 Foresight Study

    The main recommendation called for a renewed European policy framework on rare diseases by 2023, to connect the dots between different areas and different countries in Europe.

    Rare 2030 Foresight Study Recommendations published

    Feb 2021

2000
to 2030
  • 2000

    EU on Orphan Medicinal Products

    Incentivised investment in rare disease research

  • 2007

    EU on Advanced Therapies
    Regulation

  • 2008/9

    European Commission's
    Communication and EU

    Council Recommendation on rare
    diseases

    Rare diseases recognised as a public health priority; Member States recommended to introduce a national plan on rare diseases

  • 2017

    Launch of 24 European Reference Networks

  • Dec 2021

    UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease

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My reason for
Europe to act

Yann Le Cam

Yann Le Cam
Chief Executive Officer,
EURORDIS-Rare Diseases Europe

My daughter’s life expectancy has increased by 15 years over the 30 years she has lived with her rare disease. With her, I have seen and learnt from the obstacles that living with a rare disease throws at every turn; as I have also lived them with the whole European patient community over the last twenty years.

But more than anything, I have witnessed how the tremendous progress that applying the optimal use of existing knowledge has changed my daughter’s trajectory. Newborn screening, access to highly specialised centres of care, innovative treatments, double-lung transplants made possible because of innovative health technologies and surgical techniques. These measures have added crucial time - and quality - to her life.

However such progress remains disjointed, and unfortunately not equally accessible in all European countries.

“I want European action on rare diseases so that all children and adults benefit from the same progress as my daughter.”

Bringing European Member States’ rare disease commitments under a common umbrella, working towards the same measurable goals to address the unmet needs of the 30 million people living with a rare disease in Europe is the answer.

Driving collaboration, pooling knowledge and expertise, optimising data, fostering innovation, integrating care, bringing science and technology to everyone, and ensuring the fulfilment of the human rights of every person living with a rare disease.

The UN has recognised these rights in a newly adopted Resolution on Addressing the Challenges of Persons Living with a Rare Disease. Now, there are 30 million reasons for Europe to act.

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A collective
European initiative

A comprehensive European policy framework for rare diseases was the concluding recommendation of the Rare 2030 Foresight Study. Initiated and funded by European Union institutions, the Rare 2030 Foresight Study gained consensus from extensive stakeholders on recommendations on how to ensure a better future for the 30 million people living with a rare disease in Europe.

Members of the European Parliament and the Rare 2030 Young Citizens are calling for this recommendation to be implemented as a European Action Plan for Rare Diseases.

Letter from EU
policy makers

Dear European Commission, We are honoured to reiterate the call for the European Commission to urgently introduce an Action Plan for Rare Diseases to manage rare diseases in a more efficient and forward thinking way for the ultimate benefit of patients.

We can no longer work slowly in the silos that currently exist – with no link between different legislative areas and Member States actions – if we want to deliver for the 30 million people living with a rare disease in Europe.

The Rare 2030 Foresight Study, initiated by the European Parliament and funded by the European Commission, gave cross-sector consensus from over 250 stakeholders and thousands of patients on what needs to be done to make Europe’s scientific and social potential accessible to people living with a rare disease.

It is now time to insist that the main Rare 2030 recommendation for a new European policy framework for rare diseases is taken into consideration.

On behalf of 43 Members of the European Parliament, led by Frédérique Ries MEP.

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Letter from the Rare 2030 Young Citizens

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Dear Members of the European Parliament, dear European Commissioners, dear present policy makers and thought leaders.

We are the Rare 2030 Young Citizens, representing a new generation of advocates, patients and actors in the rare disease community. We come from diverse backgrounds, different countries and have different experiences of rare diseases – as patients, young parents, doctors, students, and junior policy advisors. Nevertheless we have all come to the same conclusions about what needs to happen for a better tomorrow for the 30 million people living with a rare disease in Europe, where no one is left behind.

While the European Union has fostered tremendous progress in the past decade to improve the life of people living with a rare disease in Europe, it is undeniable that the world we live in today is different than the one we knew back then. We are a generation in a new context, with new challenges but also new opportunities. It has taken a generation to get where we are. Now it’s time to listen to what we have to say about the future for Europe to indeed be a place where no one is left behind. In ten years’ time, we will be living with a rare disease. In ten years, we may also be parents of a child living with a rare disease.

By 2030, we want to live in an inclusive society that recognises all our needs and challenges.

We want to live in a society that acknowledges that our conditions are more than collections of physiological symptoms but rather require a holistic approach to be fully understood and, more importantly, addressed. We want to have access to the right diagnosis without having to go through the all too common diagnostic odyssey and to be given the appropriate treatment wherever we live and whatever our socio-economic status may be. In ten years’ time, we will be doctors, nurses, psychologists.

By 2030, we want to work and collaborate with colleagues in our respective countries and throughout Europe to whom rare diseases are not an abstract notion or mystery but a surmountable challenge.

We want – as doctors, nurses, health and social care providers of any kind – to know that collaboration and help beyond national borders exists to take the best care possible of people living with a rare disease. We hope that we – and the generation of health care providers that will follow ours – will benefit from a solid education on rare diseases and on the means we have at our disposal to appropriately recognize, diagnose and treat them. It is time for us to become the best version of our professions to make sure that our patients can live the healthiest and happiest life they can. In ten years’ time, we will be policy makers.

By 2030, we hope we will not have to advocate anymore for the need to have a European policy framework that encompasses all the important aspects of rare diseases and addresses the needs of the rare disease community as a whole.

We want Europe to be an example of fairness, equity and inclusiveness in all areas having an impact on the lives of people living with a rare disease. We want policy makers to have understood by 2030 that rare diseases are a public health priority that highly benefits from cross-border collaboration, in terms of diagnosis, care and research, to indeed guarantee that we are a society that truly leaves no one behind. In ten years’ time, we will be sitting where you are today and, we hope, as part of a stronger rare disease community all together. In the next ten years we want to be the generation of change. As the leaders of today you can make a meaningful difference, to drive change for our generation, and the generations of rare disease patients, carers, doctors and policy makers to come.

Dear Members of the European Parliament, dear European Commissioners, dear present policy makers and thought leaders, please don’t let the health and well being of 30 million people living with a rare disease in Europe be left to luck or chance. Consider our words in your policies changes today.

What can I do?

We all have a role to play: as a person living with or caring for someone with a rare disease, as their friends and family, as a patient advocate, as a doctor, as a healthcare professional, as a policy maker, as someone working in the rare disease field.

Share this page on your social media with your community or your policy makers.

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Don’t see your reason?

Not everyone agreed for their reason to be published, but added their name in support of the campaign. That’s why, if you wrote one, you might not see it.

Any questions?

With thanks to the National Alliances for Rare Diseases, European Rare Disease Federations, and EURORDIS’ 984 Patient Organisation Members.