Terkel Andersen, President of EURORDIS was a keynote speaker at D’Genes Association’s annual meeting held with the collaboration of Federación Española de Enfermedades Raras (FEDER), last October 26-28 in Totana, Spain. At the opening ceremony on Friday 26th the Spanish minister of Health Ana Mato Adrover announced that the Government has declared 2013 to become Rare Disease Year in Spain. FEDER will play a decisive role in the planning of the activities. The President of Spain, Mariano Rajoy has assured his presence at key events.
Further Ana Mato announced that the Spanish Government will take action to declare a European year for Rare Diseases.
Terkel Andersen shared his thoughts about the challenges faced by the rare disease community in Europe with those present at the meeting.
I am deeply honoured to have been invited to speak to you at the opening of this meeting and share with you some of my thoughts on the challenges and opportunities that we face within the rare disease community at this crucial moment of European history.
I am a person with severe haemophilia. A disease which has a grim natural history of devastating and painful bleedings leading to childhood disability and eary death. But also a disease which illustrates the inventiveness and resilience of mankind: 55 years ago when I was born the average expected survival of child with severe haemophilia would be less than 16 years. Much has changed this in the years which have gone by, even though progress has been a rough ride with serious set backs for the haemophilia community as some of you will know. But the prospects for new generations of people living with haemophilia are very bright and hold the promise of full lives with very few restrictions. Haemophilia is probably one of the most well known rare conditions. But it should also be seen as a beacon for how high we should set standards when we try to steer towards a brighter future for all people living with rare diseases.
In Spain it is estimated that 3 million people are affected by one of the more than 6000 rare diseases. Most are chronic and many quite disabling. Rare diseases are very often extremely complex involving, where available, a network of specialists. Coordinating such a network is a time consuming task. Some times this alone would be comparable to a full time position. This adds on to the challenges that people face in their daily lives when trying to cope with the burden of disease. Socially, emotionally, economically. Dealing with hundreds of uncertainties, often with the impression that you are the first to embark on a journey through unchartered and bleak territory.
On this background it is obvious that we are dealing with a public health and social issue of enormous dimensions. Until recently rare diseases were the “orphans” of European health and social systems, neglected or overlooked as the needs associated with rare diseases usually do not fit in with the services offered for more common conditions.
EURORDIS, the European organisation for rare diseases, was created 15 years ago. Our mission is and has always been to create hope for families who face the incomprehensive challenge of dealing with a rare disease among their loved ones. One thing is to find yourself in profound chaos with very little help, Another to face the despair which will surface once you realize that the prospects of finding a treatment or a cure are as unlikely as the disease is rare.
Therefore rare diseases constitute an ethical challenge to our societies. Our values in Europe are fundamentally linked to the concept of assisting those who are most in need, to soothe when life becomes almost unbearable, to inspire and create new visions and opportunities when solutions at hand prove to be insufficient.
Over the last few decades rare diseases have emerged from the darkness. Thanks to medical progress and pioneer efforts of dedicated people from many fields. Thanks to technical progress in genetics and the marvellous access to information sharing through the internet. But first and foremost due to the commitment and self sacrifice of thousands of volunteers among those directly confronted with the issue of rare diseases as a relative or an affected person themselves.
In a time of profound economic crises it is important to keep in mind those key competences that we share as Europeans. Among which I count our Promethean defiance of fate, our strive for excellence and freedom of thought and expression which endow us with creativity, resilience and ability to reinvent ourselves individually and collectively.…………
Rare disease patients have shown the way. And most impressively so here in Spain: In less than 10 years you succeeded in forming a strong community of patients across very heterogeneous diseases in a quest to define your needs and define new solutions. Your approach has been rational and admirable at the same time: You have not just made a plea for compassion. Instead you have analysed the issue, performed surveys, invited experts to take part in a long series of high level conferences, inspired a thorough mapping of diseases by prevalence and distribution, listed resources and shortfalls in public service provision. FEDER has even provided services to respond to immediate needs. I know that some of your inspiration has come from similar projects from abroad, but you have excelled by the systematic and comprehensive way you have performed. As a result you and public authorities now are ready to capitalise on a goldmine of data and insights provided mainly by you!
EURORDIS is proud to have had the opportunity to demonstrate what added value comes out of transnational collaboration: If people start wondering these days whether the EU does good for its citizens or things were better before you should let them know about the situation of people with rare diseases. Many of you have participated in the data gathering leading to the publication of Rare Diseases12000 voices from across Europe. This is the first systematic approach to obtain data enabling us to understand differences in life conditions among people living with rare diseases in different member states. This study provided documentation that people not only face very different opportunities in different Member States but that this is also the case inside individual Member States. This study inspired us to insist on European Action to help Member States organize efforts around care, support and research in a smarter and coordinated way. We were happy when three years ago The European Council of Ministers adopted the Recommendations on Rare Diseases which call on member states to develop a national plan for action on Rare Diseases and to include transnational collaboration in these. This work should be finalized by the end of next year, and I am happy to see that … countries including Spain seem to reach this target.
An important feature is the definition of indicators for the implementation of measures which will ensure equal access to diagnosis, treatment and follow up. Making a plan doesn’t make a difference by itself! Having a committee monitoring the development is great but making it happen is a different story! It is our firm conviction that you need to have representatives of patient groups on the committees to ensure vigilance on progression and to put a stop to the usual differences between other interested parties and keep focus on what serves patients and thus what serves society. On a European level a special standing committee, EUCERD has been established which will follow and debate issues of relevance to rare diseases. EURORDIS has eight seats on this committee.
Investing in a better set up for the management of rare diseases makes more sense than ever: Even though we are now in the midst of a frightening crisis we must keep in mind that if we do not make unforgiveable mistakes things will change within a few years: One of the drivers of change is scientific progress and in few other domains do we see this happening at the pace of biotechnologies and human medicines. Our involvement in advancing development of orphan drugs has paid off and we now see a pipeline of new OD’s which exceed … just in Europe. Therapies will be developed for diseases which years ago were considered to remain untreatable. This is mainly but not only due to researchers: These years we are designing much more intelligent ways to promote research and combine resources around the globe. This has been initiated with the transatlantic collaboration IRDiRC which will pool resources from research institutes and other stakeholders with the ambitious goal to develop therapies for 200 diseases by 2020. EURORDIS and NORD (National Organization for Rare Disorders – USA) are active partners of IRDiRC.
It is obvious that the economic crisis will easily lead to slower access to new therapies: Blocking the introduction of new therapies is often politically easier than reassessing the true efficacy of treatments which have been around for a while. This is why EURORDIS is in favour of procedures which facilitate Health Technology Assessment to establish the efficacy of new therapies.
But HTA should not serve as an excuse to slow the introduction of new therapies. We have recently reached agreement inside the EUCERD that a mechanism must be introduced to ensure post marketing data collection to ensure that treatments are made available to patients without delay but ensuring a proper evaluation.
Scientific progress and development of therapies are on their way for many rare diseases to the benefit of patients and to the benefit of society: What may lead to expenditure in the health sector will undoubtedly lead to significant benefit in the social sector.
As we face times of austerity it is important not to give way to cynicism: The rare disease community belongs to some of the most disadvantaged and challenged groups in society struggling with incessant worries and to make a family work also for the sake of those siblings which are not ill.
Times of austerity should be used to develop smarter and more well adapted solutions which can save the money and energy that we waste every day because of old fashioned ways of thinking. Planning the future together with patients is one of the best ways to obtain this. Doing so we will not only be innovative in our way to organize healthcare but also empower patients and their families to play an active role in order to create together more efficient solutions and thus to shape their own lives.
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