Like most people, when I feel ill, I trust that the doctors will find out what is wrong with me and prescribe me the appropriate treatment. But what if you are ill and the doctors cannot quite identify what is wrong with you and how to treat you. How would you feel if, in addition to suffering from your illness, you had to face uncertainty about what you are suffering from, who can help you, what the best treatment is, whether or not there is a cure?
If you are one of the 30 to 40 million citizens in the European Union suffering from one of these rare conditions that affect no more than five in 10,000 people, this is probably the story of your life: years in 'isolation', waiting for the disease to be diagnosed, waiting for treatment. This is what I have heard many times from people with rare diseases, their families, and the organisations who represent them: a life of struggle and uncertainty.
Indeed, the specialised doctor who can diagnose and treat such a rare disease may live in another region or across the border in another country. Poor and fragmented knowledge of rare diseases often slows down a proper diagnosis, delaying medical treatment.
This is why the EU dimension and the cooperation between member states can make a difference. The European commission can help in pooling together knowledge and expertise, in funding research on rare diseases and also in authorising the best possible medicines for these diseases.
'Alone we are rare, together we are strong': the motto, used by groups of rare disease patients, also reflects the added value of our work in the struggle against rare diseases. In 2008, the commission adopted a communication on rare diseases, followed in 2009 by a council recommendation calling on member states to adopt national plans for rare diseases by 2013 and stressing the need to raise the visibility of rare diseases.
We have worked closely with member states and stakeholders through the EU expert group on rare diseases to help member states shape their national rare disease plans and provide high quality care to all patients. To date, 16 member states have adopted such national plans and several others are at an advanced stage of preparation.
To enhance the visibility of rare diseases, and help develop an inventory of rare diseases, the commission launched in 2010 a joint action with member states to support and enlarge the Orphanet database. Today, Orphanet describes 5868 rare diseases, for the benefit of health professionals and patients, and has grown into the number one worldwide online source of information on rare diseases.
To further help member states in ensuring patients' access to high quality healthcare, the commission has been co-funding, since 2004, pilot European reference networks on rare diseases. In the next few months, the commission will define the rules for establishing such European reference networks under the cross-border healthcare directive. The networks will connect highly specialised centres to enable the sharing of rare medical knowledge and to allow patients with rare diseases to get the most appropriate treatment for their disease, anywhere across the EU.
Appropriate medicines for rare diseases, however, remain scarce as there is little incentive for the pharmaceutical industry to invest R&D resources into medicinal products that will be used by so few patients.
This is why EU pharmaceutical legislation has provided a boost to R&D and widened access to appropriate treatments, thanks to incentives, such as fee waivers and a period of market exclusivity following authorisation of a medicine. Over 12 years, more than 1000 designations – early-stage authorisations – of orphan medicinal products have been granted by the commission. Of these, 85 products have, to date, received a marketing authorisation as orphan medicinal products.
Alongside the regulation's incentives, the pharmaceutical industry and research centres have also benefited from EU funding. Projects on rare diseases have been supported for more than two decades. Finally, the commission has also been actively involved in setting up the international rare diseases research consortium to foster international cooperation in this field. The consortium has committed to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases, by 2020.
Though the process is long and complex, the European commission is committed to fostering cooperation between all stakeholders so that people with rare diseases can get answers to their questions and the right treatment that enables them to live life to the full.