EU raises the voice of 12,000 patients at the European Rare Diseases Day 2009

To mark the European Rare Disease Day 2009, Commissioner for Health, Androulla Vassiliou hosted, on March 3rd 2009, the launch of an important and remarkable book, “The Voice of 12,000 Patients”. This book provides a unique insight into patients' perspectives in rare disease diagnosis, treatment, and care.

Rare diseases are part of the "Europe for patients" campaign which was launched in September 2008. In November, the European Commission put out a strategy in order to improve the diagnosis and treatment for rare diseases patients. It sets out an overall Community strategy to support Member States in diagnosing, treating and caring for the 36 million EU citizens with rare diseases.

As one of the outcomes of this strategy the book “The Voice of 12,000 Patients”, produced by the European Organisation for Rare Diseases (EURORDIS) and co-funded by the European Commission, concludes that action is needed to improve and accelerate the time it takes for the diagnosis of rare diseases. It also illustrates the expectations and experiences of rare disease patients in access to care with 26% of patients reporting difficulty in access to services. The Commission supports several projects in rare diseases under the Public Health Programme and research programmes.

The European Commissioner for Health, Androulla Vassiliou, highlighted thet this book “is an important step forward in our effort to raise awareness on rare diseases under the 'Europe for patients' umbrella campaign. We need to listen to the voices of patients across Europe in order to develop policies that are patient-centred and where sharing expertise and knowledge across Europe will bring real benefits to those in need”.

“The Voice of 12,000 Patients”. Main Conclusions

  • A general lack of awareness and a specific lack of knowledge of rare diseases are leading to delayed diagnosis, and often misdiagnosis.
  • More than a quarter of rare diseases patients experience difficulties in accessing services, often resulting from the lack of referral.
  • Patients recognised the benefits of establishing Centres of Expertise, and such centres would be an appropriate restructuring of the classic healthcare systems to allow them to better treat patients with rare diseases.
  • When considering the care of a rare disease patient, there is a need for integration of the healthcare and social services to provide complete support.

European Reference Networks for Rare Diseases

European reference networks (ERNs) for rare diseases play an important role in tackling rare diseases and other conditions requiring specialised care. ERNs also serve as research and knowledge reference points, updating and contributing to the latest scientific findings, for the treatment of patients from other Member States, and ensuring the availability of subsequent treatment facilities where necessary. 

The following projects have already been selected for funding as reference networks pilot projects:

  • European network of paediatric Hodgkin’s lymphoma
  • European Network of Reference for Rare Paediatric Neurological Diseases (NEUROPED)
  • European Centres of Reference Network for Cystic Fibrosis (ECORN-CF).
  • European Network of Centres of Reference for Dysmorphology.
  • Patient Associations and Alpha1 International Registry (PAAIR).
  • Establishment of a European Network of Rare Bleeding Disorders

EU Strategy on rare diseases

Rare diseases are conditions that affect fewer than 5 in every 10,000 people. There are between 5,000 and 8,000 such conditions.  These conditions are predominantly genetic in origin, but also include rare cancers, auto-immune diseases and congenital malformations. The limited number of patients affected and the fragmentation of knowledge about them across the European Union makes rare diseases a prime example of where working at European level is necessary and beneficial.

The Community strategy for action in rare diseases calls for action in three main areas:

  1. Improving recognition and visibility of rare diseases;
  2. Supporting national plans for rare diseases in the Member States; and,
  3. Strengthening cooperation and coordination for rare diseases at European level.