Why is a rare disease national plan or strategy needed in your country?

Six reasons to adopt a national plan for rare diseases in your country

In previous decades, rare diseases were nearly invisible in national healthcare systems. Due to a lack of knowledge on these very rare and complex diseases, patients, families and carers were in the dark and faced extreme difficulties in accessing a diagnosis, appropriate care and treatments.

EURORDIS, National Alliances and the rare disease patient community have advocated over the years for rare diseases to be recognised as a public health priority at both the European level (due to the high added value of EU cooperation) and at the national level.

The EU Regulation on Orphan Medicinal Products (2000) was the first EU piece of legislation recognising the unmet therapeutic needs of rare disease patients and their right to same quality of treatment as other patients.

Laying the foundations for national plans

The Communication from the European Commission on rare diseases (2008) and the Recommendation from the Council of the European Union (2009) constitute two key milestones in establishing a comprehensive strategy to support EU Member States on issues including diagnosis, treatment and care for rare disease patients throughout Europe, integrating EU regulations and recommendations relevant to rare diseases.

Most importantly, the Council Recommendation called on EU Member States to adopt a national plan or strategy for rare diseases.

The ultimate goal of a national rare disease plan/strategy is to guarantee rare disease patients’ access to timely and adequate medical and social care

Six reasons to adopt a national plan for rare diseases in your country:

  1. Recognise and address the specificities of rare diseases in a comprehensive manner by setting up a political and legal framework, involving all stakeholders, and coordinating all relevant actions at the national and regional level in the following areas:
    • Access to care, notably structuring national healthcare provisions to facilitate access to experts for adequate diagnosis, therapies and care and define healthcare pathways for people living with a rare disease;
    • Access to adapted social services with the implementation of adequate connections between relevant and existing healthcare services and social services;
    • Stimulate and support innovative research at national level;
    • Identification, development and support of rare disease patient registries;
    • Participation in European and international research;
    • Participation in European innovative policies on rare diseases.
  2. Map out medical expertise on rare diseases across the country. Enable the adoption of an official process to accreditate Centres of Expertise, in charge of providing adequate diagnosis and care through multidisciplinary teams of experts as well as doing clinical research; and enable the participation of Centres of Expertise in the current European Reference Networks on rare diseases.
  3. Identify and establish social services and programmes relevant to rare diseases (resource centres, disability programmes, specialised trainings for professionals involved in diagnosing and management of rare diseases), and bridge the gaps between different services through case management.
  4. Better integrate the European legislations (e.g. orphan drugs, paediatric drugs, advanced therapies, clinical trials, cross-border healthcare, European Pillar of Social Rights) and European Policy Recommendations into the national healthcare and social systems, including those adopted by the EU Committee of Experts on Rare Diseases/ European Commission Expert Group on Rare Diseases.
  5. Recognise the added value of rare disease patients’ organisations and National Alliances as key partners, bringing in their expertise on dealing with the rare disease on a daily basis, and involve them in decision making committees and programmes dedicated to rare diseases in the fields of research, healthcare and social care.
  6. Balance budget and ensure a financial sustainability of the plan by defining a series of specifically funded measures and actions for improving medical and social care for people living with a rare disease.

Page created: 12/12/2018
Page last updated: 13/03/2019
La voce dei malati rari in EuropaEURORDIS Rare Diseases International, la voce internazionale dei malati rariRare Disease International RareConnect è un'iniziativa di EURORDIS che mette in contatto malati, famiglie ed esperti per condividere esperienze in un forum multilingua e moderato RareConnect Il Programma Rare Barometer è un’iniziativa di EURORDIS volta a condurre indagini con l’obiettivo di trasformare le esperienze delle persone affette da malattie rare in cifre e fatti che possono essere condivisi con i decisori politici.Rare Barometer La Giornata delle Malattie Rare, una campagna di sensibilizzazione internazionale che si svolge l'ultimo giorno di febbraio di ogni anno.Rare Disease Day La Conferenza Europea biennale sulle Malattie Rare è il più grande incontro di soggetti interessati al tema delle Malattie Rare in Europa. L'ECRD è un'iniziativa di EURORDISEuropean Conference on Rare Diseases