People affected by RD

Associationism in Rare Diseases

The associationist movement in rare diseases is extremely important and has indeed been a driving force behind the changes that have taken place in this field in the last decade. At the present time there are associations of people affected by RD and their families for a wide range of pathologies, mainly operating in a group sense in Federations of associations, the most prominent ones being the Federación Española de Enfermedades Raras and EURORDIS, in this country and on a European scale, respectively.

CIBERER cooperates with these two main agents representing those affected in Spain and in Europe:

  • The Federación Española de Enfermedades Raras (FEDER), made up of over 200 associations, carries out its everyday work for the people who suffer from rare diseases, acting as the spokesman for families, representing them and defending their rights.
  • EURORDIS is a non-governmental alliance run by organisations of patients and individuals active in the field of rare diseases in Europe. It represents over 600 organisations of patients with rare diseases in over 50 countries, covering over 4000 diseases.

Patients’ Associations are active liaisons, aware of the situation undergone by those affected. They work in the front line to support the patients and speak out for them, and are therefore vital for the social feedback work done by CIBERER.

Donations and micro-sponsorship

Over the last few years there has been an explosion of information on the existence of rare diseases and the difficulties involved in access to diagnosis and treatment, amongst others, undergone by patients and their families. Luckily, although there is still a long way to go, there is today a social, scientific and political awareness of the need for, and importance of, research into RD and of the need to support the persons affected by these pathologies in their claims.

By making known their real situation, associations of patients with RD have managed to make society aware and get people involved in their cause. Part of this social involvement has materialised in economic donations that associations have channelled through the CIBERER to turn these into fuel for research. Cooperation work is thus taking place in research into: ELA, vascular and lymphatic malformations, Lowe syndrome, CDG syndrome and neurodegenerative diseases with brain iron accumulation.

There are also several CIBERER research projects that have been financed or co-financed with initiatives that those affected by RD have led or co-led jointly with CIBERER researchers. Projects on Fragile X Syndromes, Opitz C, etc. have been carried out, amongst others, through the Plataforma Precipita got under way by the FECYT, for example.

If you have any initiative for collecting funds or any donation you would like to make to sponsor research into rare diseases, please contact us at: consultas@ciberer.es.

Service for Outreach to Affected People 

In order to give better care to those affected, in 2011 the CIBERER set up the Service for Outreach to Affected People, through which the following social activities are carried out:

  • Handling Electronic Enquiries of people affected by RD: a service consisting in passing on enquiries to the most suitable researchers and doctors in each case. The enquiries are dealt with by CIBERER managers and the staff of Orphanet-España, based on CIBERER’s own information and that of Orphanet (European database, of which CIBERER is the national coordinator). To give this service the CIBERER cooperates with FEDER and its Foundation, with which it has a Cooperation Agreement, through the Federation’s Information and Guidance Service. Contact: consultas@ciberer.es.
  • Other measures taken by the Service for Outreach to Affected People:
    • Annual holding of a Conference for the "World RD Day ", under the motto "Research means Progress ", as well as organisation and participation in other events connected with Patients’ Associations.
    • Writing the Social newsletter, a two-monthly publication, consisting of an electronic publication with which information on the CIBERER and research into rare diseases of interest is published for those affected and the associations that represent them.
    • Signing Cooperation Agreements with associations of affected persons.