Association welcomes establishment of a priority programme for rare diseases

O president of the association RD-Portugal, Paulo Gonçalves, today considered that the creation of the Priority Health Program for Rare Diseases is a long awaited step that will allow the implementation of the action plan 2025-2030.

“In fact, this was a stage we had been looking forward to for some time,” said the responsible, commenting on the announcement made by the Secretary of State for Health, Ana Povo, that rare diseases will constitute a Priority Health Program in the Directorate-General for Health, beginning in January 2027.

Paulo Gonçalves stressed that this announcement leaves RD-Portugal – Union of Rare Diseases Associations of Portugal “very satisfied”, since “they have created the space for the implementation of the Rare Diseases Action 2025-2030 – from the strategy to the person”.

“ We do not yet know the content of the order, but what we have been given to understand, will be ‘resident’ in the DGS, as well as the other national health programs”, he stressed.

The president of RD Portugal also stressed the fact that the program is directed by Maria do Céu Machado, who coordinated the development of the plan and who will define the team for the implementation and monitoring committee.

The association hopes that the program will enable the actions identified as necessary by the people living with rare diseases and their families, with benefits for “their condition, care and quality of life”, which also reinforces “the active participation of the representatives of people living with rare diseases”.

Paulo Gonçalves argued that the communication made by Ana Povo at the closing of the 5th Meeting of the Scientific Council of RD-Portugal on Thursday should be related to the work developed by more than 80 experts during the meeting.

The subject under discussion was the importance of the registration of rare diseases in the context of the National Electronic Health Register and the impact it will have on both Portugal and the European Health Data Area

By collecting contributions from participants, RD-Portugal intends to draw up a document with proposals to improve the registration and provision of information to health professionals and patients with rare diseases about their health condition and their care.

It also intends to propose a joint campaign with the agencies of the Ministry of Health to raise awareness of the importance of updating this information, with a view to the obligation laid down by the Health Data Sharing Diploma between the European States.

According to Ana Povo, the programme will have a budget planned from the outset, so as to ensure that the definition of priorities can be accompanied by the instruments necessary for its implementation.

Among the intervention areas identified in the strategy are the improvement of the diagnosis, the reduction of time to the identification of the disease, the referral of patients and the articulation between the different services and health institutions.

Research and innovation are also priorities through the enhancement of reference centres, participation in European networks, clinical research and the development of knowledge and therapeutic opportunities.

The creation of the programme does not, however, require coordination with the areas of education, employment and social security, as the needs of people with rare diseases go beyond the health sector.

It is estimated that in Portugal, between 600 and 800,000 people, have a rare disease.