Rare Diseases Become a Priority Programme at Portugal's Health Directorate From January, With a Director and a Budget
From January 2027 rare diseases become a DGS priority health programme, led by Maria do Céu Machado, to deliver the 25 actions of a 2025 plan that never got off the ground. About 600,000 people are affected. How to get the rare disease card.
Rare diseases will become a priority health programme (Programa de Saúde Prioritário) of the Directorate-General of Health (DGS, Direção-Geral da Saúde) from January 2027, the Ministry of Health has announced. The programme will be directed by Maria do Céu Machado, who coordinated the national rare diseases action plan for 2025 to 2030, Público reported, citing the Lusa news agency.
The Secretary of State for Health, Ana Povo, made the announcement on Thursday, 5 November, at a meeting of the scientific council of RD-Portugal, the union of rare disease patient associations, according to Lusa. She admitted that the structure needed to put the plan into practice had never been set up after it was presented in February 2025, and said the associations "were right" to complain. Choosing Maria do Céu Machado, she said, "ensures coherence and continuity".
What a priority programme changes
The plan, Ação para as Doenças Raras: da estratégia à pessoa 2025 to 2030 (Action for Rare Diseases), sets out 25 actions built around four pillars, each naming the body responsible and a target. Until now it had no one in charge of delivering them.
According to the announcement as reported by Lusa, the new programme will have:
- its own director and a strategic plan;
- a budget from the start (no figure has been given);
- the job of carrying out and monitoring the plan's 25 priority actions.
Its priorities include faster diagnosis, shorter time to identify a disease, better referral of patients and coordination between services, plus research, reference centres (centros de referência, hospital units officially recognised for a group of conditions) and European networks. It is also meant to work with education, employment and social security, because the needs of people with rare diseases go beyond health care.
RD-Portugal's president, Paulo Gonçalves, said the association had long waited for this step, but had not yet seen the text of the despacho (ministerial order) creating the programme, Lusa reported.
Who is affected
In the EU a disease is rare when it affects no more than 5 in 10,000 people. Taken together, rare diseases affect about 6% of the population, and the DGS estimates about 600,000 people in Portugal live with one. Lusa's report puts the range at 600,000 to 800,000.
What it means for you: the rare disease card
The programme does not change how patients get the Rare Disease Person's Card (Cartão da Pessoa com Doença Rara, CPDR), a digital card that tells emergency teams about your condition and who to contact. Under DGS rule 001/2018:
- only your hospital doctor can request it, once the diagnosis is confirmed, during an in-person appointment;
- you must give written consent;
- reference centres must request it for every rare disease patient they follow;
- you can view and print it yourself in the citizen's area of the SNS (national health service) portal.
If you have a confirmed rare disease and no card, ask the doctor who follows you at hospital. In 2025, 1,803 cards were issued by 34 institutions, covering 594 different diseases, the DGS annual report shows; 12,784 have been issued since the card began in 2014.
The programme joins a health budget already under strain: see our report on the SNS's disputed shortfall for 2027.
