28 February marks the World Rare Disease Day, This date aims to raise awareness of the challenges faced by those living with these diseases and to reinforce the need for early diagnosis, specialised monitoring and fair access to healthcare.
A rare disease is one that affects fewer than 1 in 2,000 people. Despite the low individual prevalence, it is estimated that there are between 5,000 and 8,000 different rare diseases, which together affect millions of people in Europe and about 700 thousand in Portugal. Many of these diseases are genetic, complex and degenerative, often associated with functional limitations, emotional impact and socio-psychological challenges for both individuals and their families.
To support these patients, the Rare Disease Card, available at SNS Portal 24 and the SNS 24 App, which allows health professionals quick access to essential clinical information in emergency situations or transition of care, promoting greater safety and continuity of care.
In a context of high clinical complexity, physiotherapy plays a decisive role. As part of interdisciplinary teams, physiotherapeutic intervention focuses on preserving functionality, promoting autonomy and maximising active participation in daily life.
Intervention is always individualised and adapted to the person and the evolution of the clinical condition, and can include different approaches according to need.
The training of carers and family members and therapeutic education are also fundamental, promoting health literacy and greater safety and participation in the care pathway.
Rare diseases continue to pose significant challenges to health systems and society, including delays in diagnosis, gaps in care coverage and inequalities in access to specialised responses. In this context, it is essential to strengthen integrated, articulated and person-centred care models.
On this World Rare Disease Day, the Order of Physiotherapists reaffirms its commitment to an intervention based on scientific evidence, continuous throughout the life cycle and aimed at improving the quality of life of people living with these conditions.