The Rare Disease (R.D.) Day is celebrated annually on the last day of February in more than 80 countries. This commemoration aims to increase awareness about this type of disease and the difficulties that patients and their families face in their daily lives.
Chronic, serious and degenerative diseases that put the lives of patients at risk and that have a prevalence of less than five cases per 10,000 people are considered rare. There are currently around 8,000 R.D.s, the majority of which are of genetic origin. It is estimated that they affect close to forty million people in Europe, especially children. In Portugal, it is estimated that there are between six and eight hundred thousand people with this type of disease.
The variability of clinical practices and the insufficient knowledge on R.D. health professionals about R.D.s led the Directorate General for Health to create the Card for the Person with Rare Disease. The objective is to ensure that, in urgent situations, patients receive the best and safest care and avoid interventions that could harm their health.
In Portugal, there are two entities dedicated to this reality, namely, the Portuguese Alliance of Rare Disease Associations and the Raríssimas Association.
On the occasion of the Rare Disease Day, Raríssimas organized a Conference inviting physicians, nurses, caregivers and representatives of the Pharma Industry to review main Rare Disease themes, such as the importance of increase awareness within all Portuguese society, the new challenges for caregivers, the state of the art about nutrition and, new treatments and future perspectives for Rare Diseases.
João Roxo, Head of Rare Disease, PIAM Iberia has been invited as speaker, to witness the commitment of the company to give all possible support to patients and families in this important area.