"So that no one is left behind"

Rare diseases include those that affect fewer than 5 people in 10,000. These are mostly inherited multisystem diseases that have a significant impact on the patient's quality of life or directly threaten their life. In the European Union, 6-8% of the population suffers from a rare disease, while in the Czech Republic over 600 000 people suffer from it. Many of these diseases manifest themselves in childhood. However, it is also possible to become ill in adulthood. At the hospital in Hořovice, patients with rare diseases are treated in several departments. One of them is the Department of Long-term and Intensive Nursing Care for Children (DIOP), which is unique in the Czech Republic. "At the DIOP we hospitalise paediatric patients with serious, life-limiting diseases. Often these are congenital metabolic defects or genetic syndromes. Long-term intensive care is part of a comprehensive approach to these children. It includes not only medical care, but also psychological, social and spiritual support for the children themselves and their caring families, ideally from the time of diagnosis," explains Mahulena Exnerová, MD, head of the children's ward at Hořovice Hospital, of which DIOP is a part.

"In our ward, we care not only for children after severe craniocerebral injuries, which fundamentally affect brain function, but also for children with various rare genetic defects and syndromes in the context of rare diseases," explains deputy head of the ward , Jana Djakow, M.D., Ph.D.

Adult patients with rare diseases are also treated at the Hořovice Hospital, for example with rheumatological, pulmonary, neurological, oncological or cardiovascular diagnoses. Up to 72% of rare diseases have a genetic cause and the average time to diagnosis in Europe is 5 years. "That is why we are striving for the health and social system to gradually adapt to the needs of people with rare diseases and their families," says Anna Arellanesová, Chairwoman of the Czech Association for Rare Diseases (CAVO).

Rare Disease Day has been commemorated for 18 years in more than 100 countries around the world, every year on the last day of February, to raise awareness of rare diseases and their impact on the lives of patients and their families. This year's motto of the day is: "So that no one is left behind."

The Hořovice Hospital will again symbolically support the Rare Diseases Day. On Friday, February 28, 2025, the hospital will light up in the colours pink, green and blue. "As a major healthcare provider, we are pleased to support this day and help draw attention to the needs of patients with rare diseases and their caring families," adds Mahulena Exnerová, MD.