INTERNATIONAL DAY OF RARE DISEASES

Every year, the last winter day on the calendar is marked as Rare Disease Day. This event is organized under the coordination of the European Organization for Rare Diseases – EURORDIS. Diseases that affect a small number of people compared to the total population are called rare.

In Europe, the disease is considered rare, if it affects one person in two thousand. Rare diseases are serious, often chronic and progressive ailments, many of which are still poorly understood. Patients with rare diseases have many difficulties — from determining an accurate diagnosis to being able to receive adequate medical care.

Rare diseases are usually difficult to diagnose, and it often takes years to get an accurate diagnosis. Even after the diagnosis of the disease, the treatment is unavailable or ineffective, which only increases the suffering of the patients and their family members. Orphan patients do not often live to old age, they are not helped by ordinary medicines, and their appearance is sometimes different from the appearance of ordinary people.

Most often, orphan diseases are detected in childhood – about 70% of children with such diagnoses die before the age of ten. But this does not mean that in adulthood there is no chance of getting a rare disease. Not all such diseases are hereditary and genetic, they can occur throughout life, and the causes of a large part of orphan diseases have not yet been established. At the same time, the treatment of children is often given much more attention than the treatment of adults.

Cystic fibrosis is a rare genetic disorder that occurs relatively often (about 1 in 2,500 births). Rare diseases change the lives of patients and their families, and some of them can even lead to death. Cystic fibrosis as a genetic disease is inherited in an autosomal recessive type and is caused by changes in the CFTR gene, which leads to a violation of the secretory function of the exocrine glands.

The F508 delta mutation is the cause of the majority of cases, and the number of possible CFTR gene mutations reaches more than 1,500. Due to the wide variety of mutations, cystic fibrosis can present with different symptoms, from mild to severe.