Rare diseases without borders
International Day of Patients with Rare (Orphan) Diseases
RIA NewsThe International Day of Patients with Rare Diseases is celebrated on February 28.
This day has been established and held by the European Organization for Rare Diseases (EURORDIS) and its coordinating body – the Council of National Alliances (Council of National Alliances) since 2008.
In leap years, it is held on February 29. It has been celebrated in Russia since 2009.
In 2013, the International Day of Patients with Rare Diseases will be held under the slogan "Rare Diseases without Borders" (Rare Disorders without Borders).
Rare (or orphan) diseases are considered to be those diseases that occur in a small number of people relative to the total population. In Europe, rare diseases include those with a prevalence of 1:2000 or less. Orphan diseases in Russia are considered to be those that occur in no more than 10 people per 100 thousand of the population.
Modern medicine knows about six thousand rare diseases that affect more than 60 million people worldwide. In Russia, from 1.5 to 5 million people suffer from such diseases. At the same time, an average of five new diseases are described in the medical literature every week.
Among them there are very exotic ailments: Kabuki syndrome, Pallister-Killian syndrome, progressive bone heteroplasia, Niemann-Pick disease, Gaucher disease. There are also those that are more common: cystic fibrosis, hemophilia, various forms of cancer, myeloma, Alzheimer's disease, Huntington's disease, mucopolysaccharidosis, leucinosis, etc.
About 80% of such diseases are severe chronic diseases. The symptoms of such a disease may be obvious from birth or manifest in childhood. At the same time, more than 50% of rare diseases are diagnosed already in adulthood. There is no effective treatment for most rare diseases, but there are methods to improve the quality and life expectancy of patients.
On January 1, 2012, a new law "On the basics of protecting the health of citizens of the Russian Federation" came into force, in which one of the articles is devoted to rare (orphan) diseases. For the first time, with the adoption of a new law in Russia, the concept of rare diseases and orphan drugs was introduced at the state level, their definition was given and the criterion for attribution to rare diseases was adopted.
The Ministry of Health has formed two lists of rare diseases. One includes all diseases that, based on statistics characterizing their prevalence in Russia, can be classified as rare, regardless of whether there are currently treatment methods and adequate drug therapy for these diseases. The list includes 230 diseases.
Another list – life–threatening and chronic progressive rare (orphan) diseases that lead to a reduction in life expectancy or disability - includes 24 diseases. These are those diseases for which there is currently a pathogenetic treatment, i.e. treatment aimed at eliminating the pathological process, and not at the symptoms.
Portal "Eternal youth" http://vechnayamolodost.ru28.02.2013