The information center will help orphans

The All-Russian Information Center for Rare Diseases and Medicines - "orphans" - opened in St. Petersburg on September 25 and will start operating normally on September 28. Svetlana Karimova, president of the National Association of Patients with Rare Diseases "Genetics", told IA REGNUM that a hotline (812) 319-34-23, consultations of doctors, psychologists, lawyers, social workers will function as part of the center's work.

"Seven years ago I became a mother and at the same time I found out that my child had a genetic disease, I decided that the parents of such children should unite, we created the charity organization Angel, and then the National Association of Patients with Rare Diseases Genetics was created. Every 4 years, on February 29, the Day of Patients with Rare Diseases is celebrated all over the world, since 2008 it has been celebrated in Russia. We want patients with rare diseases to have access to adequate diagnosis and treatment, which is usually very expensive," Svetlana Kerimova said.

According to Alexey Sokolov, MD, Vice-president of the National Association of Patients with Rare Diseases "Genetics", in the European Union, a rare disease is considered to occur less often than in 5 people per 10 thousand of the population. In the world, it is customary to designate medicines that treat diseases such as orphan drug - a drug that has no commercial prospects, but is necessary to maintain health, and even to save the lives of patients with rare diseases.

"A number of countries have adopted and are funding special programs for the production of such drugs, benefits for development companies. In Russia, there are still difficulties even with the import of drugs, many of which are not registered in the territory of the Russian Federation, there is no register of patients with rare diseases in the country, there is no continuity in the treatment of children and adults with rare diseases, etc.," Sokolov said. According to the specialist, the mass screening of newborns organized during the implementation of the national project "Health" covered only 5 hereditary diseases (phenylketonuria, congenital hypothyroidism, galactosemia, adrenogenital syndrome, cystic fibrosis), while there are several thousand hereditary diseases.

Olga Yanushanets, professor, employee of the Laboratory of Molecular Diagnostics of the St. Petersburg Pediatric Academy, is sure that the All-Russian Information Center on Rare Diseases is necessary, but believes that it is necessary to find out what contributes to gene mutation, and for this we need funded research programs. "I only welcome the steps of medicine in the possibility of maintaining the health and life of such children, but we should all remember that this will increase the number of genetic diseases in the future," the specialist believes.

Portal "Eternal youth" http://vechnayamolodost.ru
28.09.2009