On the eighth of September is the world day of cystic fibrosis.This is the most common pathology among the hereditary diseases that in Russia really have not yet learned. To this day in social networks has deployed a flash mob to attract the attention of officials, physicians and the public to this problem. Patients and their parents put hashtags, in which are cited the authorities on which depends the provision of medicines and, consequently, the life of patients.
The most frequent of the rare
Contrary to popular belief, a rare disease is not so few people broken a carrier of cystic fibrosis gene is considered to be one in twenty whites.If such a mutation have both parents, the risk of having an affected child is 25%. That is why specialists consider that the statistics of cystic fibrosis patients in Russia is greatly underestimated. Patients much more only treat them from other diseases. According to official data, today in our country with this diagnosis live more than 4 thousand people, three quarters of whom are children.But to talk about the objectivity of these data will be possible only after several decades of operation of the Federal program of newborn screening, which is held in Russia since 2007.
With proper treatment, cystic fibrosis is not a sentence to the patient, say the initiators of the flash mob. In the West, such patients are getting a full, modern therapy, experiencing a 50-year milestone. Rosiyskogo patients the chance to live a full long life and benefit society will appear only under the condition that each of them, regardless of their place of residence will be available vital medications and therapy according to European standards.
Russian specificity
While this is not the same, as there is no single established pattern of care, often leading to tragic consequences.And this happens all over the country.
For example, patients with cystic fibrosis can not perform the intubation (introduction of a special tube into the larynx and trachea with their restrictions, threatening suffocation). This is due to the disease, however, there are no documents regulating the ban. At the same time, emergency physicians have their own regulations that require the implementation of certain procedures in critical States, including, and intonirovanie. In June, for this reason, killed a three-month baby, who had an attack of respiratory failure.
And it happened not in the wilderness somewhere, and one of the best children’s hospitals in the country Morozov.Standard procedure in this case, to connect person to ventilator, but for patients with cystic fibrosis prolonged stay on a ventilator is death. However, a huge number of resuscitation is unknown, because cystic fibrosis is a rare disease.
The more common situation of cross-infection of patients. In Rosieresite children’s hospitals do not have box offices that protect against such infections. And even in large parts of the patients often are admitted not according to indications, in offices without proper equipment. The last major scandal erupted a year ago, when it became known that during treatment in the Kemerovo regional hospital, several dozen children with cystic fibrosis were infected with a deadly dangerous infection (bacterium strain Burkholderia cenocepacia ST709). The children were followed in the Department of acute respiratory infections the regional hospital, where he lay patients and with other diseases. That happened cross-infection in children with cystic fibrosis, became known only after sending the tests to other laboratories in Moscow and Samara.
A flash of sepali in Kemerovo has exposed another problem in the country too little bacteriological laboratories, which held a really informative microbiological analysesof sputum on flora and sensitivity and resistance to antibiotics. In normal patients every three months should submit sputum cultures (and flora if aggressive, then once a month). But clinics are reluctant to give directions 057, which can be tested in the lab the other regions that know the specifics of the diagnosis.
Drugs through the Prosecutor’s office
Since 2008, Russia has a state program 7 high-cost nosologies, in which patients with cystic fibrosis are provided free of charge one of the vital medicines mucolytics enzyme dornase Alfa (Pulmozyme). The programme is financed from the Federal budget, and the performance is 98%. However, experts note that this is not enough to provide full-scale care.Universally, patients face problems with receiving basic therapy, antibiotics, enzymes to the pancreas, medications, specialized food.
The issues of provision of these medications are resolved at the level of regional health services, which, as a rule, no money for that. The result is a significant share of expensive drugs the patient has to buy it (basic treatment well-preserved child 5 years costs about 100 thousand roubles), said the father of the sick girl, Andrey Vasin. In addition, the background made tremendous efforts for the improvement of health with the patient off disability, with the result that he is losing drug benefits. Another problem arises when due to the aggravation required to buy expensive (costing up to 500 thousand rubles) antibiotics public procurement system is not designed for such speed.
No Federal preferential list and means of rehabilitation for patients with cystic fibrosis. In some regions are taking their own steps in this direction, some not. As told to Svetlana Sharifulina from Krasnoyarsk, was appointed in January medical Commission therapeutic feeding for her child were received in August, and then only through the intervention of the Prosecutor’s office. And in response to a filed in the medical Commission of the application for a special inhaler (all basic, vital therapy for cystic fibrosis inhalation) was rejected.
Unchecked generics the scariest thing for our children
In addition, the current treatment standard is at odds with clinical guidelines and Consensus for the treatment of cystic fibrosis. The fact that today there is a new medications used alone or enhance the effect of Pulmozyme.But the trouble is that the innovative pharmacogenetic (targeted) drugs that the whole world uses for many years, in Russia, even not registered, said the head. scientific and clinical Department of cystic fibrosis, Federal Medical genetic research center Professor Elena Kondratieva.Orphan drugs are very expensive due to the fact that such patients a little, and in cystic fibrosis we are talking about drugs for carriers of certain mutations.
Moreover, there are patients problems and basic treatment: if the Europeans treat their patients original drugs, according to Russian standards is allowed to replace generic.But to use generics and even change drugs to patients who are not suffering from chronic diseases, says Kondratyev. And in patients with cystic fibrosis are constantly recorded and the ineffectiveness of some antibiotics and the undesirable side reactions (for example, the use of pancreatic enzyme Micrasim).
Unchecked generics the scariest thing for our children, the body and so works hard, struggling with the disease, says Vasin. And in order to provide individual purchase the right medication, it is necessary to prove the presence of side effects. But why should we put such an experiment to sick children! And it is often this savings is completely false, as then you have to deal with the consequences of wrong treatment.
On the way to Western standards
In developed countries, the level of treatment of cystic fibrosis is an indicator of the development of national medicine.INUSA ieurope the problems of treatment of cystic fibrosis are solved with the help of targeted government programs and funds. In Russia today, the question is raised about the organization of regional centers of care for patients with cystic fibrosis, providing them with equipment.
Today in our country, 83 center for children and 10 for adults. And those that are, are far from perfect. The best situation is in the Moscow region, where, according to the President of the Russian Association of patients with cystic fibrosis, Professor mgnts Nikolai Kapranov, absolutely lethal children’s disease cystic fibrosis becomes a chronic pathology of adults. The average age of Moscow of the patients was 39.7 years, which is the leading European and American centres. In General, the share of adult patients is 28%, whereas in European countries exceeds 50%.
However, thanks to modern treatment, the life expectancy of patients with cystic fibrosis increases, and in other regions of the country. A generation grows up living with cystic fibrosis children who cross into the adult medical network. And there is a problem of lack of continuity between doctors, lack of centers and specialists who have experience with older patients in whom the specificity of cystic fibrosis. According to Kondratieva, today first need to create a network working to unified standards of regional centres for cystic fibrosis. Metropolitan specialists accept patients from across the country, go by yourself, consult remotely. But for the permanent management of patients should be specialized centers for the community.
What is cystic fibrosis
Cystic fibrosis, a systemic disease, accompanied by lesion of the exocrine glands and manifests itself in excessive accumulation of mucus in the lungs and gastrointestinal tract. Pathological changes occur due to mutation of a gene which is responsible for the synthesis transmembrane regulator cystic fibrosis. In the absence of treatment, only 12% of patients live up to 15 years children are dying because you can’t breathe normally and to digest food.
Irina Reznik