Orphaned children are waiting for foster parents
Rare diseases – finally in the law
Amendments to the Federal Law "On Orphan Drugs" are being prepared
Elena Petrova, Rossiyskaya Gazeta, 01.06.2010.
To the Orphan (from Lat. – orphan) diseases include those that affect 5 people out of 10 thousand. But since there are about 7 thousand such diseases today, it turns out that a significant number of Russians suffer from rare diseases in total.
According to various estimates, their number ranges from 1.5 to 5 million people, and only 50 thousand beneficiaries receive the necessary medicines, whose diseases are included in the state program "7 nosologies". Obviously, the program needs to be expanded, but this is hindered by the absence of the concept of "rare disease" and personalized patient registers in the legislation.
Currently, the Ministry of Health and Social Development of Russia is developing a draft law "Fundamentals of the legislation of the Russian Federation on the protection of citizens' health", which will prescribe the concepts of "rare (orphan) diseases", "orphan medicines" and "palliative care". Also, by September, registers of such patients should be formed and amendments on "orphan drugs" to the Federal Law "On the Circulation of Medicines" should be worked out. In the future, all these measures should protect orphan patients.
Take, for example, diseases such as hemophilia, Willebrand's disease and congenital immunodeficiency. All these diseases have a genetic nature, and without constant preventive treatment can lead to death. The only difference is that only hemophilia fully falls under the "7 nosologies" program.
Only men suffer from hemophilia. Due to a lack of blood clotting factor, the patient develops internal bleeding - primarily in the joints, in particularly severe cases – the abdominal cavity. Without appropriate treatment, this led to disability already at the age of 12-13, and the average life expectancy barely reached 30 years.
Previously, it was believed that hemophilia is transmitted exclusively by inheritance. Then scientists found out that about 40% of all hemophilia are associated with a random mutation of parental genes, that is, no family is immune from the birth of a sick child. "We had a very high divorce rate, it went over 50%. Fathers left their families because they were not ready either for suffering or for raising such a child and blamed mothers for hiding "bad heredity," recalls Yuri Zhulev, president of the All–Russian Society of Hemophilia, and adds that the situation has changed now. After all, today there is no such hopelessness, which previously surrounded the life of a child with hemophilia. First of all, thanks to the "7 nosologies" program, according to which sick children and adults receive expensive medicines for free.
In Willebrand's disease, as well as in hemophilia, blood clotting is impaired due to a deficiency or dysfunction of the Willebrand factor. The prevalence of the disease is 1 in 800-1000 people, that is, according to approximate estimates, 145 thousand Russians suffer from it. Most of them do not even realize that frequent bleeding is a symptom of a serious blood disease. About 65% of women with Willebrand's disease suffer from menorrhagia – copious and prolonged menstruation, which leads to the development of anemia. But the disease is especially insidious immediately after childbirth. During pregnancy, blood clotting indicators normalize, but in the postpartum period they drop sharply, which is fraught with the development of severe bleeding.
"Unaware of their illness, Russians drink different pills, tinctures, although in fact they have one of the five types of Willebrand's disease, which needs to be treated quite differently," says Yuri Zhulev. "Some of them need the same blood clotting factor therapy as patients with hemophilia. Of course, in this case, therapy has its own characteristics, which, unfortunately, are often not taken into account. As a result, this problem is not taken into account when purchasing and supplying preferential blood clotting factors to the regions. Often the regions do not take this into account when drawing up applications and then they themselves have to look for ways to solve the problem," he said.
The situation is no better with the provision of medicines to patients with hereditary or, as doctors call it, primary immunodeficiency. In total, about 100 varieties of such disorders have been discovered to date, which occur in about one patient per 10 thousand of the population. The first manifestations of the disease are diagnosed in infancy, in milder cases – in adolescence.
"Persistent bronchitis, pneumonia, purulent otitis media and rhinitis, abscesses can be symptoms of congenital immunodeficiency,– explained Tatiana Latysheva, Professor, Doctor of Medical Sciences, Head. Department of Immunopathology of the FSBI "SSC Institute of Immunology" of the FMBA of Russia. – The immunity of such patients cannot cope with infections without drug support. With primary immunodeficiency, patients need monthly replacement therapy with expensive blood products."
Just as it was with patients with hemophilia 10 years ago, today patients with immunodeficiency are infected with hepatitis C in 100% of cases. Just like patients with hemophilia, without receiving treatment, they find themselves locked in four walls. Children suffering from primary immunodeficiency cannot go to schools and kindergartens, because they can easily catch any infection and die. If in childhood they receive a disability group, and with it a number of small social benefits upon the fact of making this serious diagnosis before the age of 18, then – such is the legislation – they are removed from disability. If they miraculously remain alive, they are again given a disability group already on the fact of disability. They are being treated again...
Sometimes they recover in a few months of treatment, then they are again removed from the disability group! And they find themselves faced with a choice: either to die, or by a miracle, having got money for an expensive medicine somewhere, to prolong their life for at least a month. To break this "vicious circle", many do not have the strength and capabilities...
Their life depends entirely on medications, but if they are treated according to modern clinical protocols, observing prescribed dosages, then it is possible to achieve a preventive effect, increase the duration and improve the quality of life, according to employees of the pharmaceutical company "Oktafarma", which produces drugs from plasma.
This also applies to other orphan diseases. Timely and complete provision of medicines will allow patients with rare diseases to maintain their health and benefit society, as has been happening for a long time throughout the civilized world. Although the systems of drug provision for orphan patients in developed countries are different, the result of their use is the same – all patients receive the necessary treatment. And manufacturers of "orphan drugs" – state support. The budget also finances the procedure for registering these medicines and conducting clinical trials. If the domestic healthcare system switches to similar forms of work, then it will be possible to live normally with a rare disease in our country. The beginning of this process has been laid: already in the fall, rare diseases will receive legal status.
Portal "Eternal youth" http://vechnayamolodost.ru02.06.2010