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Experts urged to remove burden of treating critically ill children from KXan 36 Daily News regions

Date: February 2, 2023 Time: 18:30:29

The expansion of neonatal screening will make it possible to identify tens and hundreds of times more patients for a number of disease forms, explained Sergey Voronin, chief physician of the N. Bochkov Medical Genetics Research Center:

– It was once thought that one person in 400,000 suffers from Fabry disease. When they began testing newborns in Italy, it turned out that its prevalence was one case in three thousand. Congenital retinal dystrophy is estimated to occur in one in five thousand babies. SMA is most likely to be detected in one in seven thousand people; It will no longer be a rare, but often extremely serious disease … In Russia, pathologies are considered to have no more than 10 people out of 100 thousand. orphan. In Europe, the criterion is different: one case in two thousand (that is, five times more than in our country). Diseases such as cystic fibrosis and phenylketonuria occur in one in four thousand people. Duchenne myopathy: one in five thousand children. But with us there are no orphans. Several dozen diagnoses are included in Russian registries, and more than six thousand of them are described in medicine.

With an increase in the number of patients, the difficulties with the supply of medicines will obviously become more acute. The problem with the financing of the federal program “14 high-cost nosologies” was solved by transferring the children included in it to the care of the “Circle of Good”. The State Duma approved the bill on this at the third reading on November 23. What to do with those who are paid for drugs locally?

– If “expensive” patients were not included in the existing programs at the time of the formation of the budget, then it is difficult to cope. The financial plan is formed in the fall. You can request additional funds at the turn of the six months. But when a person is diagnosed in September-October, money is usually not found, especially for adults, – acknowledged Yulia Maksimova, chief specialist in medical genetics of the Novosibirsk region.

There are 17 nosologies in the regional list of rare life-threatening diseases. Almost every new patient is a big hit to the budget. But genetic disorders can run in the whole family.

– In Nizhny Novgorod, family assessment revealed 10 people with Fabry disease, six of them needed treatment, including three children. For the region, the simultaneous appearance of such a number of patients with expensive therapy was a shock, said Elena Khvostikova, director of the Genom Patient Assistance Center.

There is not enough money for subsidized drugs in most subjects of the Russian Federation. The lowest supply of “orfanniks” is in the Vologda, Kursk and Tatarstan regions. There, respectively, 40, 38 and 19 percent of patients with diagnoses from the life-threatening rare list receive medication, Elena Krasilnikova, head of the project office of the National Health Research Institute, told RG. Public N. Semashko:

– For several regions this charge is not reasonable. In the Altai and Trans-Baikal Territories, the Tambov region, Tyva and Chechnya, orphan patients spend 40 percent of the funds allocated to all local beneficiaries. In Karachay-Cherkessia, the Stavropol Territory and the Sakhalin region – a third. In Penza – a quarter. Not all regions generally provide us with information. For example, the disadvantaged Oryol region has not responded to inquiries for several years.

The tactic of officials in relation to the “orphans” of the regional list (and even more so those whose diagnosis is not included in the lists) is simple: if you want to be taken care of, file a lawsuit. According to Krasilnikova, according to the court, this year medicines have been provided to six patients in the Volgograd region (four of them are children). The same number – in Dagestan (children – four) and the Ivanovo region (including one child). In the Nizhny Novgorod region, the courts supply 12 rare patients, three of them are minors.

Now there are about 8,000 children diagnosed as orphans from the regional list. Starting in the new year, as already mentioned, there will be more. To ensure timely and adequate therapy, it would be logical to transfer them to the care of the “Circle of Good”.

– This will make it possible to create a unified mechanism for the provision of drugs to children in the country, – explained Elena Khvostikova. – If all “rare” children are supplied at the expense of the fund, then the treatment of adults will be less burdensome for the regions.

In Russia, orphan patients receive medicines under various programs. Their criteria no longer correspond to the real situation, experts say. Therefore, only those whose diagnosis falls on one of the two lists can receive therapy, regardless of age and disability: “14 high-cost nosologies” are funded by the federal treasury, 17 life-threatening rare diseases are financed from the budget of the regions (by Decree of the Government of the Russian Federation No. 403). Both lists have not been updated once in 11 years. According to Elena Krasilnikova, they must be reviewed at least every three years. After all, drugs for those whose diagnosis is not on any list are purchased only by court decision. An example is Pompe disease, similar to SMA. At one time, it was not included in the federal list, since the necessary drug was not registered in Russia. The registration was soon completed, but the situation of the patients – today there are 40 of them throughout the country – did not improve.

According to the Genome Patient Care Center, about half of children and 23 percent of adults with rare diseases receive drugs under the 14 VZN program. According to resolution 403, another 30 percent of children and 27 percent of adults. A fifth of orphan patients under the age of 18 (under the new rules, up to 19) receive expensive therapy from the Circle of Kindness. Outside this system are up to half of the “rare” adults. They can request the preferential benefit strictly in the presence of the second group of disabilities.

By the way

In September, “RG” spoke about the characteristic, unfortunately, the situation with the supply of medicines from an orphan patient, which has developed in the Oryol region. Danil Sizov has Pompe disease. He received medicine through the “Circle of Kindness”. Thanks to this, the child’s health was preserved; in 2022, he successfully graduated from school and entered the aviation academy in Moscow. In August, Danil turned 18, and since then the therapy has stopped. The Sizov family tried in advance to find out how the drug supply would be built with the transition of the guy to the category of adult patients. But all the responsible structures froze in the expectation that the powers of the “Circle of Kindness” would extend to children under 19 years of age. In Moscow, Danil only has a temporary residence permit. In order to be treated at the expense of the native region (within the framework of decree 890 of the government of the Russian Federation), he must get a second group of disabilities. But the guy’s condition isn’t that bad. The Sizovs are waiting for the court’s decision. The lack of treatment in recent months threatens to nullify all the results of the expensive therapy that Danil used in childhood.

Direct speech

Elena Krasilnikova, head of the project office “Rare (orphan) diseases” of the National Research Institute of Public Health named after N. Semashko:

– We do not have summary information on the number of orphaned patients. At least a third of them are not listed in the records. And for rare patients, “not accounted for” equals “not provided.” Unfortunately, the inequality of patients according to the age principle is fixed in the country. Thanks to the “Circle of Kindness”, children receive medicine even if the disease is not included in state programs. After the age of 18, access to therapy for them is only possible if they have the first or second group of disabilities. But this criterion is not suitable for orphan patients! Judge for yourself. There are more than 27,000 people in the federal high-cost nosology program, 74 percent of whom receive medication, 79 percent are non-disabled. There are more than 15 thousand patients in the regional program for rare life-threatening diseases: two-thirds are in therapy, 43 percent are not disabled. If the child was not disabled due to competent treatment, even after the age of 18 she must retain the right to drug coverage at the time of diagnosis. It would be logical to treat “rare” adults under the VZN program, including all diseases from the “Circle of Kindness” list.

Natalia Smirnova, member of the “National Council of Experts on Rare Diseases”:

– Most orphaned patients have SMA. Only 40 percent of them receive therapy, so most trials are for adults with this diagnosis. Medicines are purchased for them only in the presence of the first or second group of disabilities. With minor complications, they are unable to start therapy and are forced to wait for the condition to worsen. According to the forecast, 40 young people with SMA will leave the care of the Circle of Kindness each year. They will fall into the general queue of beneficiaries. We need an expanded list of life-threatening diseases and a separate line for them in budgets.

Hansen Taylor
Hansen Taylor
Hansen Taylor is a full-time editor for ePrimefeed covering sports and movie news.

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