Therapy without cumulative effect – Picture of the day – Kommersant

The Department of Health of the Orel Region refuses to provide expensive treatment (more than 3 million rubles per month) to 18-year-old Orel resident Danil Sizov. Until reaching adulthood, a patient with a rare genetic disease – Pompe disease – received therapy at the expense of the state fund “Circle of Kindness”, and on August 31 he switched to the adult network. By law, adults with Pompe disease can only qualify for treatment benefits if they are disabled. The Kruga Dobra Foundation provided the patient with drugs to maintain health, Elena Khvostikova, head of the Genome expert assistance center, draws attention, and in order to continue free treatment, he must become disabled. According to the Circle of Kindness Foundation, in 2022, 121 more wards have turned 18 or will turn 18.

Danil Sizov is one of 25 Russians living with Pompe disease, a genetic disease associated with damage to muscle and nerve cells. On August 31, Danil turned 18 years old – he left the care of the Circle of Kindness Foundation for helping children with rare diseases. According to his mother Ekaterina Sizova, the children’s hospital even left a supply of the drug alglucosidase alfa, bought by the Circle of Good. However, doctors do not have the right to use it when the patient reaches the age of majority. Further, Danila Sizov should be provided with expensive therapy by his native region.

As follows from the letters submitted by Ms. Sizova to Kommersant, back in April the Oryol Department of Health asked the fund to continue buying medicine for Danil. But so far this is impossible: according to the charter, the Circle of Kindness can provide drugs to patients only up to 18 years of age. In July 2022, the Ministry of Health of the Russian Federation, in accordance with the instructions of Vladimir Putin, prepared a draft resolution on helping the “Circle of Kindness” to wards under 19 years old. The department told Kommersant that the document “is undergoing regulatory procedures and will be submitted to the government.”

“According to our calculations, about 3 million rubles are needed for treatment per month,” notes Ekaterina Sizova. “It is unrealistic to get that kind of money for our large family.” In September, the Department of Health informed Ekaterina Sizova that the need for funds to purchase the drug for 2023 would be taken into account when forming the budget for 2023 and the planning period of 2024 and 2025. “However, the issue of the possibility of purchasing the drug for your son at the expense of the budget of the Oryol region can finally be considered after providing … documents confirming the right to preferential medical care after reaching the age of 18,” the letter from the Oryol depzdrav says.

Elena Khvostikova, head of the Genome Center for Expert Assistance to Patients, explains that the documents in question are a certificate of disability of the II group (according to the Decree of the Government of the Russian Federation No. 890).

“That is, now Danil, with a severe life-threatening disease, in which the state budget has invested money in all previous years, in the last year provided the Kruga Dobra fund with the drug – precisely in order to maintain health, he must become disabled,” says Elena Khvostikova.

According to her, Danil was diagnosed at the age of 12, he received treatment and grew up as an “absolutely healthy person”: “Athlete, engaged in karate, prize-winner and winner of numerous tournaments, a young, strong, promising guy. This year he graduated from school with honors and entered the Moscow Aviation Institute. He is ready to fulfill his duty, to serve the Motherland, but in order to remain intact, lifelong drug therapy is necessary.”

On September 19, members of the Commission of Medical and Social Expertise denied Danil Sizov a disability.

Ekaterina Sizova notes that in an informal conversation, officials suggested another way to get treatment: registering her son “in the Chernobyl zone.”

The last infusion of the drug, according to Ms. Sizova, took place on August 28. The drug does not have a cumulative effect – as soon as the patient stops receiving it, the state of health worsens and regression occurs. “Support for the Circle of Kindness was in order to save the child’s life, and now we will break it only because the region refuses to fulfill its obligations,” the expert argues.

According to the data provided to Kommersant by the press service of the fund, in 2022, 121 wards of the Circle of Kindness turned or will turn 18 years old. “From the first year of the foundation’s work, it became clear that our wards would face the problem of continuity in treatment,” comments Alexander Tkachenko, head of the foundation’s board. He notes that in order to “expand the foundation’s mandate to include 18+ patients,” a number of tasks need to be solved: “For example, if the drug has already been delivered to a children’s clinic, should it be transferred to an adult? Should a pediatric or adult clinic prepare documents for a new application? Which clinic should be the recipient of the drug? And so on. These issues do not seem very important, but without solving them, the expensive drugs that the foundation provides for children may simply not reach patients.”

“We understand that the decisions that everyone is waiting for now (to extend the fund’s assistance to wards up to 19 years old.— “b”) will not solve the problem of securing all orphan patients for life. But even a partial expansion of the mandate gives additional time for discussion, finding solutions to provide drugs not only for children with severe and rare diseases, but also for “rare” adults.”

“Kommersant” sent a request to the Department of Health of the Oryol region, but at the time of publication did not receive a response. The Ministry of Health of the Russian Federation recalled that the “Circle of Kindness” is “an additional source of providing children with expensive medicines.” In accordance with the legislation, the main responsibility for treatment is assigned to the subjects.

Natalya Kostarnova