Protests, lawsuits, and video appeals to the governor – in the Krasnodar region, families of patients with spinal muscular atrophy (SMA) are using every means at their disposal to get the medication they are entitled to by law, which costs millions of rubles. This year they succeeded. But will they be able to do so in the future?
In the first months of his life, Vanya Kotov looked absolutely healthy. According to his mother Natalia, he was active, ate well and developed normally. But from the age of three months, the child began to gain weight and move less. When Natalia took her son to a scheduled visit with a neurologist, he raised an alarm. The baby lacked the necessary reflexes. Genetic analysis revealed type 1 spinal muscular atrophy (SMA) – the most severe form. This happened in the late fall of 2020. The child is now seven months old.
“In December, after an examination at the Krasnodar Regional Clinical Hospital, we returned home for a short time,” recalls Natalya Kotova. “But after the New Year we were forced to go back there [to the hospital] – the baby’s condition worsened. We started asking for Spinraza as soon as the diagnosis became known. Theoretically, they should have started giving it to us immediately – we even won a court case on this issue at the end of 2020. But instead of the drug, we received numerous dismissals from the regional Ministry of Health. Natalia calls these refusals “a series of words” – it seemed that they should provide the child with medication, but the final answer was still negative.
“Other officials also referred to Putin’s recently created fund “Circle of Good”, – says a young mother. – They claim that there is no money in the budget, but they expect purchases from the fund. That’s why we held our first picket on January 11. Five families – Surmanidze, Kotov, Khudoyan, Gorobinsky and Sologub – took part in this picket near the city administration building. Each of them has a child diagnosed with spinal muscular atrophy type 1. At that time, four babies were in critical condition in the intensive care unit. “When the neurologist at the clinic first told us that our son had SMA, the ground fell out from under me, there was hysteria,” says Zoya Sologub, mother of six-month-old Volodya. “But she calmed me down, told me that there was a drug called Spinraza, and that the government provided it. And when we actually tried to get it, the doctors literally laughed in our faces: “Spinraza”? Seriously? Forget about it. So out of helplessness, we took to the streets with posters. While we were in the hospital, everyone got to know ….” The first picket brought no results: the parents of the children continued to be promised that medicines would be purchased soon, but there were still none.
We explain quickly, simply, and clearly what happened, why it matters, and what happens next. Episodes. End of story: Podcast Advertising. Spinal Muscular Atrophy (SMA) is a rare genetic disease that causes the body’s muscles to degenerate. It develops as a result of a mutation in the SMN1 gene, which causes the body to produce less of the protein responsible for the growth and survival of motor neurons. Patients die literally every day. There are several types of SMA, depending on the age of onset and severity of progression. The “first” type of atrophy is the most aggressive. It develops primarily in infants and leads to paralysis and suffocation. Without treatment, infants usually do not survive beyond two years of age. Today in Russia more than a thousand people live with this diagnosis. There are only three drugs capable of slowing down or stopping the progression of the disease – “Spinraza”, “Risdiplam” and “Zolgensma”. “Spinraza” is administered to the patient under the spinal cord sheath – “loading” doses are given on days 1, 14, 28 and 63 of treatment; they cannot be skipped or the effect will be lost. Then the drug is administered every four months for life. One dose costs 6-8 million rubles. “Spinraza” was registered in Russia in 2019 and included in the list of “vital and essential drugs” (VED), the acquisition of which is guaranteed by the state to its citizens. “Risdiplam” was only recently approved and became available for sale at the end of February. However, as of January 14, 2020, its manufacturer, the Swiss company Roche, has launched an “early” access program, making it available free of charge to patients with type 1 and type 2 SMA. This program will end this summer. “Risdiplam is also taken for life, but unlike Spinraza, it can be taken at home as a regular medication. “Novaya Gazeta provided an approximate cost of the annual course – 340,000 dollars per year, or 25 million rubles. “Zolgensma” has been recognized as the most expensive drug in the world – the cost of one dose reaches 2.2 million dollars. However, it is capable of stopping the development of SMA with just one injection – the drug represents a working copy of the SMN1 gene and essentially replaces the defective gene. “Zolgensma has not yet been registered in Russia.
Natalia Kotova has been trying to get medicine for her son Vanya for several months. “When we realized that the procurement was planned for March, we started knocking on all doors – writing appeals to the governor, calling him, writing on social media, writing to foundations,” says Natalya Kotova. “But they only started treating us after the second picket, when actresses and doctor Alexander Kurmyshkin joined us.” Krasnodar Territory ranks third in Russia in the number of patients with SMA, with only Moscow and the Moscow region having more. According to the regional Ministry of Health, as of March 1, 2021, the region has “under observation” 61 children diagnosed with SMA, 25 of whom have first-degree atrophy. According to Alexander Kurmyshkin, a neurologist and specialist in rare genetic diseases from St. Petersburg, in 2020 and early 2021 there were several “waves” of patient struggle for “Spinraza” in the Krasnodar region. Kurmyshkin heads the charitable foundation “Assistance to Families with SMA” and travels around the country counseling patients and helping them obtain necessary medications from regional authorities through the courts. He has also provided assistance to families with SMA from Krasnodar Region.
Alexander Kurmyshkin has been helping children with spinal muscular atrophy for many years. “The fight began in 2020: we won several cases, and the Kuban authorities provided medication for two people – a young girl and a baby. These were among the first similar court decisions in Russia,” the neurologist recalls. “But then the COVID-19 pandemic started, and officials started using it as an excuse. And they denied people treatment. We continued to win cases – there are fourteen of them now. But there was no result. In addition, the regional Ministry of Health began filing counterclaims, although none of them were ultimately satisfied. In the summer of 2020, an eight-month-old girl with SMA died in Krasnodar without treatment, Kurmyshkin says. According to him, due to the coronavirus, she was even denied a medical commission. Lawyers of the foundation “Help for Families with SMA” have appealed to the Investigative Committee (the Russian service of the BBC sent a request to the Investigative Committee). “And then, as often happens in thrillers, something unexpected happened,” says Kurmyshkin. “In late November-December, four infants in the region were admitted to intensive care with a diagnosis of SMA. In addition, some of them already had positive court decisions. But everyone was waiting for the “Krug Dobra” Foundation to start working and did not buy the drugs. According to the doctor, the first picket organized by the parents of the babies in January was unsuccessful due to poor organization: “Such actions only work when the information reaches the Moscow level. No one in the region cares. However, at the end of December, the prosecutor of Krasnodar region, Sergei Tabelsky, made a recommendation to the head of the region and sent him a letter about the need to allocate additional funds for medication for sick children. “The analysis of the reasons for the shortage of medicines revealed insufficient funding and even bureaucracy in the procurement process from the budget,” emphasized the regional prosecutor. The second picket took place on February 3. Kurmyshkin prepared an appeal to the governor, Veniamin Kondratyev, and letters to law enforcement agencies. Information about the upcoming action was sent to the media. On February 1, two days before the picket, actresses Alena Khmelnitskaya and Maria Kojevnikova made a video appeal to the head of Kuban on Instagram. They are involved in helping children with spinal muscular atrophy (SMA). They spoke about the babies in the intensive care unit in Krasnodar and asked for help. Khmelnitskaya called the situation with the provision of medicines “outrageous”. “Please tell me, what should parents do?” she asked Kondratyeva. “Should they watch their children slowly die? How many more child deaths will it take for the law in our country to start working, for children to get the medicine they are entitled to?” Maria Kozhevnikova said that what is happening in Kuban is “hell on earth”. The next day after the video appeals, the regional Ministry of Health announced that the head of the region, Veniamin Kondratyev, had ordered that 500 million rubles be allocated to provide medicines for the residents of Kuban. The money was to be used to treat patients with SMA, as well as “those suffering from diabetes, oncology, epilepsy and other serious diseases. Members of the regional parliament were to discuss the issue at the February session. The day before the picket, parents and Kurmyshkin met with the leadership of the Investigative Committee of the region, where they talked about problems with obtaining medicines, he recalls. Two parents confirmed the information about this meeting to the BBC. “There are court rulings with immediate enforcement, but patients are not provided with medication. And they reacted quickly. After the investigative committee, we went to the Ministry of Health. And they greeted us as if they had been waiting for us all our lives: “Why didn’t you come sooner?” And soon four children who were in intensive care were given medication. Before the picket in 2020, only six patients had received Spinraza – these are the ones we started fighting for a long time ago,” Kurmyshkin says.
In March, a new patient with a severe form of SMA appeared in Kuban – Ilya Kokarev. Today, Vanya Kotov and Volodya Sologub, along with three other children whose parents participated in the winter picket, received their first doses of Spinraza. However, it is unclear who will pay for the remaining injections that will be needed in a few months. It is also unclear what sums are allocated for this purpose in the budget of the Krasnodar region for 2021. So far, the parents with whom the Russian service of the BBC spoke, officials are convinced that without treatment their children will not survive. “We’re not crazy to spend hundreds of millions and then abandon you,” is the message parents of children with SMA receive in private conversations. “We don’t know anything,” says Natalia Kotova. “We were told that all the data about us has been collected and sent to the federal authorities, and now it depends on the ‘Circle of Good’ fund. They say that our fourth dose will be mandatory, but I am still calling regularly to clarify. It’s scary that the treatment will be interrupted. According to the Kuban Ministry of Health, in 2020 and taking into account the current year 2021, 390.5 million rubles were allocated for the purchase of “Spinraza” in the region. “The treatment called “Spinraza” is currently being received by 14 children,” said the ministry’s response to the inquiry of the Russian service of the BBC. But not all of them are supported by the budget alone. Something like a miracle helped three children to get medicine. Moreover, this miracle happened far from Krasnodar. Lyubov and Zaurbek Badoev, residents of Sevastopol, have been waiting for their first child for ten years. The little girl Zarina was born healthy and happy. But soon the problems began. “Zarina was 2 months old when we began to notice that something was wrong with our little one: she did not latch onto the breast well, she cried, especially when we put her on her stomach, she stopped lifting her head,” Zarina’s mother wrote on her Instagram page. “The doctors advise massages and exercises. But we see that her motor activity is decreasing! Hospital. Tests. Diagnosis. Type 1 spinal muscular atrophy.” Fighting for their daughter’s life, the parents began to raise money for “Zolgensma”. Stories about Zarina were broadcast on federal channels. Almost a year later, when more than 115 million rubles, or 75% of the required amount, had been collected, something incredible happened – Zarina won a lottery held periodically around the world by the Novartis company, the manufacturer of “Zolgensma”. After winning the lottery, the family transferred the money they had already raised for her to the “Be Kind” charity fund that had helped them. “We immediately asked: let’s help children who desperately need help. We know that for children with SMA, every day is a loss. We fought for four months to get Spinraza for our daughter. This is of course a huge burden on the local budget. We managed to buy it only through the court and thanks to the help of Alexander Kurmyshkin. We received six bottles,” – said Zaurbek Badoev, BBC. According to Badoev, they decided to help the Krasnodar patients with “Spinraza” thanks to their acquaintance with the mother of one of the babies. The parents of all children with SMA actively communicate with each other, “like one big family”. In the end, the Foundation spent over 52 million rubles to buy medicine for three children – one of them was Volodya Sologub. The remaining money will be distributed to other children with various illnesses.
Without waiting for court decisions on the supply of “Spinraza”, some parents agreed to replace it with “Risdiplam”. According to the regional Ministry of Health, 24 children have been treated with it since June 2020 to date. “We learned about our son’s diagnosis in December 2019,” says Evgenia Polyuan, the mother of three-year-old Ilya Khudoba. “In January, we already submitted documents to obtain [“Spinraza”]. In May, we had to go to court because we kept getting responses saying that there were no funds. In July, we won the case and the decision went into effect immediately. The Ministry of Health appealed, but the appeal was rejected. However, we still haven’t received Spinraza.
Yevgenia Polyuan has started fundraising to buy the drug “Zolgensma” that would help treat her son Ilya. Later, the neurologist who sees Ilya informed his parents that the boy has been accepted into the “early access” program and will now receive “Risdiplam”. In November 2020, the treatment began, and according to Evgenia, she is satisfied with it: “Positive dynamics are visible, the administration of the drug is convenient and, most importantly, there is no deterioration”. “In January 2021, we received a call from the Ministry of Health and they asked us: what are we going to continue taking,” Evgenia says. “We replied that we will continue to take “Risdiplam” and they seem to promise to procure it for us. But we are still collecting funds for “Zolgensma”, we have already collected 13 million. The situation with three-year-old Mark Ugrehelidze is even more uncertain. As with other children, according to the medical commission, he was prescribed “Spinraza”. In the spring of 2020, the child’s parents applied for access to this drug. Almost immediately, the doctors offered them to participate in the “Risdiplam” program.
Mark Ugrekhelidze’s parents are worried that in a few months their child will be without medicine. They agreed and tried to buy Spinraza at the same time. They won the case, but the drug was never delivered. “The court’s decision implied their immediate procurement,” says Malhaz’s father. “In June, they will no longer provide us with free distribution of ‘Risdiplam’, and we do not have ‘Spinraza’ either. We do not know what to do in this situation. For now, we have also started a collection for the injection of ‘Zolgensma’, found a clinic where it can be done, but it costs 2.2 million dollars. So far we have collected only 9 million rubles – it’s a drop in the ocean.
The “Circle of Good” Fund, created at the initiative of President Vladimir Putin, began its work on February 3, 2021. Its goal is to finance medical assistance for children with serious, life-threatening and chronic diseases. The Fund is to be financed by the “Tax on the Wealthy” – an increased personal income tax to be introduced from January 1, 2021 for people with an income of more than 5 million rubles per year. Today the fund received the first tranche of 10 billion rubles, and this amount will increase to 60 billion within a year. “The Fund has already considered over 800 applications from patients,” the BBC’s Russian service was told by the Health Ministry. “Purchases are under way, but the exact amount that will be allocated for medicines for children with spinal muscular atrophy (SMA) will be determined only after the Fund’s expert council reviews all the applications.” In mid-February, all three drugs for SMA, “Spinraza,” “Risdiplam,” and even the super-expensive “Zolgensma,” were added to the list of drugs purchased by the fund. “At the moment, we know of only one purchase for four children with spinal muscular atrophy,” Oksana Ducevich, a hotline consultant for the SMA Families Foundation, told the BBC’s Russian Service. “These are young children and they urgently needed help.” According to a representative of the foundation, patients have very high expectations of the Circle of Kindness. In reality, however, the news of its launch hinders access to medicines in the regions. “According to our information, local health ministries are in no hurry to spend budget money on Spinraza because they are waiting for Circle of Kindness purchases,” she says. Either the regions have understood it that way, or they pretend to, but even those patients who have court decisions with immediate enforcement in their hands now receive responses like, “Your data has been forwarded to the Ministry of Health of the Russian Federation, please wait for purchases.” Sometimes they are even denied the conduct of a medical commission to prescribe the drug, because when they collected applications for the “Circle of Kindness” there was no strict attachment to it.
Ilya Kokarev does not yet receive any medication for SMA. In the risk group are also those who will stop receiving free “Risdiplam” in the summer. They are afraid that there will be interruptions. People are turning to the Ministry of Health with a request to allocate funds – and they are also sent to the Circle of Kindness,” Oksana Ducevich continues. Overall, the number of people in the country receiving various treatments from the State Medical Assistance (SMA) is increasing, but they are more often redirected to the fund, even though the responsibility of the regions to purchase medicines for patients has not been abolished: “Voluntarily or involuntarily, it’s like this: we’ve transferred you to Moscow, and that’s it.” “In addition, there are questions about the organization of the ‘Circle of Kindness’ work,” Ducevich said. “There is little information about it, and we want more transparency: about the timing of provision, the number of patients, and who will be the first to buy the medicine. The foundation is supposed to help children – but what happens when they turn 18? Both Risdiplam and Spinraza need to be taken for life. Who will buy them when they reach adulthood? There should be some continuity. In order for the fund to work efficiently and transparently, a platform will be created for submitting applications with children’s medical documents, Alexander Tkachenko, Chairman of the Board of Directors of the Circle of Good, recently said in an interview with the Social Information Agency. “They will be reviewed by a group of experts and a decision will be made about providing medical assistance or conducting additional research,” he explained. He also noted that it will be possible on the platform to track the path of the request from its creation and consideration to the decision, purchase of the drug, transfer to a medical institution, and even study analysis of treatment outcomes. As noted by the Kuban Ministry of Health, a request has been submitted to “Krug Dobra” from the region, which includes all children with spinal muscular atrophy (SMA) who have indications for treatment with “Spinraza” and “Risdiplam”. However, the response does not indicate what should be done for patients who need the drugs now. Meanwhile, in early March, a new patient with aggressive spinal muscular atrophy appeared in Kuban – two-month-old Ilya Kokarev. He is already in a critical condition, on a respirator, although not long ago he was actively growing and smiling. According to his father Vyacheslav, the medical commission assigned the baby “Spinraza”. “At the Ministry of Health, they told me that since Circle of Kindness had started working, they were going to transfer us there and that the procurement would take place in May,” he said. “I was in shock. Two months of waiting for a small child with SMA is a lot. He could die in that time. I contacted the manufacturing company “Zolgensma” and they told me that the child is currently fully preserved. And if he is given an injection, he can be saved”.