"Circle of Kindness" and Alisa Kochetkova: why does the child not receive life-saving medicine?

Yelena Ivanova, Natalia Seibil

On the website of the charitable foundation "Help for SMA Families" there is a photo of the girl Alisa. Alisa Kochetkova lives in Astrakhan. In January, she turned one year and two months old. The girl has spinal muscular atrophy of SMA type 1. Doctors could not make a correct diagnosis for a long time, until it became clear what was wrong with the child. Alisa does not hold her head and can only move her arms and very little toes. In a little over a year of her life, the girl had already been ill with covid and pneumonia. Alisa had clinical death twice. Now she is on a ventilator. Very soon she won't be able to swallow or breathe.

Charitable Foundation "Help for SMA families" has already collected 147 765 884 rubles "Zolgensmu". The head of the foundation, doctor Alexander Kurmyshkin, Alisa's trusted doctor and 450 other patients with SMA, submitted Alisa's documents to the Circle of Good federal state fund.

- With regard specifically to Alisa Kochetkova. I am her official doctor. She lives in Astrakhan. In January she will be 1 year 2 months old. There is a terrible outburst against her. At first, they did not even want to treat her with the usual drug - "Spinraza", back in August I had to do this. - says Kurmyshkin.

Doctors in Astrakhan, having diagnosed Alisa, wrote an application to the state fund "Circle of Good". The medicine was supposed to arrive in 3 months, because they bring it once a quarter. The Alexander Kurmyshkin Foundation intervened, the doctors were forced to treat immediately, but time was lost.

- There is such a situation that doctors, pediatric resuscitators are faced with SMA for the first time. They think they know everything, but in reality they know nothing. They begin to treat incorrectly, give oxygen. This is where the deterioration starts. I deal with this on a daily basis. Moreover, they are so arrogant that they refuse to consult with Moscow, which I am trying to organize. They say: what do you teach us, we know everything. Now the situation is the same in Kazan, - states the doctor.

Alisa's parents turned to Alexander Kurmyshkin. The Foundation's doctors were allowed to see the girl only after applying to the prosecutor and the governor of the Astrakhan region. Now Alisa is at home on a ventilator. The Help for SMA Families Foundation is preparing her for transfer to a Moscow hospital and is raising money for Zolgensma.

Zolgensma, Spinraza and Risdiplam

Until recently, SMA was an incurable disease. The first drug appeared just a few years ago. Children with SMA are very dependent on medications. From the moment of treatment with older drugs - "Spinraza" and "Risdiplam" - the death of mononeurons that cause atrophy stops. If you take medicine all your life, the child remains in the same state in which the disease found him, sometimes improvements occur. These drugs are not cheap, they cost tens of millions of rubles, and they need to be administered every year. One dose of Spinaza costs $125,000. In the first year, patients need 6 infusions, and then 3 infusions each year.

The most expensive and newest medicine is Zolgensma. It costs 2 million 125 thousand dollars and is entered once. The action of this drug is aimed at replacing the mutated or missing SMN 1 gene, which is why SMA develops, with a functionally complete gene.

Zolgensma was not approved by the Ministry of Health for use in Russia until last autumn. From a legal point of view, parents who collected money for medicine and imported it into our country committed a crime. The situation changed when President Putin intervened, effectively legalizing the drug and organizing funding for the program. After increasing the personal income tax from 13% to 15%, it will be possible to attract more than 60 billion rubles, for which the state fund "Circle of Goodness" will purchase medicines for patients with rare diseases.

As planned by the government, the Circle of Kindness should become a place to receive money and purchase medicines for patients with orphan diseases. Olga Germanenko , a member of the large expert council of the State Fund, repeated several times that the medical prescription of the drug for patients with SMA and the consideration and approval of the drug within the Circle of Kindness are two different procedures that have nothing to do with each other. The Circle of Kindness checks documents and purchases drugs, and the attending physician and the council are responsible for what medicine the children will receive.

Without an appointment, the Circle of Kindness does not even accept an application. If patients apply for the appointment of "Zolgensma" to the State Fund for the first time, there should be no problems, except that the drugs are purchased once a quarter, and every month of delay brings the child closer to death.

It becomes even more difficult when small patients are already being treated with other drugs. Olga Germanenko emphasizes that there is an opportunity to switch to Zolgensma, which, for example, is not allowed in Spain. For replacement, a consultation is needed, which includes doctors from three federal clinics, who decide whether to transfer the child from one drug to another or not.

- When a child has appropriate appointments, the region forms a package of documents and sends them to the fund. The Foundation checks for completeness, they are examined by experts - medical specialists in the disease, after which the application is submitted for consideration by the Foundation's expert council. Already the expert council considers the documentation package and makes the final decision on approval or non-approval of applications. Just today, four applications for Zolgensma, including one for a child with replacement therapy as prescribed by a doctor, were approved. Therefore, the question lies in the plane of medical opinion. - says Olga Germanenko.

Alexander Kurmyshkin says that the Fund has not developed a procedure that is clear to all doctors, but everyone is insured locally, no one wants problems - as in the story with Alisa:

- It is possible to receive "Zolgensma" from the Foundation. This requires the appointment of doctors. But nobody does. They write that she does not need. As a trusted doctor, I am not allowed to discuss. Practically taking advantage of the closed system of discussions, they do it behind the scenes, without any reason, without explanation, give us a piece of paper and refuse to help. I think there is a certain state message. I have been contacted by the parents of 15 children, except for Alisa, who can already do Zolgensma, but who the Foundation refuses. The Fund refuses due to the fact that doctors do not prescribe. This is a very comfortable position. The fund is white, the doctors are also out of business. We are not allowed to discuss. The vicious circle of good...

The trustees of Alexander Kurmyshkin have once again asked the Foundation to include him in the Board of Trustees of the Foundation, because he is a person who is trusted by the parent community, it is not in vain that he represents 450 patients. But the Fund is deaf to these requests. As the doctor bitterly notes, there are only “ours” and “ours”, and there is no one who would represent not the interests of the budget, but the patients themselves. By the way, not a single transcript of the discussions, not a single report was published either.

Academician Alexander Rumyantsev , who heads the Board of Trustees of the Circle of Kindness Foundation, believes that work on the SMA has been established. And although the diagnosis is sometimes established with delay, work is underway, more than a thousand patients have been collected:

- It was now decided last Friday that the state will fund neonatal screening for SMA, which will enable patients to be diagnosed before clinical manifestations appear. And these patients will be able to receive the Zolgensma gene drug, which will give a very good effect. Objectively, this screening is already being carried out in 8 territories. This will gradually develop.

It is not clear what to do now with those patients who are already being treated. What to do with Alisa Kochetkova, for whom the whole world has already collected money for Zolgensma, in order, according to doctors, to stabilize her situation? Even if there is money, it is not known whether the medicine can be obtained: the drug manufacturer Novartis refuses to sell the drug, because the same councils that have already rejected the girl do not confirm this prescription.

Alexander Kurmyshkin has already asked for three consultations in a row, at which decisions were made about Alisa and not only about her, so that he could be invited, and he could hear the arguments and ask questions:

- They don't hear me. There were three consultations, I wrote to the prosecutor's office. They just refuse to do it. After all, it is quite obvious that if doctors are asked questions, they will not be able to answer them. They have turned from doctors into bureaucrats, write replies. This situation strains us with the fact that even if people have an opinion, perhaps we are wrong, it is now so authoritarian, so not subject to discussion, that immediately there is a doubt that this opinion is aimed solely at supporting financial interests, selling their drugs.

For the parents of Alisa Kochetkova, it will be enough if their daughter receives a drug that will help her breathe freely. Actually, it was for this that the “Circle of Goodness” was created. There is enough money in it, good will too. It remains to overcome the bureaucrats. It's never too late.