“Good, but not enough”: what was the year 2020 for patients with spinal muscular atrophy

Spinal muscular atrophy is a fatal hereditary disease in which all muscles, including the respiratory one, gradually atrophy.

According to statistics, one child is born with this genetic pathology for every 6-10 thousand children.

At the same time, 68% of children diagnosed with SMA type I do not live to see their second birthday, and 82% die before they are four years old.

Now in the register of the "SMA Families" Foundation there are 1,070 people with SMA, of which 840 are children.

There are three medicines around the world that help with SMA.

Two of them - Spinraza and Evrisdi - are registered in Russia.

They inhibit the progress of the disease, but they must be taken all your life.

The third drug, Zolgensma, "repairs" the broken gene, so it is sufficient to apply it only once.

But while it is at the stage of registration in the Russian Federation. 

Out of range

All drugs for SMA are very expensive: only the first, so-called loading, course of Spinraza costs about 48 million rubles, and to get a single injection from Zolgensma, you need to pay about 150-160 million rubles ($ 2.125 million).

According to the regulatory framework of the Russian Federation, if a medical council comes to the conclusion that a drug is indicated for a patient, then the regional authorities, despite the price of the drug, must purchase it and provide it to the patient.

However, medicines are often only formally available.

“When I called Spinraza available, I meant that the medicine is available (after registration in the Russian Federation

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) for a doctor, he can prescribe it without organizational conclusions.

But it is not available (for the patient. 

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), because financial issues and patient routing have not yet been worked out, ”explained Svetlana Artemyeva, head of the neurological department of the N.I.

Yu.E.

Veltischeva, curator of the register of SMA patients in Russia, in an interview for RT journalist Maria Finoshina's film "You cannot kill to heal."

On January 30, 2020, Zakhar Rukosuev died in the Krasnoyarsk Territory.

The boy diagnosed with Type II SMA was two years and eight months old.

For several months, the Rukosuev family was sent from department to department, as a result, they were assigned hospitalization at the Moscow Research Institute of Pediatrics.

Veltishchev for June 2020, although federal experts said that the conclusion of regional doctors is sufficient for the appointment and purchase of Spinraza.

“I tell the doctors:“ For SMA, bronchitis, pneumonia are the norm.

Will we even survive the winter? "

The date of hospitalization was not changed, - says Zakhar's mother Svetlana Rukosueva.

- We wanted to go out with the children to single pickets.

We barely survived.

He died on the 30th, on Thursday, and on Monday they were supposed to leave. "

After Zakhar's death, his dad Nikita went to a solitary picket outside the regional administration building, and two days later - Svetlana herself.

On February 13, the Main Investigation Department of the Investigative Committee of the Russian Federation for the Krasnoyarsk Territory and the Republic of Khakassia opened two criminal cases on the death of Zakhar Rukosuev under Art.

109 of the Criminal Code of the Russian Federation ("Causing death by negligence") and Art.

293 of the Criminal Code of the Russian Federation ("Negligence").

Older brother Zakhara Dobrynya, who also has SMA, only after that received Spinraza, which his family had been seeking for several months.

Four-year-old Yana Hasanova from the Moscow region did not receive the necessary medicine either.

In January 2020, the parents brought their daughter, who was suffering from type I SMA, to the Pediatric Research Institute of Pediatrics in order to receive confirmation of the Spinraza's recommendation.

With this document, it would already be possible to go to the council at the place of residence.

“And there the doctor said to my face:“ Do you understand that your child will never walk?

She will not live, or rather, it will not be life at all, sheer agony. "

To be honest, at that moment I wanted to throw it out the window.

After all, this person gave us approval to receive Spinraza, and then there should have been a commission in our region, ”recalls Yana's father Andrei Hasanov.

He took the documents to the clinic, from there they sent them to the regional Ministry of Health.

But Yana did not have time to get the medicine.

In early March, she had a seizure, and they could not save her: the intensive care doctor told her parents that he did not know what to do with such patients.

Courts and fees

According to Olga Germanenko, head of the “Family of SMA” fund, 10 thousand people have received treatment with “Spinraza” all over the world.

In Russia, as of mid-December, 209 people started or continued injections of this drug, eight of them are adults.

“The indicator is good, but insufficient,” she says.

At the same time, according to Olga Germanenko, it was in 2020 that some families of SMA patients faced a delay in the process of prescribing the drug, including through the courts.

Among the arguments of the regional authorities - the uncertainty of the sources and procedure for financing purchases, the absence of "Spinraza" in the list of vital and important medicines (VED), as well as low effectiveness of therapy.

“Now in Cheboksary six children received the first injections of Spinraza, and it is allegedly ineffective for all of them, therefore, they are not entitled to the next injections.

Although the effect of therapy should be assessed six months or a year after the first course, ”says the head of the“ SMA Families ”foundation.

- Perhaps the medicine really does not have the desired effect for some patients, but so that six people at once and only in one region?

Strange coincidence".

On November 24, 2020, Spinraza was added to the VED list.

Now the state can control the cost of drugs on the list, and the regional ministries of health have lost the ability to refuse to provide an expensive drug on the pretext that it is not on the list.

In addition, the manufacturer of Spinraza expressed its readiness to reduce its price by 25%, thus, every fourth patient will be able to be treated due to this savings.

Also, on the basis of the list of vital and essential drugs, so-called territorial programs of medical care are formed, which means that it will be easier for the regions to set the appropriate budget.

Two days after Spinraza was included in the list of essential drugs, another important event for all patients with SMA took place: the drug Evrisdi was registered in Russia.

“If Spinraza needs to be injected into the spinal cord, then Evrisdi must be taken orally, so this therapy is suitable for patients with panic attacks or severe scoliosis who were previously deprived of treatment,” says Olga Germanenko.

In addition, the appearance of a second registered drug in the future may further reduce prices on the market.

Registration in Russia of the most expensive drug for SMA, Zolgensma, is expected in 2021.

Until this happens, the families of the patients are either raising money for treatment privately (individual fees have even been closed), or are suing for the right to receive therapy at the expense of the state.

The peculiarity of "Zolgensma" is that, according to the instructions, the drug must be used before the child turns two years old, while the therapy with "Spinraza" and "Eurysdi" can be started at any age.

 Relying on this very reason, the court refused to grant Zolgensma to Kostya Gepalov from St. Petersburg, who turned two in September.

However, in the summer, experts in the EU, and with them American doctors, came to the conclusion that the criterion of the child's weight is more important than his age.

The Gepalov family has filed a second lawsuit with new documents and is awaiting a decision.

"Adults are out of work"

In the summer of 2020, Russian President Vladimir Putin instructed to create a fund to support children with severe life-threatening and chronic, including rare (orphan) diseases.

It will be financed by raising personal income tax up to 15% for those whose income is more than 5 million rubles a year, as well as from private donations.

According to the draft resolution of the government of the Russian Federation, in 2021 a subsidy of 60 billion rubles will be allocated to the fund.

This will provide assistance to 25 thousand patients.

The fund will help children with 30 diseases and finance the purchase of more than 40 drugs.

The list of diseases includes SMA: it is planned to purchase all three drugs (Spinraza, Evrisdi, Zolgensma) for 890 children a year with a total cost of 23 billion rubles.

In this case, the treatment can be carried out both in Russia and abroad.

The criteria for selecting diseases and categories of children will be developed by an expert council, and the board of trustees will approve the budget, the list of purchased drugs and medical products, and will also monitor the activities of the fund.

According to the "Pharmaceutical Bulletin", the Archpriest of the St. Petersburg Diocese, Chairman of the Public Chamber Commission on Charity and Social Work and founder of the non-profit institution "Children's Hospice" Alexander Tkachenko should become the chairman of the board.

Olga Germanenko calls the creation of the foundation “an unprecedented solution,” but notes that a number of problems have not yet been overcome: “An excellent solution with a foundation and a children's cohort at the same time splits the community into groups.

Adult patients - and there are more than 200 of them in our registry - seem to be out of work. "

In addition, it is still not clear from what moment the fund itself will start working, when the funds from tax increases and the purchase of drugs begin to flow, says the head of the SMA Families fund: “The most important thing is that new patients will appear who will only be diagnosed.

It is not yet very clear whether any stock will be made based on them. "

Interest and awareness of SMA has begun to grow in Russia in 2020, she said, which may prompt couples to do genetic tests before or during pregnancy.

“They begin to discuss our statements at different platforms, including those where decisions are made,” says Olga Germanenko.

“And we hope that next year will bring us at least pilot regional programs for SMA testing during pregnancy or neonatal screening.

This will allow early detection of the disease and start treatment even before the first symptoms appear.

Then children - carriers of the "broken" gene will grow up to be no different from other children. "