The fund to help children with rare diseases has not yet been created, but the purchase of drugs has already been completed

Julia Suntsova

During the New Year holidays, federal channels broadcast stories about the emerging hope for seriously ill children. Children with rare and serious illnesses who require expensive treatment, including children with spinal muscular atrophy (SMA), will be treated with taxes from wealthy Russians. The decree on the creation of a special fund was signed by Russian President Vladimir Putin. The money will start to be spent from this week, announcers from the screens said.

On January 5, Russian President Vladimir Putin signed a decree on the creation of the Circle of Kindness fund to support children with rare diseases. It is stated that the organization will be replenished from the proceeds from tax for individuals whose income exceeds 5 million rubles a year. According to preliminary estimates, this mechanism will make it possible to attract about 60 billion rubles to the budget annually. The area of responsibility of the fund, as reported, will include the treatment of about 30 diseases. The final list of nosologies has not yet been determined, but it has already been announced that patients with spinal muscular atrophy are definitely included in it.

Exactly from that moment on, large charitable foundations, NGOs have sharply reduced the fees for "Zolgensma" for "SMAiliks", and redirected resources to children with other severe diagnoses. This drug, meanwhile, needs to be administered to a child under two years of age. Regional ministries of health, and before that referred to the lack of money in regional budgets, now, with even greater confidence, are also sending parents to the "Circle of Kindness".

The new fund in Moscow is frozen at the registration stage. Nobody knows when it will start working in full force, and most importantly, when it will start providing children with drugs included in VED (vital and essential medicines).

“This is not a question for the Circle of Kindness, but more for those large funds that stopped collecting, despite the fact that they initially gave the families hope, an advance. It is completely incomprehensible why officials in the regions are denying drugs, if the court for obtaining [drugs] is won, they have no right to obstruct", - Anna Kudrya, assistant to the chairman of the Circle of Kindness Foundation, explained to Novye Izvestia.

The leader himself is the archpriest of the St. Petersburg diocese, the chairman of the OP commission (the Public Chamber commission) on charity and social work, Alexander Tkachenko, according to her, is completely occupied with solving organizational issues related to the registration of the foundation.

When asked about the timing of the provision of drugs to children with SMA, the assistant answers with uncertainty:

“Now the first goal is to create all the documents, the Charter as quickly as possible. I have no assessments, it is clear that this business should be launched as quickly as possible, because the price of the issue is children's lives".

Krasnodar, Stavropol, St. Petersburg, Moscow, Podolsk, Kemerovo - on Monday, relatives of children with spinal muscle therapy came out in these cities to the squares, to the buildings of city administrations and local ministries of health. Parents from different regions recorded more than five dozen appeals demanding to speed up the purchase of drugs by the new fund. Without supportive therapy, the condition of children worsens before our eyes, they end up in intensive care.

- Publicly on the First Channel announced that from January, families will be provided with drugs from the federal budget. Today is January 12, the fund has not been registered by the Ministry of Justice, the expert council has not been created, the list of drugs that will be provided to the fund is unknown. There is no website where you can turn for help. It takes time for the foundation to start working, and children with SMA need drugs urgently. Reception "Spinraza", for example, cannot be stopped. There is a concept of "loading dose", and if you are late with the planned injection, then all previous treatment rolls back, up to a lethal outcome. On the ground today, children are not extended maintenance therapy. In Cheboksary right now, I'm not afraid of this word, children who are left without drugs are dying", - Alexandra Frank, co-founder of the Star in the Palm ("Zvezda na ladoshke") charity movement, told Novye Izvestia.

Last year, the refusal of regional authorities to treat children with this orphan disease has already caused a big scandal. SMA patients require expensive drugs. “One injection of Spinraza costs 125,000 dollars, and only in the first year it will take 6, and then every four months, but for life. The drug "Zolgensma" has the advantage: it is administered once, but the price is cosmic, the drug is listed in the Guinness Book of Records as one of the most expensive in the world ($ 2.1 million per injection).

Parents of “smileys” are suing the local ministries of health for the issue of drugs, and most of them receive decisions in their favor, and with the mark “for immediate execution”. But the officials somehow explain themselves in the prosecutor's offices, talking about the priorities - they say, based on the budget, it is better to save 50 children with other rare diseases than one with SMA. The decisions of the courts are not enforced.

There is no state register of patients diagnosed with SMA in Russia. Since 2016, the SMA Families foundation has managed to collect data on 989 patients and 250-300 deaths. According to their own calculations, in 2020, only 129 patients were provided with treatment in the country.

On January 9, at a meeting with the President, Russian Deputy Prime Minister Tatyana Golikova said that 47 out of 60 billion rubles from the Circle of Kindness fund for helping children with rare diseases are planned to be spent on the purchase of medicines, the remaining amount - on the purchase of rehabilitation means, medical devices, etc. According to the Deputy Prime Minister, today only half of children with SMA undergo treatment with medication at the expense of the regions and charitable foundations:

“For us now, the most important thing is, first of all, to purchase medicines for a group of children who suffer from a disease already well known to all, which is called spinal muscular atrophy, since now some children are already receiving treatment, and treatment cannot be interrupted so as not to worsen their condition. ...According to the operational data that we collected from the regions of the country, treatment has begun for 466 children. In the register that we currently have, there are 890 children with spinal muscular atrophy. Why am I paying attention to this particular disease? Because drugs are the only and very expensive”.

- noted Golikova.

Novye Izvestia talked with parents who took part in the pickets and recorded video messages demanding to speed up the procurement of medicines.

SAVELY BOYKO, Stavropol Territory, from Novoselytskoe spruce

Mom Anastasia says:

“Savely is 7 months old. From 3 months, as soon as we learned about the diagnosis, we immediately began to fight for Spinraza, but all this time it is as if we are communicating with emptiness. We have both the conclusion of the medical commission for receiving "Spinarza", and the won court for its extradition in the region (dated December 2, 2020), but the Ministry of Health appealed, and we still do not receive therapy.

The son still eats himself and can still hold his pens. But the legs are already atrophied, from 6 months we get into intensive care with attacks of suffocation.

The Ministry of Health, refusing to "Spinraz", appeals to the fact that a federal fund will be created. Various ways are invented on how to disengage. Appeals to the presidential administration and the Russian Ministry of Health are sent down to the region with a written order "to provide Spinraza immediately in connection with the doctors' conclusions." The regional Ministry of Health tells us that they have not received any instructions.

Delay is fatal. Spinal muscular atrophy is not just a loss of motor function. Without therapy, all the muscles of the body will inevitably atrophy, over time - the internal organs lose their functions. The heart is a muscle, muscles are responsible for the swallowing reflex and breathing, and muscles are responsible for the work of digestion. The last stages are resuscitation and children with catheters in the trachea, stomach. Coma. Without treatment, they rarely live up to two years. Time is our enemy".

MARUSIA AND DANIIL YATSENKO, Altai Territory, the city of Barnaul

The Yatsenko family in the Altai Territory has two children with SMA. The parents won the court for the Spinraza in June, but they only waited until November, and then with incredible efforts. The eldest son will soon turn 18, and the Circle of Kindness Foundation will not provide him with medicine.

Mother Lyudmila tells:

“Marusa will soon be three years old. The correct diagnosis could not be made to her for a year. "Zolgensmu" in Russia, if the parents manage to collect 150 million rubles, they put only up to two years. According to the European protocol, they can deliver later if the child's weight has not yet reached 13.5 kilograms. In terms of weight, we are already on the verge, but we are still collecting for Zolgensma, we have collected 3.3 million, 167.2 million rubles are left.

We sought to obtain Risdiplam under the pre-registration access program, that is, at the expense of the manufacturer. But our region did not take part in this program. As soon as Spinraza was registered in Russia in August 2019, we began to sue for its receipt. Both courts won in 2020 - June 4 at Marusa, June 17 at Daniel, with a court note: "for immediate execution." By law, they had to be provided with this drug and start treatment within a few days. But they received formal replies from the regional Ministry of Health - no money. They filed complaints with the Prosecutor's Office, the Investigative Committee, Roszdravnadzor, raised the media, and only after that, on November 16, they made the first injection from the loading dose.

From the age of 18, the son remains in the care of the region; the Circle of Kindness Foundation will not help adults. Daniel walked until adolescence, now he has lost the ability to move. But he breathes himself, his hands are not atrophied.

Marusya developed as a healthy child for up to a year. She began to walk at the support, but did not tear herself away from it. In a year, the disease began to manifest itself. During the last year we were fighting for the drug, there was a huge setback in development. The daughter stopped independently standing, walking, crawling, sitting down. The back is weak. One hand does not rise above the head. After three injections, the condition improves, but still cannot stand.

If we were diagnosed correctly and we would have immediately received Spinarza, I'm sure Marusya would have stood firmly on her feet. We have good predictions even now, but if time had not been lost, she could now be a full-fledged child.

What is the danger of missing the Spinarza reception? Every 4 months it is necessary to replenish this "fuel" for motor neurons. If the loading dose is reduced or eliminated, the condition worsens, and regression is even faster than in the pre-admission time. They interrupted the treatment - as if they had not started to heal. "

SASHA GOROBINSKY, Krasnodar.

Mom Yelena says:

“On December 8, 2020, the medical commission under the Ministry of Health of the Krasnodar Territory appointed us injections of Spinraza, but we never received the drug. There is no answer from the regional ministry of health, a notification from the federal ministry of health has come to redirect the appeal to the regional ministry of health. The polyclinic says that they sent an application for Spinraza to the Ministry of Health. Officials say verbally that we are not in the queue for purchase and that we have been transferred to the Circle of Kindness fund - there, they say, there are more chances that the drug will be purchased at all.

Sasha is now 3 months old. We learned about the diagnosis in one and a half. Now he does not move his arms and legs. Spends 8-12 hours a day on a device for non-invasive ventilation.

The medical assistance provided cannot stop the development of SMA. The shown expensive drugs are needed to activate the protein that prevents motor neurons from dying. And while there is no cure, these neurons die every day, and the child's condition worsens.

Over the holidays, Sasha began to breathe worse. Every day we sleep, we connect it to a breathing apparatus, which we have not done before. The nasolabial triangle turns blue.

Five families in Krasnodar went to picket the administration, because we do not know where else to knock. We just want to be heard. We are advised to go to court. But we do not have time for courts whose decisions are not enforced, as is now the case with parents everywhere. Yes, there are solutions in our favor. Yes, the Ministry of Health receives instructions for issuing Spinraza, fines are issued. But this paperwork does not solve our problems.

In the region and in the country, many children simply do not wait for the drug. They are waiting for him on probes in intensive care units, and the muscles responsible for digestion, heart, respiration, cannot cope, organs fail. How long do these kids have? They don't have it.

ZAKHAR RUKOSUYEV, Krasnoyarsk Territory, village Boguchany. "Spinraza" did not wait...

The family fought for a long time for the drug with the authorities of all levels, including the highest, more than once sent appeals to direct lines with the President. "Spinraza" reached the parents when the child had already died. Two criminal cases were initiated - on the death of a child and under Art. "Negligence". At the request of the prosecutor's office, the child's body was exhumed to double-check the cause of death.

Mom Svetlana says:

“There are no medicines in the provinces - this is only half the trouble. Even in the regional hospitals there are no qualified specialists who could correctly diagnose and continue to work with “smilies”. Experts do not know that they should not be given muscle relaxants, should not be put into artificial sleep. My son, without waiting for "Spinraza", died on January 30 last year. Cardiac arrest, cerebral edema. He was 2 years 8 months old. Blood was flowing from all the tubes. The ordered plasma came only when he was already cooling down in my arms.

What is the ideal path for a family with a child diagnosed with SMA? The neurologist sends him to a geneticist, he prescribes tests to confirm mutations in the SMN1 and SMN2 genes, after which an emergency injection of Spinraza is prescribed and a referral to the hospital is issued. After that, the medical and social examination issues a list of technical means of rehabilitation (coughs, verticalizers, wheelchairs), a list of centers for pre-rehabilitation, or sends them to additional operations. An individual rehabilitation program is being developed, in a word. All this maximum should take one month.

In fact, we begin to stumble at the very first steps.

The most popular excuse within the walls of our Ministry of Health: “But we don't know how to administer these drugs.” An excuse that has been added since September 2019, when Spinraza was registered in Russia: “And this disease is not included in the CHI. There are no beds on which to treat this, there are no salaries for doctors to treat this. " They are also sent to the Pension Fund - to confirm that the refusal of drug provision has not been written. All the time Zakhar was alive, for some reason, these internal health problems outweighed us, the parents.

We were diagnosed by the method of expensive trial and error and long-distance trips to Moscow only at 1 year and 3 months, they could not do this on the spot in the region and region.

When Spinraza was not yet registered in Russia, we were told that we could not help.

As soon as the drug was legalized, we were sent to the regional hospital for examination. To get Spinraza, you need to prove that the disease is developing, and the child's condition is deteriorating in a certain dynamics. As a result, the medical commission makes an appointment, but answers come from the hospital and the Ministry of Health: there is no money, although the law gives a deadline for the administration of the drug 7 days from the conclusion of the medical commission.

Two and a half months pass, Zakhar dies. If the medicine had been purchased, everything would have been different...

Two criminal cases were initiated. The investigation has been going on for a year - as for me, it is not in our interests. In March, exhumation was carried out - for what, it is not known. Apparently, there are battles between the Ministry of Health and the hospital. They are looking for the accused. But what do we do with that?..