"The news that everyone was waiting for": how the Circle of Kindness foundation will help children with cystic fibrosis

The Circle of Kindness made a decision to include in the list of diseases, the treatment of which is financed from the fund, cystic fibrosis - a serious hereditary disease, which is accompanied by dysfunction of the excretory glands.

According to the Ministry of Health of the Russian Federation, about 4 thousand people in the country have such a diagnosis, three quarters of them are children: patients rarely live to be 25 years old.

People with cystic fibrosis are forced to take antibiotics, mucolytics, and enzymes on a daily basis as supportive therapy.

In addition, there is the so-called targeted therapy: special medications that correct the defective protein responsible for the development of the disease.

The Fund will purchase two targeted drugs: Orcambi (registered in the Russian Federation) and Trikafta, both manufactured by Vertex Pharmaceuticals.

According to the head of the "Circle of Kindness" Alexander Tkachenko, the program of assistance includes the most severe forms of cystic fibrosis.

“According to the criteria approved by the expert council, about 400 children will receive targeted therapy, which will radically increase the quality and duration of their life.

At least 4.5 billion rubles will be allocated annually to provide an extremely expensive targeted drug through the fund, "said the head of the Circle of Kindness.

"Unexpected but long awaited"

Parents of children with cystic fibrosis called the fund's decision “the news everyone was waiting for,” but hope to further expand the list of recipients. “If this is just the beginning, that is, the first purchases for the coming months and the most difficult guys have been selected - this is good, this is their chance to survive. But correctors are needed by all patients with cystic fibrosis, based on the diagnosis, and not on some criteria, ”says Marina Rybalkina from Moscow, mother of nine-year-old Ivan.

According to her, this disease is severe and progressive, the patient can be conditionally fine, and after a month - already in intensive care and with a serious drop in lung function, oxygen saturation, and so on. As for the choice of drugs, Rybalkina says that Orcambi is the weakest of the correctors working for the double 508 mutation (Del508F is the most common cystic fibrosis mutation in the world), and Trikafta is the strongest. “The first drug is approved from the age of two, the second from the age of 12, but in a month, Trikafta will be officially approved for the age of six and older,” she added.

A resident of Tyumen, Alexander Pridatko, calls the fund's decision "unexpected, but long-awaited."

He is also worried that so far it is planned to purchase medicines only for 400 people: “It turns out that the most difficult patients will be helped.

But the rest also need drugs, because they stop the course of the disease, and do not restore the already existing irreversible processes in the body. "

Alexander's son Ilya is a year old.

The supplies and equipment necessary for the treatment of the child have to be purchased by the Prydatko family at their own expense.

“Since last autumn, we have spent 40 thousand on inhalers, nebulizers and breathing simulators alone. In our region, they do not provide us with suitable inhalation equipment, as, for example, in Moscow or St. Petersburg,” says Alexander. - Another item of expense, for example, is the quarterly dispatch of analyzes to laboratories, where the highest quality bacterial cultures are done. In our city, the results are often inaccurate, and an overlooked bacterial infection can be deadly. So the parents of children with cystic fibrosis send the test tubes to the reference laboratories in Samara and Moscow. "

When Ilya turns two, his parents hope to be included in the list of children that Orcambi will provide.

“Medicines are very expensive.

The Orcambi course costs about 15 million rubles for a year.

And in the case of Orcambi and in the case of Trikafta, the medicine must be taken continuously.

An analogue of Zolgensma for children with SMA, which is enough to be used once, has not yet been invented for cystic fibrosis, ”he says.

"The medicine is needed now"

15-year-old Vika Anufrieva from Yaroslavl has already been included in the list of those in need of medicine from the Circle of Kindness fund, her mother Anna told RT.

“The doctor said that we are on the list of the Circle of Kindness.

But we have not seen any documents, there are no details, ”she complains.

According to Anna Anufrieva, now her daughter's condition has worsened and she literally "does not get out" from hospitals.

In winter, the girl underwent lung surgery, and now she often has to do IVs.

As RT previously wrote, the woman is suing the regional Department of Health for providing medicine for Vika.

In 2019, the medical council prescribed the drug Simdeco, which is necessary for the health reasons.

However, officials refused to provide a medicine not registered in Russia, and Anufrieva had to go to court.

The trial, in which Anufrieva is trying to prove the need to use the drug, is still suspended.

According to the woman, thanks to the proceedings, it was possible to find out that the drug "Simdeko", which the family purchased at their own expense as prescribed by doctors, does not help Vika in full.

“We underwent additional analysis and identified an additional mutation.

After that, the doctors said that only Trikafta was suitable for us.

But in order to prove this in court, the conclusion of a medical council is necessary, which they do not want to conduct.

Therefore, the matter is not moving.

We were told that no one would give us the Trikafta drug, ”Anufrieva says.

Now the companies are importing the drug "Kaftrio" and the drug "Kalideko", which, when used together, are used as an analogue of "Trikafta", Vika's mother continues: “If we knew about this, we would buy" Trikafta "right away and treat the child normally.

The annual rate of this drug costs $ 435 thousand. And the annual rate of the Scandinavian analogue with recalculation to the Russian ruble will cost 26-28 million.

We need to drink this for years to live. "

Anna Anufrieva hopes that the drug issue will be resolved quickly.

"Treat immediately after birth"

The head of the regional organization of patients with cystic fibrosis "Little Muk" Natalya Matveeva notes that while patients have no guarantee that they will receive the medicine more than once.

“Besides, the scheme of selection and provision of each medicine is not clear to me.

It turns out that some part of the children will be left without help.

The list will clearly include Moscow, St. Petersburg and the Moscow region, perhaps Novosibirsk, ”Matveeva said. 

According to Martveeva, the regions will now have to draw up applications in order to form a list of children in need of help: “But our departments are not even ready for this.

For example, in Kostroma, patients with cystic fibrosis are not treated at all.

Even if they have an extremely difficult child, they will not be able to help him, because they do not even have specialists. "

In her opinion, patients in the most serious condition will be the first to receive medications.

Matveeva is concerned that the situation with disability may repeat itself, when the parents were faced with a choice - either to continue treating the child on their own, or to start his condition so that the state would provide the necessary medicine.

“The number of children in need of medicine decreases only in one case - they die. We intervene all the time at the last point, although it is necessary to treat immediately after birth, so that in the early stages we can take control of the situation and people can become full-fledged members of society, ”she summed up.