The International Week of Cystic Fibrosis, the most common genetic disease in the world, has begun. From which it is still possible to die painfully before reaching adulthood, although effective therapy already exists. Just not for everyone.
The average life expectancy of patients with cystic fibrosis in Russia is 25-27 years. There are about a thousand adults with such a diagnosis in our country, and three times as many children. In Europe, the average life expectancy of patients is 45-50 years, and adults among all diagnosed patients with cystic fibrosis (Cystic Fibrosissounds in English) — more than half. Why in Russia not all children with cystic fibrosis become adults and why only a few of them get a chance to live a full life – read the material from the charity foundation “AIF. A kind heart”, providing support to seriously ill children and adults with this disease.
Cystic fibrosis is a rare hereditary disease. In Russia, about four thousand people suffer from it, most of them are children and teenagers under the age of 18. All of them have been living with cystic fibrosis since birth. And the worst thing for anyone with this diagnosis is to catch an infection. In a family with cystic fibrosis, the words “Pseudomonas aeruginosa” and “sepation” are quickly learned. If you do not react quickly, then it is the second (Burkholderia cepacia is a complex of bacteria resistant to various antibiotics and especially dangerous for patients with cystic fibrosis) it can disable the body and lead to death in a few days, and sometimes hours. This is due to systemic organ damage – first of all, those that produce mucus suffer: lungs, pancreas, liver and intestines. Due to cystic fibrosis, their secretions become too thick and form clusters that are easily infected and prevent the patient from breathing and digesting food.
Cystic fibrosis cannot be cured. And every day you need to restrain the symptoms: take antibiotics, mucolytics, enzymes for digesting food, hormones, vitamins and other drugs. Every day — endless hours of therapy: coughers, inhalations, vibrojackets, kinesiotherapy, postural drainage, percussion, breathing exercises. Morning, afternoon, evening, without breaks, weekends and vacations. From 4 to 8 hours a day to breathe, to eat, to live.
In addition, there is a so-called “targeted” therapy: together with medications that alleviate the symptoms of cystic fibrosis, “genetic correctors” are taken that fight the cause of the disease, that is, with a specific gene defect in the patient’s body.
“Now this is the most promising and promising therapy that exists in the world,” says Stanislav Aleksandrovich Krasovsky, Candidate of Medical Sciences, Senior Researcher at the Pulmonology Research Institute. Unfortunately, the prices of drugs “targeted” can reach twenty to thirty million rubles a year, and only a few manage to get medicines in Russia.
Leila Morozova succeeded. It took her a year and a half to achieve the initial purchase of a targeted therapy drug for her children. There are two of them – a boy and a girl, both sick with cystic fibrosis. Senior Miroslav was diagnosed only at the age of three (they did not notice a breakdown in the genes immediately), after the youngest Ulyana cystic fibrosis was confirmed immediately after birth. The sister actually saved her brother. And since then, not a single day of their lives has passed without each other. And without symptomatic therapy: antibacterial inhalations, vitamins, antibiotics and other drugs that prevent the appearance of mucus congestion, inflammation and infections.
Leila calls herself the “mother of Heroes” and says that she and her children were lucky twice. For the first time — with the safety of the pancreas, which function so well that they save the World and the Hive from having to take tons of enzymes. The second — with the receipt of the «target ».
Leila Morozova with children. Photo: From the family archive
“Targeted drugs in Russia are now received by units, and they have almost not reached the regions,” says Stanislav Krasovsky. The Morozovs live in Kronstadt, and in order to draw up endless documents for obtaining a target, they had to regularly break into St. Petersburg. Almost a year of constant trips, official receptions and letters did not yield any results. Permission was repeatedly refused, citing a lack of necessary papers. Because ofthere were almost no bureaucratic hindrances. «It looked like “bring something, I don’t know what”. There was a feeling that an ordinary parent without connections and money would not be able to break through the wall of endless “but” healthcare systems,” recalls Leila. The Morozov family allegedly received permission for the initial purchase of targeted drugs as a gift for the New Year after another consultation in St. Petersburg, right before the New Year holidays.
In May, the medicines were delivered to the pharmacy. Since then, Miroslav and Ulyana have been taking “Kalideco”, a drug of targeted therapy against cystic fibrosis that is not registered in Russia. It should be drunk at strictly defined hours, but this will not surprise children — along with «Kalideco » in their daily routine there are several antibacterialinhalations and antibiotics, which should also not be missed. With the advent of a new drug, their routine has hardly changed, but there is hope for the “future of ordinary people”, as Leila says. “People who won’t suffocate and die in 20-25 years if they have the opportunity to get targeted drugs.”
Targeted drugs against cystic fibrosis will last Miroslav and Ulyana for another four months. Further — complete uncertainty. “In our country, it is often more difficult to achieve the repeated purchase of medicines than the primary one. There is no order to receive them,” says Leila. This means that we will have to carry again “I don’t know what”, pounding the thresholds of state institutions and collecting tons of papers. Because it is also impossible to abruptly cancel targeted therapy, because they decided not to give out the medicine anymore, — there may be a deterioration. It’s almost the same as if diabeticsleft without insulin, and asthmatics – without inhalers. So the Morozovs don’t know how many more roller coasters they have ahead of them with permits, purchases and refusals. “A family with a sick person, in principle, cannot afford a state of endless war. Of course, it’s exhausting. We get tired of fighting, constantly “knocking out” something and proving”,” says Leila. Despite this, she is ready to go this way any number of times to receive treatment that works. And to find hope to live to the moment when she will tell her grandchildren all this incredible story.
“The state hardly buys drugs that are not registered. For example, Kalideco, Simdeco and Trikafta, despite their proven effectiveness, are still bypassing official purchases can only be found on the black market,” says Stanislav Krasovsky. In Russia, of the four existing targeted drugs against cystic fibrosis, one Orcambi has been registered. It acts on a limited number of patients with strictly defined genetic mutations.
The first purchase of Orkambi for patients with cystic fibrosis in the Volgograd region will take place in January 2022. She is very much waiting for Elena Ovchinnikova, ward of the charity foundation “AIF. A kind heart”, providing support to patients with cystic fibrosis and their relatives. With his help, Elena managed to raise the necessary amount for a year’s supply of basic therapy drugs for her young son with cystic fibrosis. Soon he will turn two, and he will finally get on the lists of those in need of Orcambi. According to the Russian state program “14 high-costnosology », free genetic correctors rely on all children from two to eighteen years old with genetic mutations. But only with those mutations that are suitable for funding by this program. Almost two-year-old Ignatius has just such a thing. Now he has every chance to start targeted therapy from the state fund “Circle of Good” and stop the progression of the disease.
Adult support is not included in the program.
«These are the most terrible “scissors ” that can only be. Because children will be able to start this therapy, get a significant effect, gain faith in the future, and at exactly 18 years old lose the opportunity to continue treatment,” says Stanislav Krasovsky.
In the Volgograd region, only one adult patient with cystic fibrosis was able to get the right to targeted therapy in court. The rest are still forced to fight even for taking basic therapy drugs. It is especially difficult with expensive inhaled antibiotics – they are often not given even to children. And if they do, they try to replace them with more affordable analogues. So, another ward of the foundation “AIF. Kind heart», nine-year-old Vike Nagornyachenko from Volgograd, contrary to medical recommendations, Indian antibacterial inhalations were purchased instead of European Colistin in order to save the regional budget. But the replacement only worsened the girl’s condition: the side effects and toxic properties of the generic quickly made themselves felt. “The Ministry of Health always has a reason to refuse the necessary medicines, they thus cut costs and save the budget,” says Tatiana Nagornyachenko, whose daughter is getting worse from such “treatment”.
In May, Vika Nagornyachenko was finally given a medical appointment for targeted therapy with another unregistered but effective drug in Russia – Simdeco. Permission was given in May, now it’s November. And the family is still trying to get at least the initial purchase of medicine from the local Health Committee. In response to official letters — stamped refusals without explanation.
“Endless unsubscribing is a huge stress for parents. To withstand this, you need a strong core inside,” says Vicky’s mom. The most terrible thing for their family is the unknown. Will they give permission to purchase the drug (at least a year and a half after the medical appointment), as it was with Miroslav and Ulyana Morozov— unclear. It is still unclear whether the state fund “Circle of Good”, which is obliged to provide “target” for children with cystic fibrosis, will undertake to support the family. “We are still living only with empty promises,” says Tatiana Nagornyachenko. They do not have to hope for receiving targeted drugs in the near future.
One magic pill for cystic fibrosis does not exist yet. Even advanced targeted therapy patients need to take all their lives, and, alas, it is not suitable for everyone. Different types of mutations, different organisms, different reactions to treatment. But right now, new types of drugs are being developed, new components are being tested, gene mutations are being studied, and new breakthroughs are being made every day. And it is already clear that only with complex treatment of cystic fibrosis (target + symptomatic treatment) there is a chance to stop the development of the disease for a long time, stop being afraid of every infection and, eventually, live to meet your children and grandchildren.
In some countries, all treatment for cystic fibrosis is paid by the state by default, and families do not need to “knock out” medicines, save for inhalers, collect money for vibration vests. There is no need to consult with lawyers every time another refusal in life-saving therapy is received. These are exactly the countries wherethere is practically no child mortality due to cystic fibrosis, and adult mortality is steadily decreasing. Russia also has its own achievements: we have excellently learned how to save regional budgets and bureaucratic resources. It remains to learn to appreciate the lives of children and the time of their parents. And that and the other in patients with cystic fibrosis is not so much.