International Cystic Fibrosis Week has begun & mdash; the most common genetic disease & nbsp; in the world. From which you can still painfully die before reaching adulthood, although effective therapy already exists. Just not for everyone.
The average life expectancy of patients with cystic fibrosis in Russia & mdash; 25-27 years old. There are about a thousand adults with this diagnosis in our country, children & mdash; three times more. In Europe, the average life expectancy of patients is 45-50 years, and adults among all diagnosed patients with cystic fibrosis (Cystic Fibrosis – this is how the diagnosis sounds in English) – & mdash; more than a half. Why in Russia, not all children with cystic fibrosis become adults and why only a few of them have a chance for a full life & mdash; read in the material from the charitable foundation “ AiF. Kind Heart '', providing support to seriously ill children and adults with this disease. & Nbsp;
Cystic fibrosis & mdash; rare hereditary disease. In Russia, about four thousand people are ill with it, most of them & mdash; children and adolescents under 18 years of age. All of them have been living with cystic fibrosis since birth. And the worst thing for any person with this diagnosis & mdash; catch the infection. A family with cystic fibrosis quickly learns the words Pseudomonas aeruginosa. and 'separation'. If you do not react quickly, then it is the second (Burkholderia cepacia & mdash; a complex of bacteria resistant to various antibiotics and especially dangerous for patients with cystic fibrosis) can incapacitate the body and lead to death in a few days, and sometimes hours. This is due to systemic damage to organs & mdash; those that produce mucus are primarily affected: the lungs, pancreas, liver and intestines. Because of cystic fibrosis, the secretion secreted by them becomes too thick and forms clusters that easily become infected and prevent the patient from breathing and absorbing food. & Nbsp;
There is no cure for cystic fibrosis. And every day you need to control the symptoms: take antibiotics, mucolytics, enzymes for digesting food, hormones, vitamins and other drugs. Every day & mdash; endless hours of therapy: coughs, inhalations, vibrating vests, kinesiotherapy, postural drainage, percussion, breathing exercises. In the morning, in the afternoon, in the evening, without breaks, weekends and vacations. 4 to 8 hours a day & mdash; to breathe, to eat, to live. & nbsp;
In addition, there is the so-called “ targeted '' therapy: along with drugs 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. & nbsp;
“ This is the most promising and promising now therapy of those that exist in the world '', & mdash; says Stanislav Aleksandrovich Krasovsky, Candidate of Medical Sciences, Senior Researcher at the Research Institute of Pulmonology . Unfortunately, the prices for drugs “ target '' 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 secure the initial purchase of a targeted therapy drug for her children. There are two of them & mdash; boy and girl, both have cystic fibrosis. Senior Miroslav was diagnosed only at the age of three (they did not notice a breakdown in the genes right away), after the youngest Ulyana had cystic fibrosis immediately after birth. The sister actually saved her brother. And since then, not a single day of their lives passes without each other. And without symptomatic therapy: antibacterial inhalations, vitamins, antibiotics and other drugs that prevent the appearance of mucus congestion, inflammation and infections. & Nbsp;
Leila calls herself the 'Mother of Heroes' and says that they were lucky with children twice. First time & mdash; with the safety of the pancreas, which function so well that they save Mira and Ulyu from the need to take tons of enzymes. The second & mdash; with the receipt of the 'target'. & nbsp;
Leila Morozova with children. Photo: From the family archive
“ Targeted drugs in Russia are now receiving only a few, and they almost did not reach the regions, '' & mdash; says Stanislav Krasovsky. The Morozovs & nbsp; live in Kronstadt, and in order to draw up endless documents for obtaining a “ target '', they had to regularly go to St. Petersburg. Almost a year of constant travel, official receptions and letters did not produce any results & mdash; permission was denied over and over again, citing a lack of necessary papers. Due to bureaucratic hindrances, the case hardly moved forward. “It looked like“ bring that, 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 & ldquo; but & rdquo; health systems '', & mdash; recalls Leila. The Morozov family allegedly received permission for the primary purchase of targeted drugs as a “ gift '' for New Year & mdash; after the next consultation in St. Petersburg, right before the New Year holidays. & nbsp;
In May, the medicines arrived at the pharmacy. Since then, Miroslav and Ulyana have been taking Kalideko & mdash; not registered in Russia drug targeted therapy against cystic fibrosis. It needs to be drunk at strictly defined hours, but you won't surprise children with this & mdash; together with Kalideko in their daily routine there are several antibacterial inhalations and antibiotic doses, which should also not be missed. Their routine has hardly changed with the new drug, but there is hope for the “ future of ordinary people, '' as Leila says. “ People who will not suffocate and die at the age of 20-25, if they have the & nbsp; opportunity to receive targeted drugs. ''
Targeted drugs against cystic fibrosis will be enough for Miroslav and Ulyana for another four months. Further & mdash; complete uncertainty. “ In our country, it is often more difficult to achieve repeated purchases of medicines than primary purchases. There is no order in which to receive them '', & mdash; Leila asserts. This means that you will have to carry the “ I don't know what '' again, knock the doorsteps of government offices and collect tons of papers. Because abruptly canceling targeted therapy, because it was decided not to dispense the drug anymore, it is also impossible & nbsp; & mdash; there may be deterioration. It is almost the same as if diabetic patients were left without insulin, and asthmatics – and mdash; without inhalers. So the Morozovs don't know how much more of these roller coasters with permits, purchases and waivers ahead of them. “ A family with a sick person, in principle, cannot afford a state of endless war. Of course, this is exhausting. We get tired of fighting, constantly knocking out something and prove & raquo ;, & mdash; says Leila. Regardless, she is willing to walk this path as many times as she wants to get treatment that works. And to find hope to live up to the moment when she will tell her grandchildren this whole incredible story. & Nbsp;
“ The state has a hard time purchasing drugs that are not registered. For example, Kalideko, Simdeko and Trikaftu, despite their proven effectiveness, can still be found bypassing official purchases only on the black market '', & mdash; says Stanislav Krasovsky. In Russia, out of four existing targeted drugs against cystic fibrosis, one is registered & mdash; Orcambi. It acts on a limited number of patients with strictly defined genetic mutations. & Nbsp;
The first purchase of Orcambi for cystic fibrosis patients in the Volgograd region will take place in January 2022. Elena Ovchinnikova, ward of the AiF charitable foundation. Kind Heart '', providing support to patients with cystic fibrosis and their families. With his help, Elena managed to collect the necessary amount for a year's supply of basic therapy drugs for her little son with cystic fibrosis. Soon he will be two years old, and he will finally be on the list of those in need of Orcambi. According to the Russian state program “ 14 High-Cost Nosologies, '' free genetic correctors are offered to all children from two to eighteen years old with genetic mutations. But & mdash; only with those mutations that are eligible for funding by this program. Almost two-year-old Ignatius is just like that. Now he has every chance to start targeted therapy from the state fund “ Circle of Kindness '' and stop the progression of the disease. & nbsp;
Provision of adults is not included in the program.
“These are the ugliest scissors there can 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 they will be deprived of the opportunity to continue treatment '', '' mdash; says Stanislav Krasovsky. & nbsp;
In the Volgograd Region, only one adult patient with cystic fibrosis was able to obtain the right to targeted therapy in court. The rest are still forced to fight even for taking basic therapy drugs. Especially difficult is the case with expensive inhaled antibiotics & mdash; 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 AiF. Kind heart '', nine-year-old Vika Nagornyachenko from Volgograd, contrary to medical recommendations, they bought Indian antibacterial inhalations instead of the European Colistin & mdash; 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, thus they cut costs and save the budget '' & mdash; says Tatiana Nagornyachenko , whose daughter from such “ treatment '' it's getting worse.
In May, Vika Nagornyachenko was finally given a medical prescription for targeted therapy with another unregistered in Russia, but effective drug & mdash; Simdeco. Permission was given in May, now & mdash; November. And the family is still trying to get at least an initial purchase of the medicine from the local Health Committee. In response to official letters & mdash; stamped refusals without explanation. & nbsp;
& laquo; Endless unsubscriptions & mdash; this is a huge stress for parents. To withstand this, you need a strong core inside. '' & mdash; says Vicki's mom. The worst thing for their family & mdash; it is unknown. Will they give permission to purchase the drug (at least a year and a half after the medical appointment) & mdash; as it was with Miroslav and Ulyana Morozov & mdash; unclear. Will the state fund “ Circle of Kindness '' undertake to support the family, which is obliged to provide a “ target '' children with cystic fibrosis & mdash; still unclear too. “ We still live only on empty promises '', & mdash; says Tatiana Nagornyachenko. In the near future, they do not have to hope to receive targeted drugs. & Nbsp;
The daily battles for the life and health of their children take away almost all of their energy and time from parents. And it seems to be obvious that every family with a seriously ill child definitely needs a competent legal and psychological & nbsp; support. But where to get it & mdash; free and timely if you live in a small town, in a distant region, far from big clinics, foundations and hotlines? And without such support, as the mother of our foundation's ward once said, “It’s like we fall into a black hole of despair every day, and the bottom is not visible.” That is why AiF. Kind heart '' offers his wards with cystic fibrosis help on all fronts of their endless struggle. The Route of Help program, created in conjunction with the Presidential Grants Fund, includes lawyers who walk with families all the way to get the drugs they need, and psychologists who pull parents out of this black hole. Legal support, patient communities, peer counseling & nbsp; & mdash; it is what helps parents to trust that they can handle it, that their child will receive treatment. That they will have time. So, supporting the work of the “ Help Route '' specialists with your donations, each of you gives whole weeks and months of a peaceful life not only to children with cystic fibrosis, but also to their parents.
One magic pill for cystic fibrosis does not yet exist. Even advanced targeted therapy patients need to take their whole life, and, alas, it is not suitable for everyone. Different types of mutations, different organisms, different responses to treatment. But right now, new types of drugs are being developed, new ingredients are being tested, gene mutations are being studied, and new breakthroughs are being made every day. And it is already clear that only complex treatment of cystic fibrosis (target + symptomatic treatment) has a chance to stop the development of the disease for a long time, stop being afraid of every infection and, in the end, live to see your children and grandchildren. & Nbsp;
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 up for inhalers, collect money for vibration vests. There is no need to consult with lawyers every time a new life-saving therapy is denied. These are the countries where there is practically no child mortality due to cystic fibrosis, and the adult mortality rate is steadily decreasing. Russia also has its own achievements: we have learned very well how to save regional budgets and bureaucratic resources. It remains to learn to value the lives of children and the time of their parents. And that & nbsp; and the other in patients with cystic fibrosis is not so much. & Nbsp;