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State assistance to CF patients. Life of children with cystic fibrosis

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What kind of disease is this? Why do some people get it and others don't? How modern medicine able to help patients with this disease and is it possible for a person with cystic fibrosis to survive?
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What is cystic fibrosis?

This disease is quite insidious. According to some doctors, for every one diagnosed case of the disease, there are ten (!) undiagnosed ones. It is difficult to say how true such statistics are. But diagnosing the disease is not easy. Although it is possible to detect the disease right after the baby is born. The earlier the disease is detected and the sooner treatment is started, the greater the child’s chances of living longer.

Which is held annually in many countries around the world to raise public awareness about this disease. With cystic fibrosis (CF), all the exocrine glands of the body are affected and begin to produce a very viscous secretion. Nowadays, they have learned to treat this genetic disease, and children who are diagnosed on time can live a long and almost normal life. Despite this, there are still many myths associated with cystic fibrosis. Doctor of Medical Sciences, Head of the Department of Pulmonology and Allergology of the Federal State Budgetary Institution “Scientific Center for Children's Health” Olga Simonova tells.

Myth 1: CF is a fatal disease

The definition of “fatal” was applied to this severe hereditary disease 15-20 years ago. Today, cystic fibrosis is one of the few genetically determined diseases that are successfully treated. The average life expectancy of those who suffer from this disease in Europe is 50 years, but this limit is moving further and further every year to 60-70 years.

Myth 2: CF is a disease of the white race

In a number of media publications, cystic fibrosis is positioned as an orphan (rare) disease, more typical for Europeans. This is an absolute myth. CF affects all over the world - in the United Arab Emirates, India, and Japan. It is generally accepted that there is no cystic fibrosis in African countries, but, according to experts, similar studies have not been carried out on the Dark Continent. Moreover, within the disease there are mutations that are characteristic of a particular nationality. They all have scientific genetic names, but doctors call them that way among themselves: Slavic mutation, Azerbaijani, Jewish, Chechen, etc.

Myth 3: There are fewer people with CF in Russia than in Europe

Russia, with its vast territory, varied climate zones and varying population densities, is difficult to assess. In the densely populated European and coastal parts of our country, in terms of the number of people who are carriers of the CF gene, we are close to European indicators - every fifteenth to twentieth person is a carrier. Another thing is that in Russia there are slightly more than 3,000 patients with a confirmed diagnosis registered, but, according to experts, in reality there are much more.

Myth 4: A person with CF can be identified by external signs.

Cystic fibrosis is insidious, the course of the disease and symptoms are individual for each patient and depend on the mutation and the degree of its influence on the manifestations of the disease. Currently, more than 2,300 variants of gene breakdown and 6 classes of mutations are known. With severe mutations of classes 1-3, the disease is more aggressive, painful, and has severe symptoms, more difficult to treat. With genetic defects of class 4-6, the disease is milder, easier to treat, and the prognosis is more favorable.

Classic symptoms are “drum” fingers with enlarged phalanges, nails in the shape of “hour glasses”, deformation of the chest, rapid breathing, wet - characteristic of severe forms of the disease. Patients with mild variants often have no mutations at all. external symptoms. Such children are no different from their peers.

Myth 5: Illness affects intellectual abilities

Worldwide research confirms that CF does not affect the functions of the central nervous system and psychological status. Most often, children with this diagnosis are bright, self-sufficient individuals with talents in various fields - literature, painting, music. Psychologists confirm that, compared to their peers, their giftedness in the population is 25% higher.

The reason for such development is quite understandable - these children are surrounded by increased attention, care, and guardianship. They live in an atmosphere of love and support, they do a lot of activities and communicate with the family.

Myth 6: People with CF should not exercise

Physical inactivity is incompatible with cystic fibrosis. One of the main problems with this disease is the accumulation of viscous secretions in the lungs, which must be removed daily. Therefore, earlier, before creation latest technologies treatment and active sports were practically the only way to save a person’s life. A special one was even developed for patients. breathing exercises- kinesitherapy, which “gets” sputum and cleanses the lungs every day.

Of course, all physical activity should be submaximal (about 75% of maximum), and not excessive. Daily intensive training builds a true sports character - persistent and purposeful, able to overcome any difficulties. Therefore, among patients with cystic fibrosis there are not just amateur athletes, but even Olympic champions.

Myth 7: Among Russian stars there are no people diagnosed with CF

In the West, a culture of attitude towards people with disabilities has long been developed, so it is not customary there to hide one’s illness. There are famous athletes, actors, musicians, and successful businessmen with cystic fibrosis. Despite the fact that last years The attitude towards patients in our country has changed for the better; people still do not like to talk about their diagnosis. But in families Russian celebrities There are also children with CF. The disease does not select people based on their social status.

Myth 8: People with CF are infertile

Among the variants of mutations, there are those that predetermine the inability to fertilize a man with CF. In girls, the ability to have children is determined by medical indications - whether she is capable of conception, pregnancy and childbirth due to health reasons. Modern achievements science allows us to tackle this complex issue professionally and plan the birth of healthy children in the family. In each case, everything needs to be decided individually - there are several options that are accepted in the family, depending on which spouse is sick.

Myth 9: It is difficult to be treated for CF in Russia

Thanks to a neonatal screening program, we can diagnose the disease at an early stage and take “preventive measures” to prevent its progression. Modern treatment involves daily drug support - drugs that dilute sputum, antibiotics, enzymes for the pancreas, hepatoprotectors, vitamins.

As part of the state program “7 nosologies”, the patient can receive one expensive medicine - the enzyme mucolytic dornase alfa. How will the patient acquire the rest? necessary medications, is decided by the local Ministry of Health. In Moscow and St. Petersburg the situation is relatively good. However, in the regions, patients have a significant share medicines you have to buy at your own expense.

Another problem is the transition of a patient from a pediatric registry to an adult registry. Thanks to good treatment, a teenager with CF is beautiful and feels good. And on this basis his disability is removed. The patient immediately loses benefits for drug provision, and, as a result, the disease again comes into its own.

Fortunately, in Lately There have been positive changes in the treatment of adults diagnosed with cystic fibrosis. There are doctors who can observe adult patients, and a new department for adults - 15 modern, equipped boxes in the Moscow city clinical hospital No. 57. (Previously there were only four such beds). Patients and experts hope this is just the beginning of a series of positive changes.

Comment on the article "9 myths about cystic fibrosis: is it possible to be treated in Russia"

ICD-10

E84 Cystic fibrosis

General information

– a severe congenital disease manifested by tissue damage and disruption of the secretory activity of the exocrine glands, as well as functional disorders, primarily of the respiratory and digestive systems.

Changes in cystic fibrosis affect the pancreas, liver, sweat, salivary glands, intestines, bronchopulmonary system. The disease is hereditary, with autosomal recessive inheritance (from both parents who are carriers of the mutant gene). Disturbances in organs with cystic fibrosis occur already in the intrauterine phase of development, and progressively increase with the patient’s age. The earlier cystic fibrosis manifests itself, the more severe the course of the disease, and the more serious its prognosis. Due to the chronic course pathological process, patients with cystic fibrosis need permanent treatment and specialist supervision.

Causes and mechanism of development of cystic fibrosis

In the development of cystic fibrosis, there are three main factors: damage to the exocrine glands, changes in the connective tissue, water and electrolyte disturbances. The cause of cystic fibrosis is a gene mutation, which disrupts the structure and function of the CFTR protein (cystic fibrosis transmembrane regulator), which is involved in water-electrolyte metabolism epithelium lining the bronchopulmonary system, pancreas, liver, gastrointestinal tract, reproductive system organs.

With cystic fibrosis, the physicochemical properties of the secretion of the exocrine glands (mucus, tear fluid, sweat) change: it becomes thick, with an increased content of electrolytes and protein, and is practically not evacuated from excretory ducts. The retention of viscous secretions in the ducts causes their expansion and the formation of small cysts, most notably in the bronchopulmonary and digestive systems.

Electrolyte disturbances are associated with high concentrations of calcium, sodium and chlorine in secretions. Stagnation of mucus leads to atrophy (drying) of glandular tissue and progressive fibrosis (gradual replacement of glandular tissue - connective tissue), early appearance of sclerotic changes in organs. The situation is complicated by the development of purulent inflammation in the event of secondary infection.

Damage to the bronchopulmonary system in cystic fibrosis occurs due to difficulty in sputum discharge (viscous mucus, dysfunction ciliated epithelium), development of mucostasis (stagnation of mucus) and chronic inflammation. Impaired patency of small bronchi and bronchioles underlies pathological changes in the respiratory system in cystic fibrosis. Bronchial glands with mucous-purulent contents, increasing in size, protrude and block the lumen of the bronchi. Saccular, cylindrical and “teardrop-shaped” bronchiectasis are formed, emphysematous areas of the lung are formed, with complete obstruction of the bronchi with sputum - zones of atelectasis, sclerotic changes in lung tissue (diffuse pneumosclerosis).

For cystic fibrosis pathological changes in the bronchi and lungs are complicated by the attachment bacterial infection (Staphylococcus aureus, Pseudomonas aeruginosa), abscess formation (lung abscess), development destructive changes. This is due to disturbances in the local immune system (decreased levels of antibodies, interferon, phagocytic activity, changes in the functional state of the bronchial epithelium).

In addition to the bronchopulmonary system, cystic fibrosis causes damage to the stomach, intestines, pancreas, and liver.

Clinical forms of cystic fibrosis

Cystic fibrosis is characterized by a variety of manifestations, which depend on the severity of changes in certain organs (exocrine glands), the presence of complications, and the age of the patient. The following forms of cystic fibrosis occur:

pulmonary (cystic fibrosis);
intestinal;
mixed (the respiratory organs and digestive tract are affected simultaneously);
meconium ileus;
atypical forms associated with isolated lesions of individual exocrine glands (cirrhotic, edematous-anemic), as well as erased forms.

The division of cystic fibrosis into forms is arbitrary, since with predominant damage to the respiratory tract, disorders of the digestive organs are also observed, and with intestinal form changes in the bronchopulmonary system develop.

The main risk factor in the development of cystic fibrosis is heredity (transmission of a defect in the CFTR protein - cystic fibrosis transmembrane regulator). The initial manifestations of cystic fibrosis are usually observed in the very early period of a child’s life: in 70% of cases, detection occurs in the first 2 years of life, at an older age it is much less common.

Pulmonary (respiratory) form of cystic fibrosis

The respiratory form of cystic fibrosis manifests itself in early age and is characterized by pale skin, lethargy, weakness, low weight gain with normal appetite, and frequent acute respiratory viral infections. Children have a constant paroxysmal, whooping cough with thick mucous-purulent sputum, repeated prolonged (always bilateral) pneumonia and bronchitis, with severe obstructive syndrome. Breathing is harsh, dry and moist rales are heard, and with bronchial obstruction - dry wheezing. There is a possibility of developing infection-related bronchial asthma.

Respiratory dysfunction can steadily progress, causing frequent exacerbations, an increase in hypoxia, symptoms of pulmonary (shortness of breath at rest, cyanosis) and heart failure (tachycardia, cor pulmonale, edema). There is a deformation of the chest (keeled, barrel-shaped or funnel-shaped), changes in the nails in the form of watch glasses and the terminal phalanges of the fingers in the shape of drumsticks. With a long course of cystic fibrosis in children, inflammation of the nasopharynx is detected: chronic sinusitis, tonsillitis, polyps and adenoids. In case of significant dysfunction external respiration there is a shift in acid-base balance towards acidosis.

If pulmonary symptoms are combined with extrapulmonary manifestations, then they speak of a mixed form of cystic fibrosis. It is characterized by a severe course, occurs more often than others, combines pulmonary and intestinal symptoms diseases. From the first days of life, severe repeated pneumonia and bronchitis of a protracted nature, constant cough, and indigestion are observed.

The criterion for the severity of cystic fibrosis is the nature and degree of damage to the respiratory tract. In connection with this criterion, cystic fibrosis has four stages of damage respiratory system:

Stage I characterized by inconsistent functional changes: dry cough without sputum, slight or moderate shortness of breath during exercise.
Stage II is associated with the development of chronic bronchitis and is manifested by a cough with sputum production, moderate shortness of breath, aggravated by exertion, deformation of the phalanges of the fingers, moist rales heard against the background of hard breathing.
Stage III is associated with the progression of lesions of the bronchopulmonary system and the development of complications (limited pneumosclerosis and diffuse pneumofibrosis, cysts, bronchiectasis, severe respiratory and heart failure of the right ventricular type (“cor pulmonale”).
IV stage characterized by severe cardiopulmonary failure, leading to death.

Complications of cystic fibrosis

Diagnosis of cystic fibrosis

A timely diagnosis of cystic fibrosis is very important in terms of prognosis for the life of a sick child. The pulmonary form of cystic fibrosis is differentiated from obstructive bronchitis, whooping cough, chronic pneumonia of other origins, bronchial asthma; intestinal form - with impaired intestinal absorption that occurs with celiac disease, enteropathy, intestinal dysbiosis, disaccharidase deficiency.

The diagnosis of cystic fibrosis involves:

Study of family and hereditary history, early signs diseases, clinical manifestations;
General blood and urine analysis;
Coprogram - examination of feces for the presence and content of fat, fiber, muscle fibers, starch (determines the degree of enzymatic disorders of the glands of the digestive tract);
Microbiological examination of sputum;
Bronchography (detects the presence of characteristic “drop-shaped” bronchiectasis, bronchial defects)
Bronchoscopy (detects the presence of thick and viscous sputum in the form of threads in the bronchi);
X-ray of the lungs (reveals infiltrative and sclerotic changes in the bronchi and lungs);
Spirometry (determines functional state lungs by measuring the volume and speed of exhaled air);
Sweat test - study of sweat electrolytes - the main and most informative analysis for cystic fibrosis (allows us to detect the high content of chlorine and sodium ions in the sweat of a patient with cystic fibrosis);
Molecular genetic testing (testing blood or DNA samples for the presence of mutations in the cystic fibrosis gene);
Prenatal diagnosis - examination of newborns for genetic and congenital diseases.

Treatment of cystic fibrosis

Since cystic fibrosis, as a hereditary disease, cannot be avoided, timely diagnosis and compensatory therapy are of paramount importance. The sooner adequate treatment for cystic fibrosis is started, the greater the chance of survival for a sick child.

Intensive therapy for cystic fibrosis is carried out for patients with respiratory failure II-III degrees, destruction of the lungs, decompensation of the “pulmonary heart”, hemoptysis. Surgical intervention shown when severe forms intestinal obstruction, suspected peritonitis, pulmonary hemorrhage.

Treatment of cystic fibrosis is mostly symptomatic, aimed at restoring the functions of the respiratory and gastrointestinal tract, and is carried out throughout the patient’s life. If the intestinal form of cystic fibrosis predominates, a diet high in proteins (meat, fish, cottage cheese, eggs) is prescribed, with a limitation of carbohydrates and fats (only easily digestible ones). Coarse fiber is excluded; in case of lactase deficiency, milk is excluded. It is always necessary to add salt to food, consume increased amounts of fluid (especially in the hot season), and take vitamins.

Replacement therapy for the intestinal form of cystic fibrosis includes taking drugs containing digestive enzymes: pancreatin, etc. (dosage depends on the severity of the lesion, is prescribed individually). The effectiveness of treatment is judged by the normalization of stool, the disappearance of pain, the absence of neutral fat in the stool, and the normalization of weight. To reduce the viscosity of digestive secretions and improve their outflow, acetylcysteine is prescribed.

Treatment of the pulmonary form of cystic fibrosis is aimed at reducing the thickness of sputum and restoring bronchial patency, eliminating the infectious and inflammatory process. Mucolytic agents (acetylcysteine) are prescribed in the form of aerosols or inhalations, sometimes inhalations with enzyme preparations(chymotrypsin, fibrinolysin) daily throughout life. In parallel with physical therapy, physical therapy, vibration chest massage, and positional (postural) drainage are used. WITH therapeutic purpose perform bronchoscopic sanitation bronchial tree using mucolytics (bronchoalveolar lavage).

In the presence of acute manifestations pneumonia, bronchitis are carried out antibacterial therapy. Metabolic drugs that improve myocardial nutrition are also used: cocarboxylase, potassium orotate, glucocorticoids, cardiac glycosides are used.

Patients with cystic fibrosis are subject to dispensary observation by a pulmonologist and a local therapist. Relatives or parents of the child are taught techniques vibration massage, rules of patient care. The issue of preventive vaccinations for children suffering from cystic fibrosis is decided individually.

Children with light forms cystic fibrosis get sanatorium treatment. It is better to exclude children with cystic fibrosis from staying in preschool institutions. The ability to attend school depends on the child’s condition, but he is given an additional day of rest during the school week, time for treatment and examination, and exemption from examination tests.

Forecast and prevention of cystic fibrosis

The prognosis for cystic fibrosis is extremely serious and is determined by the severity of the disease (especially pulmonary syndrome), time of appearance of the first symptoms, timeliness of diagnosis, adequacy of treatment. There is a large percentage of deaths (especially in sick children of the 1st year of life). The sooner cystic fibrosis is diagnosed in a child and targeted therapy is started, the more likely it is favorable course. In recent years average duration The lifespan of patients suffering from cystic fibrosis has increased and in developed countries is 40 years.

Of great importance are the issues of family planning, medical and genetic counseling of couples who have cystic fibrosis, and medical examination of patients with this serious illness.

On September 8, Russia celebrates International Cystic Fibrosis Day - genetic disease, in which, due to a mutation of a certain gene, stagnant mucus accumulates in the organs, and vital organs, in particular the lungs, suffer. This is the most common pathology among hereditary diseases. The establishment of this memorable day is another way to draw attention to the problems of diagnosis and treatment of this serious disease. About the problems of patients diagnosed with cystic fibrosis in Russia - our conversation with Maya Sonina, director charitable foundation“Oxygen”, which helps patients with cystic fibrosis.

Reference:

The word "cystic fibrosis" comes from the Latin words mucus - "mucus" and viscidus - "viscous". This means that the allocated different organs the secretions have too high density and viscosity, which is why the bronchopulmonary system, intestinal glands, liver, pancreas, sweat and salivary glands, etc. are affected. The lungs are especially affected, where chronic inflammatory processes. Their ventilation and blood supply are disrupted, causing painful cough and shortness of breath. The main cause of death in patients with cystic fibrosis is hypoxia and suffocation.

– Maya, as far as we know, in our country the situation of patients with cystic fibrosis is very different from that which exists abroad. What are the main problems of our fellow citizens suffering from this disease?

– This is a catastrophic lack of beds for patients over 18 years of age, and a constant shortage of expensive medicines. With children, the situation is still better, there are more specialists and beds, and the state is paying attention to children Special attention. Donors also love to help children. And adults, as they say, are in flight.

When sick children turn 18, they immediately become participants in a marathon for survival. Firstly, it is difficult for them to obtain disability, and this raises the threat that they will not have benefits for medications and treatment. Imagine, there are still only 4 beds available for adult patients with cystic fibrosis in the capital. There are certain regions, centers such as Yaroslavl, Samara, from where patients do not tend to go to Moscow or St. Petersburg, since everything is more or less stable there, everything is at hand, and good treatment and drug provision. The rest, unfortunately, are forced to wait in line. Therefore, skip treatment and routine diagnostics. And this is irreversible, it brings us closer to death. Therefore, the average life expectancy of patients with cystic fibrosis in our country is significantly less than abroad.

– So it turns out that in Russia a patient with cystic fibrosis has little chance of becoming an adult? How deadly is this disease? Can the patient adequate treatment live to old age?

– Uninitiated people, and even the state, judging by its approach, usually get the impression that cystic fibrosis affects children, and that such patients do not live to be of legal age. But in fact, cystic fibrosis is not fatal; a person with this disease requires lifelong treatment, but he can and should live, as, for example, people with asthma or diabetes live. Some popular media literally “drive into the brain” that patients with cystic fibrosis are suicide bombers, and it turns out that there is no point in helping them, because they will die anyway. However, children who reach their 18th birthday try to lead active lives and have the same interests as their healthy peers. If they are properly supported, fully comply with doctors’ instructions, provide adequate medications, and receive therapy at a good level, then they can live a long time, even have healthy children, work, study, start families, and, in principle, live to old age. Abroad, it is no longer uncommon for patients with this diagnosis to be of retirement age. In Russia there is no.

These patients can live full life, and the first thing to do is to abandon the imposed stereotype. So that both ordinary people and, most importantly, officials understand that these are the patients who need to be helped and met halfway.

– What are the statistics of the disease today? Can we talk about trends?

“People with this disease have always existed. We can say with confidence that diagnostics are now well established, much better than, say, in the 90s. There is an increase in the number of infants diagnosed. Moscow pediatricians now have a significantly greater workload due to the fact that the admission of sick children from all over the country to hospitals has now increased. It's unclear to me what will happen next. Unfortunately, the treatment of this disease in our country is progressing mainly only through the efforts of enthusiastic doctors. Nowadays, intrauterine diagnostics are well developed, and some mothers, unfortunately, decide to terminate their pregnancy after learning that the child will have such a diagnosis. Often, such a prenatal examination is done in families where there have already been cases of the birth of children with this disease.

– What is the probability of having subsequent children with a similar diagnosis in the family?

– Everything is individual. There are large families where four children were born in a row, and all are sick. And in some families only one child is sick. It's impossible to predict. But according to statistics, if a mother and father are carriers of the mutation, then there is a 25% chance that they will have a sick child.

– Do we have data on the mortality of children diagnosed with cystic fibrosis in Russia?

– The mortality rate of children has now become significantly lower compared to the indicators of the 90s. Pediatrics is more or less supported in our state. Pediatricians have more opportunities than those who treat patients who have transitioned to the adult sector. Therefore, overall, child mortality has decreased. Children in serious condition are now extremely rare, unlike what happened 10 years ago. These are normal, ordinary children: they run, walk, play. The only thing is that they need constant support with medications and a regimen.

– So, the situation with adult patients is depressing?

-Very depressing. We have to see how patients, due to the fact that they cannot receive the required treatment, inevitably worsen their condition, and they simply die before our eyes. And we can't do anything about it. In Moscow there are too few places for hospitalization of patients with cystic fibrosis. And in the regions, doctors most often do not understand how to treat and from which side to approach these patients. We don’t even have the necessary therapeutic standards that take into account the specifics of this disease. In the regions, everyone is treated the same way: symptomatically, according to standards common to all diseases, and the characteristics of the disease and its course are not taken into account. So we keep hearing about the deaths of young people who could have lived if they had had access to modern technologies treatment.

– Who is your main hope for help? More on the state or private philanthropists?

– It turns out that the main hope is in philanthropists, but now the state, at least in the person of the Ministry of Health, seems to have turned its face to our patients. The Ministry of Health has become more democratic, its officials are ready for dialogue. Appeared hotline Ministry of Health, and this simplifies many of the serious problems that arise during hospitalization and treatment of our patients in regional hospitals, in providing them with medicines. Still, we place certain hopes on the state. And, God willing, the current Ministry of Health will last, then we will have time to do a lot together.

It is also impossible to do without private charity, because the Ministry of Health in our country cannot solve all problems, primarily financial ones. But at the same time, no aggregate charity will meet the needs of all patients, not only those with cystic fibrosis, but also other serious diseases, if they are not heard by the state.

– Do significant sums of money go into maintaining the life of a patient with cystic fibrosis?

– Yes, they are simply too much for individual philanthropists. And patients and their relatives really hope that philanthropists will save them. Unfortunately, there are too many patients and not everyone can be helped. Therefore, you often have to make such difficult choices, just like in war.

– What measures, in your opinion, should be taken to improve the situation?

– Standards for the treatment of cystic fibrosis must be adopted at the global level and in accordance with global practice. And in the future, full provision of necessary treatment must be established. Unfortunately, our treatment is not the same as in Europe: there are not enough resources. And also, of course, finances. Finances are being reduced, but on the contrary they should increase, and not from case to case, and not only to help children! After all, in the end, these children will also soon become adults. They received treatment from philanthropists and from the state until they were 18 years old; when they grew up, they can no longer count on such help. They became not so interesting, not so attractive. It shouldn't be this way. Everyone wants to live, not only children, but also adults.

September 8th is Cystic Fibrosis Day. What kind of disease is this? The director of the Oxygen charity foundation, Maya Sonina, tells the story.

When is cystic fibrosis diagnosed?

Now, according to the newborn screening program, already in the maternity hospital they take a blood test from infants to identify a number of hereditary diseases, including cystic fibrosis. True, those who were born before 2006 and who were not affected by this program risk not receiving the correct diagnosis on time. There are still even adults who were previously treated for anything, but the correct diagnosis was made to them very late, already when the disease had irrevocably progressed.

Since laws in our country are constantly changing, and there is a tendency to save public money on the social and medical budget, it is very difficult to predict how lucky the parents of sick children and the patients themselves will be in the future. Nevertheless, medical science is developing, even in our country, and there is hope for those medical enthusiasts who, despite going through a lot of obstacles, still promote progressive methods of treating this disease in Russia. Therefore, let's hope that today's babies with CF are luckier than those who are 15-18 years old today.

Now the drug Kalydeco, or Ivacaftor, has been registered in the United States, which affects the very cause of cystic fibrosis, the production of exocrine glands of too viscous mucus that accumulates in all internal organs. So far, of the many, many mutations of cystic fibrosis, a drug has been developed for only one rare mutation, but trials are also underway for drugs that help with other mutations. The patient must take such a drug for life, and today, unfortunately, the annual course of Kalydeco is approximately 300 thousand dollars per year. The amount is prohibitive for benefactors, but let's hope that Kalydeco will eventually cease to be a rarity and will be available on the international market. He has amazing treatment results that return a person to a full life.

In our country there are few specialists who know cystic fibrosis, and they are worth their weight in gold. Moscow treatment centers are trying to spread their knowledge and experience throughout the country. They themselves are in close contact with European centers for the treatment of cystic fibrosis. Until now, the treatment protocols for this disease adopted in our country have not been brought into line with modern European standards. Therefore, doctors have to somehow independently find a way out of the situation in especially severe cases.

We have many neglected and untreated patients. The reason for this is the lack of beds, the lack of specialists and the state’s underfunding of the treatment needs of patients. The main simplified treatment regimen consists of antibiotics, mucolytics, hepatoprotectors and a set of special physiotherapeutic exercises to rid the lungs of stagnant infected sputum. This scheme is used to treat both here and abroad. Another thing: often our patients receive instead effective medicines their domestic or eastern substitutes, or often do not receive anything from the state.

Is rehabilitation possible?

For a patient with cystic fibrosis, the first main condition in his life is discipline and diligence. Every day for life you need to take medications by the hour, you need to actively follow physical exercise so that phlegm does not stagnate in the lungs. The second main condition: to be able to fight with the state, which is reluctant to help the patient, for your life and your rights to it. Be able to prove, be able to return to the office from which you were kicked out, be able to insist on proper treatment and provision of medications. Not everyone can do this, and often parents, not accustomed to defending rights, give up or rely on charity alone. It shouldn't be this way.

Charity cannot replace the state and plug all the holes. Positive result is possible only when a full-fledged team has been created: patient, doctor, relative. Neither the relative of the patient nor the patient himself can take a passive position of waiting, otherwise he will not survive. Each region must have its own active patient organization and simply mutual assistance, so that people do not hide in their own corners, and study their capabilities and their rights, and share such difficult experiences.

There are patients with cystic fibrosis abroad who have reached retirement age and live full lives. For us, these are mainly children and young guys who are trying to combine an ordinary healthy life with daily treatment. No matter what threatens them, they enter universities, fall in love and get married, work and even play sports while they are on their feet, before the disease knocks them down.

Several portraits

Anya Kolosova is 32 years old. She considers herself a long-liver.

Anya is a doctor by profession. She defended her PhD and plans to live and work further.

Anya is sick with cystic fibrosis and is on a waiting list for a lung transplant, hoping to live until the day when life takes a sharp turn, because she will begin to breathe freely.

Anya works for the Pomogi.org charity foundation and is a volunteer and board member of the Oxygen charity foundation. Anya helps people like her.

This is a good example for all those who complain of fatigue or depression. Anya saw death and said goodbye to those like her, those who were less fortunate, who could not be saved due to lack of beds and due to lack of medicine. Anya has a philosophical attitude towards death, and she has nothing to fear, because everything bad in her life has already happened: she was born with cystic fibrosis in Russia.

What funds care for such patients?

Thank God, those suffering from cystic fibrosis are not spared by charity. There are multidisciplinary foundations dedicated to helping CF patients, such as “Pomogi.org”, “Creation”, “Give Hope”, “Devotion”. There are foundations that specialize in helping such patients: “Islands” in St. Petersburg, and in Moscow - “In the Name of Life” and “Oxygen”. The guys have a place to turn for help, but there are still so many who don’t know about the funds or what the state is obliged to give them.

It is necessary to establish contact with the Ministry of Health, we need legal education for patients and their relatives, we need to adopt European standards of treatment, and, in the end, we need to not invest fabulous money on the international inflated image of the country, but spend this money on helping the disadvantaged in this country. Only such a power can be strong.

State assistance to CF patients. Life of children with cystic fibrosis

What is cystic fibrosis?

Myth 1: CF is a fatal disease

Myth 2: CF is a disease of the white race

Myth 3: There are fewer people with CF in Russia than in Europe

Myth 4: A person with CF can be identified by external signs.

Myth 5: Illness affects intellectual abilities

Myth 6: People with CF should not exercise

Myth 7: Among Russian stars there are no people diagnosed with CF

Myth 8: People with CF are infertile

Myth 9: It is difficult to be treated for CF in Russia

More on the topic “9 myths about cystic fibrosis: is it possible to be treated in Russia”:

ICD-10

General information

Causes and mechanism of development of cystic fibrosis

Clinical forms of cystic fibrosis

Pulmonary (respiratory) form of cystic fibrosis

Complications of cystic fibrosis

Diagnosis of cystic fibrosis

Treatment of cystic fibrosis

Forecast and prevention of cystic fibrosis

When is cystic fibrosis diagnosed?

Is rehabilitation possible?

Several portraits

What funds care for such patients?

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