People with cystic fibrosis live longer, but many problems remain. Help for patients with cystic fibrosis Is it possible to become infected with cystic fibrosis?

Title Cystic fibrosis patients live longer, but many problems remain
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According to the Cystic Fibrosis Foundation, the average life expectancy of patients with cystic fibrosis (cystic fibrosis of the pancreas) has increased significantly and now averages 35 years. Currently, adults account for up to 40% of patients with cystic fibrosis. In recent years, life expectancy has increased by about 50%.

The main factors that improve life expectancy and quality of life are a more aggressive nutrition strategy, improved effectiveness of antibiotics and mucolytics, and the development of specialized care centers.
The average person with cystic fibrosis can now experience the joys of family life, college, and a career.
However, there are still problems that need to be solved: 1) bacteria that are difficult to treat. Approximately 80% of patients are colonized with the bmicroorganism Pseudomonas by age 18. Over time, this bacterium becomes increasingly resistant to antibiotics.
2) An important problem is lung diseases. Young people have greater reserves, but a quarter of patients have lung capacity that is more than 40 percent less than expected.
Cystic fibrosis not only destroys the lungs, but also clogs the pancreatic ducts with mucus plugs. As a result, pancreatic enzymes do not enter the digestive tract, and food cannot be absorbed. Problems with the pancreas continue to shorten the lives of patients. 20 to 25% of patients with cystic fibrosis develop diabetes. The average age of onset of diabetes is from 18 to 24 years.
Bone fragility in this disease is noted in utero. About 67% experience bone thinning and osteoporosis. This is due to the fact that pancreatic insufficiency disrupts the processes of fat digestion and absorption of fat-soluble vitamins A, E, K and especially D, which is critical for bone strength. Regular exercise helps strengthen bones, but patients with cystic fibrosis cannot exercise due to respiratory failure.
Family matters
Men with cystic fibrosis have problems having children. More than 95% of men with cystic fibrosis are sterile. In cystic fibrosis, a congenital absence of vas deferens can often be observed - abnormal development of the duct, which ensures the passage of sperm from the testicles.
Fertility in women is also reduced. They can have children, but in severe forms of cystic fibrosis there are often problems with conception due to nutritional disorders. Plus, impaired lung function can cause problems with pregnancy. If there are problems with conception, adoptive children or the use of donor sperm may be a solution. For example, intracytoplasmic sperm injection (ICSI) can be used, in which sperm is injected directly into the cytoplasm of mature eggs. However, ICSI costs $10,000 per injection with no guarantee of success.
Psychological picture: the decision to start a family is hindered by the feeling of approaching death. Even if they are able to have children, they will not always have time to “put them on their feet.”

Lung transplantation remains the treatment for despair. This treatment is recommended if lung function drops to 30%. However, only 60% of patients live more than 5 years after transplantation. According to many scientists, lung transplantation does not so much prolong life as improve its quality.

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What kind of disease is this? Why do some people get it and others don't? How can modern medicine help patients with this disease and is it possible for a person with cystic fibrosis to survive?
.site) will help you get from this article.

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.

On September 8, Russia celebrates the International Day of Patients with Cystic Fibrosis, a 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 memorial 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 of the Oxygen charity foundation, 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 secretions secreted by different organs have too high a density and viscosity, which causes damage to the bronchopulmonary system, intestinal glands, liver, pancreas, sweat and salivary glands, etc. This especially affects the lungs, where chronic inflammatory processes begin. Their ventilation and blood supply are disrupted, causing a 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 pays special attention to children. 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, such centers as Yaroslavl, Samara, from where patients do not want to go to Moscow or St. Petersburg, because everything is more or less stable there, everything is at hand, and there is good therapy and drug supply. The rest, unfortunately, are forced to wait in line. Therefore, skip treatment and routine diagnostics. And this is already 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 a patient live to old age with adequate treatment?

– 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, carry out 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 - no.

These patients can live a 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. That's why we keep hearing about the deaths of young people who could have lived if they had had access to modern treatment technologies.

– 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. A hotline of the Ministry of Health has appeared, and this simplifies many of the serious problems that arise during the 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.

Mister President!

Last week you took an active part from your Twitter in a demonstrative exposure of the “rudeness of doctors at the Russian Children’s Clinical Hospital.” however, I dare to assure you that patients of medical genetics at the Russian Children's Clinical Hospital have other problems that are worthy of your government attention. For these problems lead to their early death.

Department of Medical Genetics, Russian Children's Clinical Hospital - this is a unique department , practically the only one for children from all regions of the country where patients diagnosed with cystic fibrosis are treated. it employs the most experienced and most knowledgeable specialists in our country on this disease. In the vast majority of regions, this disease cannot be treated or diagnosed. Not trained. All patients are taken to Moscow.

Cystic fibrosis(CF) is the most common genetic disease. in our country there should be, judging by the statistics of other countries, no less than 15,000 people, although the statistics of the Ministry of Health and Social Development on this disease are underestimated to the figure of 2186 patients), however, every 25th person on earth is a carrier of this defective gene. Outwardly, carriers do not differ in any way from healthy people. however, there is one difference: these people, they say, cannot become infected with cholera. Scientists say that this genetic defect occurred in people who survived widespread cholera epidemics in Europe.
Carriage can be diagnosed only by conducting a DNA test - a very expensive test that is not paid for by the state or insurance. There is no evidence for it, except for personal guesses or desires. If 2 such people meet and start a family, they will have a 25% chance of having a sick child. During pregnancy, it is theoretically possible to detect cystic fibrosis in the fetus, but in practice this happens extremely rarely for the reason already stated - there are no specific indications. The disease does not have any social, religious or national preferences, i.e. - no one is safe from the homeless to the queen. Children with cystic fibrosis do not differ from their peers in intellectual development, and even most often surpass them. Their main difference is that they learn everything about death early, since they are used to losing friends, girls and boys like them. And therefore they especially value life.

this is the preamble. and now - an outpatient clinic.

In Europe, the average life expectancy of people with CF is 30-40 years. they live full lives, create families, work, and achieve self-realization.
This disease is not curable at the moment, but constant research and development of new drugs is underway in Europe.
At the moment, the fight against the disease consists of constant antibacterial, mucolytic, enzyme therapy, physiotherapy, and lung transplants are also being successfully performed in Europe and the USA.

what is happening here?
We do not conduct any research and development of drugs.
despite the fact that pediatricians, through real dedication, have learned to pull these children out and lead them into full adult life, the official life expectancy of CF patients in the Russian Federation is 16 years. in this regard, MV is not an official medical exemption for military service - i.e. the state believes that these people should not live to be 18 years old. If you are over 18 years old, it means one of two things: either you are dead or you do not have cystic fibrosis. Choose. The state thinks so.
and this position can be traced throughout.

I want to especially emphasize - THE POSITION OF THE STATE, because doctors are doing everything in their power under the conditions that are given to them.
I can’t name names, but I know very well that in Moscow there is a doctor whom patients with CF can call at any moment of the day or night, and he, dropping everything, will come to their home with his equipment and will save them: install IVs, connect to oxygen.
Why can't you name the hero? but because what he is doing is not legal. SAVING PEOPLE FROM DEATH IS ILLEGAL IN OUR COUNTRY. Such manipulations are allowed to be carried out only in a hospital. Why don’t they go to the hospital? - BECAUSE THERE IS NO PLACE. there are no places. you see, as I already wrote, patients should not live with us until the age of 18. in accordance with this, for those who nevertheless, against the will of the state, crossed this threshold, ONTHERE ARE ONLY 4 BEDS IN THE WHOLE COUNTRY IN MOSCOW IN HOSPITAL No. 57 . and there is also such a word as QUOTA , which the state regulates how many people can get sick and when. and if you find yourself redundant or sick at the wrong time...

drug provision. the same as for everyone, i.e. according to the residual principle “God, it’s not good for us.” but if a more or less healthy person survives at the very least on analgin, then a patient with CF will miss treatment without the necessary antibiotics, the pathological process will IRREVERSIBLY develop further, and this will inevitably worsen the prognosis for life. However, even with cheap medicines, patients are not provided in full and with great delays. It is not uncommon for your regional health officials to respond to parents with their legitimate demands for help: “There was no point in giving birth to freaks; now they walk around here begging.” This is one of the most common quotes.

Charity. As a result, philanthropists are trying to regulate drug supply at the very least. But philanthropists will never provide lifelong treatment for all patients. Plus, philanthropists must pay taxes to the state for the pleasure of helping others. Our state has settled down well: on the one hand, it saves on disadvantaged citizens, and on the other hand, it makes money on those who do its work!

Lung transplantation. This is the most "fun" topic. At the moment, this operation is not carried out in our country. at all. but there are plans. It’s been here for a year now, and the Ministry of Health doesn’t forget to report about it.
I don’t know if you are aware, but this summer the whole world raised a colossal amount - 200,000 euros for a lung transplant for Pavel Mitichkin, the first Russian patient with CF, who was agreed to undergo a lung transplant in Germany.

I would like to make a separate remark. collected money. Pavel was sent. When the doctors saw him, they thought that Buchenwald had resumed its work. in general, they asked Pavel not to leave the room, because they had never seen such a seriously ill patient in their life: exhausted, with a bunch of dangerous concomitant infections - he was potentially dangerous for their pink and well-fed German patients... what do you think? What did they think at that moment about our country, which had defeated fascism, but was bringing its citizens to such a state?

By the way, in the Russian Federation there is a law according to which, if the state cannot provide treatment to its citizen on its territory, then it MUST pay for it abroad. Why did we collect 200,000 euros for Pavel from scratch? - Because our state officially refused him, because "In accordance with clause 2.26 of the Administrative Regulations, the availability of the possibility of providing the necessary medical care to a patient on the territory of the Russian Federation is the basis for the refusal of the Ministry of Health of the Russian Federation to a citizen of the Russian Federation to provide a public service "So here it is. There is an opportunity - wait. It doesn’t matter that the patient won’t live that long. Well, he won’t live, but we’ll save money, right? You remember what the Prime Minister told us on a related topic: “ There are sensitive things, of course, when foreign manufacturers, with the help of our authoritative people, promote their products and say that without them everyone here will die tomorrow, without these drugs,” said V. Putin. -You just have to endure it , that's all. We are following this path, little by little, of course, without jerks, but we will move».

Well, do you have a picture, Dmitry Anatolyevich? or do you really need to talk about who called whom a “bitch” and sent him to “yuh”? - are these more compelling reasons for indignation and your high intervention than the described violation of laws and inaction of the Ministry of Health? do you need trash - guts and poop out? Well, excuse me, CF patients die painfully, but quietly - they don’t have the strength to scream. but they die like flies, most often - ahead of time, due to timely assistance not provided or due to an intra-hospital infection, which is ineradicable due to overcrowding of beds. and the Ministry of Health is to blame for this. Forgive me for my impudence, but is it within your and the Prime Minister’s competence to check the activities of this department, or can you only punish nurses and doctors? How long can you organize a demonstrative flogging of doctors?! What are you trying to achieve? THEY ARE ALREADY LEAVING THE PROFESSION. WHO WOULD YOU WANT TO SEE IN THEIR PLACE? Gennady Malakhov?

***

These are real, already real children's graves. If they had been diagnosed on time, if they had been treated on time, they could still live. And they wanted to live. But doctors do not heal with the Holy Spirit alone. And also they do not treat with the help of fines, deductions from salaries, punishments and saving budget funds. Start saving those who are still alive! we need modern hospitals, medicines, sufficient and not residual funding! Without this, we will all die - how do you like this topic to be brought to the TOP?

Materials taken from the blog pch_maya , from M. Sonina, coordinator of the “Oxygen” charity program (help for people with cystic fibrosis) of the “Warmth of Hearts” foundation - for contact: bukolik 1 dog yandex . ru