Cystic fibrosis is the name of a rare genetic disease that affects more than 100,000 people worldwide. In Russia, this disease remains little known. According to statistics, every 20th representative of the Caucasian race is the cystic fibrosis gene. According to the Ministry of Health and Social Development, about 2,500 people live with this diagnosis in Russia. However, the real figure is 4 times higher.

What is cystic fibrosis?

Cystic fibrosis (CF) is a common hereditary disease. Due to a defect (mutation) of the CFTR gene, secretions in all organs are very viscous, thick, so their isolation is difficult. The disease affects the bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal glands and sex glands. In the lungs, due to the accumulation of viscous sputum, inflammatory processes develop in the first months of a child's life.

1. What are the symptoms of people with cystic fibrosis?

One of the first symptoms of the disease is a severe, painful cough and shortness of breath. In the lungs, ventilation and blood supply are disturbed, and inflammatory processes develop due to the accumulation of viscous sputum. Patients often suffer from bronchitis and pneumonia, sometimes from the first months of life.

Due to the lack of pancreatic enzymes in patients with cystic fibrosis, food is poorly digested, so these children, despite increased appetite, lag behind in weight. They have profuse, greasy, fetid stools, badly washed off from diapers or from a potty, there is a prolapse of the rectum. Due to the stagnation of bile, some children develop cirrhosis of the liver, gallstones may form. Moms notice the salty taste of the baby's skin, which is associated with increased loss of sodium and chlorine through sweat.

2. Which organs are affected by the diseaset in the first place?

Cystic fibrosis affects all endocrine glands. However, depending on the form of the disease, either the bronchopulmonary or digestive system suffers first.

3. What forms can the disease take?

There are several forms of cystic fibrosis: pulmonary form, intestinal form, meconium ileus. But most often there is a mixed form of cystic fibrosis with simultaneous damage to the gastrointestinal tract and respiratory organs.

4. What could be the consequences ifthe disease is not diagnosed in time and treatment is not started?

Depending on the form of the disease, prolonged launching can lead to different consequences. So, complications of the intestinal form of cystic fibrosis are metabolic disorders, intestinal obstruction, urolithiasis, diabetes mellitus and cirrhosis of the liver. While the respiratory form of the disease can result in chronic pneumonia. Subsequently, pneumosclerosis and bronchiectasis are formed, symptoms of "cor pulmonale", pulmonary and heart failure appear.

5. Does the disease affect the mental development of a person?

Patients with cystic fibrosis are mentally completely normal. In addition, there are many truly gifted and intellectually developed children among them. They are especially successful in activities that require peace and concentration - they study foreign languages, read and write a lot, are engaged in creativity, they make wonderful musicians and artists.

6. Is it possible to get cystic fibrosis?

No, this disease is not contagious and is transmitted only at the genetic level. No natural disasters, illnesses of parents, their smoking or drinking alcohol, stressful situations do not matter.

7. Can the disease manifest itself only in adulthood, or do symptoms appear from birth?

Cystic fibrosis can be quite long and asymptomatic - in 4% of cases it is diagnosed in adulthood. But most often the disease manifests itself in the first years of life. Before the advent of high-tech diagnostics and treatment, children with cystic fibrosis rarely lived to be 8 or 9 years old.

8. Can sick children go in for sports, or should they have a gentle regimen?

Going in for sports is not only possible, but even necessary - physical activity helps to evacuate sputum more efficiently and maintain good performance. Especially useful are swimming, cycling, horseback riding, and most importantly, the kind of sport that the child himself gravitates towards. However, parents should be wary of traumatic sports.

9. Can cystic fibrosis be cured, or is the disease untreatable?

To date, it is impossible to completely defeat this disease, but with constant adequate treatment, a person with such a diagnosis can live a long, full life. Transplantation of damaged organs is now being practiced.

10. How is the treatment going?

The therapy of cystic fibrosis is complex and is aimed at thinning and removing viscous sputum from the bronchi, fighting infection in the lungs, replacing missing pancreatic enzymes, correcting multivitamin deficiency, and diluting bile.

A patient with cystic fibrosis constantly, throughout his life, needs medication, often in large doses. They need mucolytics - substances that destroy mucus and help its separation. In order to grow, gain weight and develop with age, the patient must receive drugs with each meal. Otherwise, food simply will not be digested. Nutrition is also important. Antibiotics are often needed - they help control respiratory infections and are prescribed to stop or prevent exacerbation. In case of liver damage, hepatoprotectors are needed - drugs that dilute bile and improve the function of liver cells. Many medications require inhalers to be administered.

Kinesitherapy is vital - breathing exercises and special exercises aimed at removing sputum. Classes should be daily and lifelong. Therefore, the child needs balls and other equipment for kinesitherapy.

11. Is it possible to be treated onhome, or is it necessary to undergo outpatient treatment?

Cystic fibrosis treatment often requires hospitalization, but it can be done at home, especially if the disease is mild. In this case, a huge responsibility in the treatment of the child falls on the parents, but constant communication with the attending physician is needed.

12. How much does it cost to treat an illness?

Currently, the treatment of cystic fibrosis is very expensive - the cost of maintenance therapy for a patient is from 10,000 to 25,000 dollars a year.

13. What exercises should be done in patients with cystic fibrosis?

A sick child needs kinesitherapy every day - a special set of exercises and breathing exercises aimed at removing sputum. There is a passive technique that is used in newborns and children under 3 years old and includes changes in the position of the child's body, shaking, manual vibration. Subsequently, the patient must be transferred to an active technique, when the child himself does the exercises. Before starting kinesitherapy, parents are required to consult a doctor.

14. Shoulda doctor to be present during the exercises?

At the initial stage, the attending physician or kinesitherapist must be present at each massage session, later parents can learn therapeutic massage themselves.

15. Is it true that mIs ucoviscidosis the most common hereditary disease?

Cystic fibrosis is indeed one of the most common hereditary diseases in patients belonging to the Caucasian (Caucasian) population. Every 20th inhabitant of the planet is a carrier of a defective gene.

16. How often are babies born with cystic fibrosis?

In Europe, one baby out of 2000-2500 newborns is sick with cystic fibrosis. In Russia, the average incidence of the disease is 1:10,000 newborns.

17. Ifparents have a gene mutation, what is the probability of having a child with cystic fibrosis?

If both parents are carriers of the mutated gene, but they themselves do not get sick, the probability of having a sick child is 25%.

18. Is it possibleto diagnose this disease in the early stages of a woman's pregnancy?

Yes, at the 10-12th week of pregnancy, a disease of the fetus can be detected. But it must be borne in mind that the diagnosis is carried out with an already onset pregnancy, therefore, in the case of a positive result, parents need to make a decision to maintain or terminate the pregnancy.

19. What is the mortality rate among children with cystic fibrosis?

Among patients with cystic fibrosis, the mortality rate is very high: before reaching adulthood, 50-60% of children die.

20. What is the average life expectancy for patientscystic fibrosis?

Worldwide, the level of treatment of cystic fibrosis is an indicator of the development of national medicine. In the US and European countries, the average life expectancy of these patients is increasing every year. At the moment, this is 35-40 years of life, and babies who are born now can count on even longer life. In Russia, the average life expectancy of patients with cystic fibrosis is much lower - only 20-29 years.

21. Are there any foundations that help children and adults suffering from cystic fibrosis?

There are several foundations that work with sick children: Pomogi.Org, the Creation Foundation, the special foundation In the Name of Life, created by parents of children suffering from cystic fibrosis, and the Oxygen program of the Warmth of Hearts charity foundation.

22. What support is provided to the sick in these funds?

The site provides reference information for informational purposes only. Diagnosis and treatment of diseases should be carried out under the supervision of a specialist. All drugs have contraindications. Expert advice is required!

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 out of this article.

What is cystic fibrosis?

This disease is quite insidious. According to some doctors, for one diagnosed case of the disease, there are ten (!) Not detected. 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 birth of the baby. The earlier the disease is detected and the earlier treatment is started, the more chances the child has to live longer.

Cystic fibrosis is one of the most common genetic diseases in humans. With this disease, the glands of the respiratory system, the gastrointestinal tract and others, form too thick mucus.

Pulmonary disease over time can cause the lower right side of the heart (right ventricle) to collapse.

Complications in digestion

Cystic fibrosis makes patients more prone to diarrhea. Viscous secretions clog the pancreatic ducts, preventing the release of enzymes necessary for the digestion of fats and proteins. Secretions prevent the body from absorbing fat-soluble vitamins (A, D, E, K).

Cystic fibrosis affects the pancreas, and because this organ controls blood sugar levels, people with cystic fibrosis can develop diabetes. In addition, the bile duct can become clogged and inflamed, leading to liver problems such as cirrhosis.

Treatment and therapy of cystic fibrosis

In order to minimize the symptoms and complications of cystic fibrosis, several treatments are used, their main goals are:

• infection prevention
• reduction in the amount and liquefaction of the consistency of secretions from the lungs
• improved breathing
• calorie control and proper nutrition

To achieve these goals, cystic fibrosis therapy may include:

• Antibiotics. The latest generation of drugs are great at fighting bacteria that cause lung infections in patients with cystic fibrosis. One of the biggest problems with the use of antibiotics is the emergence of drug-resistant bacteria. In addition, long-term use of antibiotics can cause fungal infections in the mouth, throat, and respiratory system.
• Mucolytic drugs. The mucolytic drug makes the mucus thinner and therefore improves sputum separation.
• Bronchodilators. The use of medications such as salbutamol can help keep the bronchi open, which encourages expectoration of mucus and secretions.
• Bronchial drainage. In patients with cystic fibrosis, mucus must be manually removed from the lungs. Drainage is often done by beating the chest and back with the hands. Sometimes an electrical device is used for this. You can also wear an inflatable vest that emits high frequency vibrations. Most adults and children suffering from cystic fibrosis need to have a bronchial drain at least twice a day for 20 minutes to half an hour.
• Enzyme oral therapy and proper nutrition. Cystic fibrosis can lead to malnutrition because the pancreatic enzymes needed for digestion do not reach the small intestine. So people with cystic fibrosis may need more calories than healthy people. A high-calorie diet, special water-soluble vitamins and pills containing pancreatic enzymes will help you not lose weight or even gain weight.
• Lung transplant. A doctor may recommend a lung transplant if there are serious breathing problems, life-threatening pulmonary complications, or if the bacteria have developed resistance to the antibiotics used.
• Analgesics. Ibuprofen may slow the destruction of the lungs in some children with cystic fibrosis.

Lifestyle for people with cystic fibrosis

If your child suffers from cystic fibrosis, one of the best things you can do is learn as much as you can about the disease. Diet, therapy and early detection of infections are very important.

As with adult patients, it is important to perform daily "percussive" procedures to remove mucus from the child's lungs. A doctor or pulmonologist can suggest the best way to perform this very important procedure.

• Be aware of vaccinations. In addition to regular vaccines, also get pneumococcal and flu shots. Cystic fibrosis does not attack the immune system, but it does make children more susceptible and prone to complications.
• Encourage your child to lead a normal life. Physical exercise is of paramount importance for people of any age suffering from cystic fibrosis. Regular exercise helps expel mucus from the airways and strengthens the heart and lungs.
• Make sure your child is following healthy diet. Talk to your family doctor or dietitian about your child's dietary needs.
• Use nutritional supplements. Give your child fat-soluble vitamin and pancreatic enzyme supplements.
• See to it that the child drank a lot of liquid, - it will help thin the mucus. This is especially important during the summer season when children are more active and tend to lose a lot of fluids.
• Do not smoke in the house and even in the car, and do not allow others to smoke in the presence of your child. Passive smoking is harmful to everyone, but people with cystic fibrosis are particularly affected.
• Remember to always wash your hands. Teach all your family members to wash their hands before eating, after using the toilet, when they get home from work or school. Hand washing is the best way to prevent infection.

In cystic fibrosis, adding protein and calories to the diet is important. After medical advice, you can also take additional multivitamins containing vitamins A, D, E and K.

Enzymes and mineral salts

All patients with cystic fibrosis should take pancreatic enzymes. These enzymes help the body metabolize fats and proteins.

People who live in hot climates may need a little extra table salt.

Food habits

• Eat when you have an appetite. This means that it is better to have several small meals throughout the day.
• Always have a variety of nutritious snacks on hand. Try to eat something every hour.
• Try to eat regularly even if it's just a few sips.
• Add grated cheese in soups, sauces, pies, vegetables, boiled potatoes, rice, pasta or dumplings.
• Use skim milk, partially skimmed, fortified cream or milk, for cooking or just drinking.
• Add sugar to juices or hot chocolate. When you eat cereal, try adding raisins, dates, or nuts.

"The son smiled, rumbled to me"

Ulyana Dotsenko was called by a doctor from the intensive care unit and said that her three-month-old son had died. The boy was sick with cystic fibrosis. “We first spent two months in the Filatov hospital, because he had intestinal obstruction. There he underwent an operation on the intestines, saved. For a while he had a stoma. Then the work of the intestine improved. The son smiled, rumbled to me. On May 11, we were discharged, but he spent only two days at home and began to choke. The ambulance took him to the Morozov hospital,” says Ulyana.

The events of the next 30 days, big and small, are the story of a mother's powerlessness as she watches her child go.

“We arrived there at two o'clock, and we were assigned to the department closer to the night. At night he began to choke again. He was taken to the emergency room. In intensive care, they did something to him, then they returned him back to me. As I was later told, he began to suffocate due to pneumonia and due to the fact that when he was ill, people had very thick sputum, ”recalls the woman.

The child was taken to the intensive care unit four times. The fourth time the boy stayed there for a week, they were already going to return him to the department, but a high temperature rose. “I insisted that he stay in intensive care,” says Ulyana.

According to the mother, the boy was connected to the ventilator three times, the last time for a week. “As the resuscitator told me, the child was tired of breathing, and so they connected him to a ventilator. From June 6 until the time of his death, he was connected,” she says.

Many nurses don't know about this.

“Bouts of respiratory failure occur for a variety of reasons. The standard procedure in this case is to put the person on a ventilator. For patients with cystic fibrosis, a long stay on a ventilator is death. However, a huge number of resuscitators do not know this, because cystic fibrosis is a rare disease,” says Irina Dmitrieva, a member of the All-Russian Association for Patients with Cystic Fibrosis.

“For these patients, the lungs must definitely work,” she explains. – For them, physical activity is very important in order to keep the lungs in good shape all the time, so that their volume is always realized. And artificial ventilation practically turns them off from work. An ordinary person, after disconnecting from the ventilator, will “breathe”. A patient with cystic fibrosis does not. Within a short time, while he is on a ventilator, his lungs go into a non-working state irrevocably.

“There was a tragic incident,” recalls Maya Sonina, president of the Oxygen Charitable Foundation for Helping Patients with Cystic Fibrosis. - It was a grown man. He didn't want to complain about being given generic antibiotics. On these generics, his condition and prognosis worsened.

He was admitted to the regional clinic with severe respiratory failure. Mom called our foundation, asked: "Get us out of here." Both the doctor in Moscow, Stanislav Alexandrovich Krasovsky, and I talked with my family about the fact that we should not agree to mechanical ventilation. We were ready to transport him to Moscow, where he would be given non-invasive ventilation of the lungs, put on a waiting list for transplantation. But the guy agreed to a ventilator, because he was already tired of everything. And that’s it, he hasn’t returned.”

Reference
Ventilation of the lungs on the NVL device does not require tracheal intubation and is carried out through a sealed face mask. With this method, the patient's spontaneous breathing is supported.

According to Maya Sonina, such cases occur in many regions: Altai, Omsk, Kemerovo, Rostov-on-Don, Krasnodar, Stavropol, etc.

“When there is a question, death or mechanical ventilation is another matter”

Hospital chamber. Archival photo: RIA Novosti

“Adolescents and adults with cystic fibrosis should not be connected to artificial lung ventilation,” says Stanislav Krasovsky, senior researcher at the Cystic Fibrosis Laboratory of the Research Institute of Pulmonology of the Federal Medical and Biological Agency of the Russian Federation. - It is impossible to treat respiratory failure with the help of mechanical ventilation at the stage of the disease when the lungs completely lose their function.

It has been shown all over the world, and our experience shows, that putting on a ventilator is almost tantamount to the end of a patient's life. This is due to many processes occurring in the body of patients with cystic fibrosis, in particular, with deep structural changes in the lungs, which are formed by a certain age.

When a patient with cystic fibrosis is in the final stages of the disease and waiting for a lung transplant, the only salvation for him is non-invasive ventilation, the doctor emphasized.

“Unfortunately, this is little known to those who are not specialists in cystic fibrosis. Little is known about this in the regions. And, unfortunately, mechanical ventilation is often used,” Stanislav Krasovsky stated.

“It’s a different matter when some kind of acute, but potentially reversible process occurs,” he continued. For example, pulmonary hemorrhage. Then the resuscitator, seeing that there are no other ways to save the patient, temporarily conducts artificial ventilation until the acute condition ceases.

When there is a question, death or mechanical ventilation, and the decision needs to be made within a few minutes, or even seconds, such a decision will be professional.”

“In the hospital, my daughter always had a temperature of 40”

“In the healthcare system, there is no allocation of cystic fibrosis in a separate case. Meanwhile, the management of this disease is associated with a very large number of features,” said Irina Dmitrieva. One of the consequences is the illiterate behavior of resuscitators.

Another problem that poses a threat to the lives of patients with cystic fibrosis is outdated sanitary standards that do not take into account the specifics of their disease.

“I can say about my daughter,” says Irina Dmitrieva. - We with her, starting from a year and a half, were annually in hospitals for intravenous treatment. There was not a single case that she did not get sick there with a temperature of 40. Despite the fact that we always lay in a separate ward, she did not go out without a mask, we used a liter of soap during the two weeks of our stay and all the time quartz room. But due to the general ventilation in the infectious diseases departments and the poor hygiene of the staff, this did not help.”

Ideally, patients with cystic fibrosis should be placed not just in individual rooms, but in Meltzer boxes with separate ventilation.

However, SanPins do not provide for this. “Until the SanPins change, doctors will use them to cover up their failure and inability to provide the safest possible treatment for patients with cystic fibrosis,” says Irina Dmitrieva.

How dangerous for such patients are specific infections with which they can cross-infect each other in hospitals, scientific studies say. For example, the Burkholderia cenocepacia ST709 strain in cystic fibrosis reduces human life expectancy by 10 years.

The Ministry of Health is currently working on clinical guidelines for microbiology in cystic fibrosis. They have already been drawn up, verified by experts, and have been publicly discussed. It remains only to approve them, said a member of the All-Russian Association for Patients with Cystic Fibrosis.

"Diapers are only changed once a day"

We do not know exactly what happened to Ulyana Dotsenko's three-month-old baby and whether it was possible to save him. In the memory of the mother, moments were recorded that, from her point of view, indicate the “negligence” of the hospital staff. Perhaps if the child had survived, all these events would have seemed insignificant to her. But the baby's death changed everything.

Ulyana was with her son in the intensive care unit every day from 12:00 to 21:00. “Once there was a situation when I come and see that my child is lying without an oxygen mask, crying, pulling his arms, legs, and pulled out a nasogastric tube for himself. When I ran out and started to resent, they told me: we were busy, ”she recalls.

“The nurse kept leaving my baby in diapers stained with blood and formula. This is unacceptable for children with cystic fibrosis. They must be in sterile conditions. When I told the nurse about this, she replied: diapers are changed only once a day, ”continues Ulyana.

According to her, another employee did not wash mugs after milk formula and forgot to give medicines on schedule. “Children with cystic fibrosis are always on enzyme therapy. And my child should have always received Creon, so the attending physician wrote. But in intensive care they gave him micrasim,” the woman says. And during the inhalation, the nurse did not make sure that the mask fits snugly to the face, and the child simply did not receive the vital drug because of her mobility, she believes.

“On Wednesday, June 13, my child’s saturation began to fall,” Ulyana recalls. - I called the resuscitator on duty, I say: do something. He just looked at the monitor and said, well, we'll watch. And in the morning they called me on the phone and said that the child had died.

Checking in progress

The Internet portal "Mercy.ru" turned to the Department of Health of the city of Moscow with a request to comment on the facts listed by Ulyana Dotsenko.

“The Department of Health of the city of Moscow initiated an internal check on this case. We will be able to report the results after the verification is completed, ”the response letter that came to the editor says.

“It is important to control what is done to the child”

Maya Sonina, Director of the Oxygen Foundation

According to Maya Sonina, there are examples in Russian medical practice when children with the same pathology as Ulyana Dotsenko's son had were successfully treated. And there are examples when everything ended just as tragically.

Most recently, the Oxygen Foundation raised funds for a boy and a girl with cystic fibrosis from two different regions who also had intestinal obstruction. One child died and the other was saved.

“Back in the 2000s, the life expectancy of children with cystic fibrosis was much lower,” says Maya Sonina. “In the past five years, the mortality rate, at least in children under 18 years old, has remained at 0.2%.”

For parents of a child with cystic fibrosis, it is important to constantly control what is being done to him, Irina Dmitrieva believes. First, they need to know what medications he is receiving and at what dosages. For example, low-quality antibiotics often cause premature death of patients, she says. Secondly, to regularly consult with specialists in cystic fibrosis - not necessarily in Moscow. There are also such specialists in other large cities: for example, in Tomsk, Novosibirsk.

“It is better to always be in contact with doctors from the Cystic Fibrosis Center, who can at least remotely give competent advice, if not to the mother, then to the doctor,” Irina Dmitrieva emphasized. - In my experience, the doctor in the hospital says that he knows everything. But I always dialed the number of our attending physician from the Cystic Fibrosis Center and gave the phone to the doctor in the hospital: talk.”

Parents suffer in silence

In addition, Irina Dmitrieva advises to issue a palliative status to the child, if possible. In this case, he will be able to take regular courses of antibiotics legally at home, without being in danger of catching an infection in the hospital.

“Many parents are afraid of palliative status, they believe that a palliative patient is a condemned suicide bomber. But it needs to be treated differently,” she says. “This is a formal status that entitles a mother to demand regional support for her sick child.”

And if the child suffered because of the incompetence of doctors, parents should not be silent, Irina Dmitrieva believes. As a rule, people who have lost children are not ready to start proceedings. “At first they suffer very much, then the pain dulls, but to return to what happened is to reopen the wound. However, if we keep hushing up problems all the time, then we will not have a chance to solve them,” she says.

Cystic fibrosis - the most common genetic disease that occurs among residents of the European part of Russia and Europe. It affects the respiratory, digestive, all secretory organs. The lungs are the most commonly affected by cystic fibrosis.