"Butterfly children": what you need to know about epidermolysis bullosa. Epidermolysis bullosa - is it possible to cure a butterfly disease in humans

Text: Sofia Andreeva

The birth of a long-awaited baby, whom you loved with all your heart even before his birth, is, of course, happiness. And when doctors diagnose an incurable genetic disease in your crumbs, this is a terrible tragedy. But even then you should not succumb to despair and give up - this will not help your child!

For the entire group of diseases, epidermolysis bullosa is common in the early onset of the disease, more often from birth, from the first days of life. The main clinical expression is the appearance on the skin, and often on the mucous membranes, of exfoliation of the epidermis from the dermis in the form of blisters (bulls) or erosions with the slightest mechanical injury. Such a slight vulnerability of the skin is compared with the tender wing of a butterfly, and sick children are called "butterfly children" abroad. The butterfly has become the emblem of the associations of patients with epidermolysis bullosa, organized in almost all countries of the world (DEBRA).

In Russia, too, there are such patients. There are no specialists, no medicines, no conditions. And there are patients. And they suffer a lot. In this regard, the idea arose to create an organization that could help these children - the BELA Foundation. On October 1, 2011, the BELA Foundation became a member of the international association DEBRA.

epidermolysis bullosa- not infectious, but genetic disease. They cannot be infected in any way. A person receives a defective gene from his parents at the time of his conception and can pass this disease only to his children and only at the time of their conception. Infectious diseases transferred during pregnancy also do not lead to the birth of a child with this disease.

If epidermolysis bullosa is suspected a biopsy should be done to confirm the diagnosis and determine the type of epidermolysis bullosa. A biopsy should be taken from a fresh bladder. Based on the results of the biopsy, DNA analysis is performed (genetic mutation analysis, carried out on the blood from the patient's vein) - with its help, genetic mutations are detected, and the type of inheritance is determined, and the diagnosis is specified and specified.

Signs and symptoms of epidermolysis bullosa

  • 1) Rashes and blisters.
  • 2) Deformity or loss of fingernails and toenails.
  • 3) Eye and nose problems(In some forms of epidermolysis bullosa, the blisters can affect the eyes and the internal integument of the body: the septa of the mouth and nose, which leads to vision problems and difficulties in normal breathing).
  • 4) Problems with gums and teeth.
  • 5) Throat and mouth problems(bloating inside the throat, esophagus and upper respiratory tract).
  • 6) peeling of the skin; blistering of the scalp and hair loss.
  • 7) Other signs and symptoms of epidermolysis bullosa: difficulty swallowing; excessive sweating; the formation of bloating in the stomach, intestines and urinary organs; peeling of the skin; thinning of the skin; thickening of the skin on the fingers and soles of the feet (hyperkeratosis); acne on the skin (milium - whiteheads); skin fragility; lesions of the skin of the anus, mucous membranes of the rectum and genitals.

Is it possible to have a child with epidermolysis bullosa?

Modern technologies make it possible to identify defective genes in patients with epidermolysis bullosa and their family members. With the knowledge of certain gene mutations that cause epidermolysis bullosa, it is now possible to identify a specific gene mutation in a family and then perform prenatal tests on a pregnant woman. The diagnosis of the fetus can be made on the basis of the study of amniotic fluid or chorionic villi as early as the tenth week of pregnancy.

How to help children with epidermolysis bullosa

If you want to contribute to helping children suffering from epidermolysis bullosa, here are the details of the BELA Charitable Foundation:

FOR TRANSFERS IN RUB
ZAO Unicredit Bank
ZAO Unicredit Bank
Settlement account in rubles:
40703810900014421639
CJSC "UNICREDIT BANK" MOSCOW
K/s: 30101810300000000545
BIC: 044525545
TIN: 7710030411
Gearbox: 775001001

FOR TRANSFERS IN RUB
OJSC "SBERBANK OF RUSSIA
OJSC "Sberbank of Russia
Settlement account in rubles:
40703810938050001321
At OJSC SBERBANK OF RUSSIA
K/c: 30101810400000000225
BIC: 044525225
TIN: 775001001
Gearbox: 7707083893

FOR BANK TRANSFERS IN EUR
ZAO Unicredit Bank
Currency account in Euro (EUR):
40703978100014421672
Correspondent bank: UniCredit Bank AG
SWIFT Code: HYVEDEMM
Beneficiary bank: UniCredit Bank, Moscow, Russia
SWIFT Code - IMBKRUMM

FOR BANK TRANSFERS IN USD
OJSC "Sberbank of Russia
Fund Supporting Children With Epidermolysis Bullosa, BELA
Currency account in US dollars (USD):
40703840838050000023
Correspondent bank: JPMorgan Chase Bank NA, New York, NY
SWIFT Code: CHASUS33
Beneficiary bank: SBERBANK, Moscow, Russia
SWIFT Code: SABRRUMM011

Butterfly syndrome is a congenital dermatological disease that has received the name epidermolysis bullosa in official medicine. The skin of sick children from birth is tender and fragile, like butterfly wings. It is damaged by any touch, which causes excruciating pain to the child. This rare disease occurs in one child in a hundred thousand newborns.

Butterfly Syndrome is a beautiful name that hides a terrible disease. The mucous membrane also becomes fragile and thin. The oral cavity, larynx and esophagus are often damaged by hard foods. Skin cells do not interact well with each other and break apart under any external influence. Epidermolysis bullosa cannot be cured. There is no specific treatment for the pathology. Timely and adequate symptomatic therapy improves the general condition of patients.

Butterfly children are born into families whose members have a damaged gene. This usually happens in related marriages. Before dressing a sick child, his body must be wrapped with special bandages. Any touch leads to detachment of the skin and the formation of blisters that hurt and burst. In their place are ulcers and scars. As one wound heals, others appear. Sick children must be especially careful and absolutely clean.

Butterfly syndrome is a dermatitis that occurs in individuals with a genetic predisposition and manifests clinical signs immediately after the birth of a child. An insufficient amount of protein leads to a weak adhesion of the epidermis to the dermis. The skin becomes vulnerable and sensitive even to weak external influences. The resulting blisters itch and hurt. In such people, hair falls out in the lesion, nails are affected. Wound healing takes a long time and is painful. Children with severe forms of pathology lose their skin when passing through the birth canal and die immediately after birth. The remaining patients rarely live past the age of three. This is a turning point for this disease, as the skin of patients further begins to thicken, and clinical symptoms occur less and less. The disease occurs equally often among both newborn boys and girls.

Forms

Morphological forms of butterfly syndrome:

  • simple form manifests itself from the neonatal period and has a mild course. The size of the blisters ranges from a pea to a walnut. The skin around them does not swell and does not turn red. After opening the blisters with serous contents, the wounds heal quickly and without a trace. With age, the skin coarsens and thickens. Symptoms gradually disappear by 12-14 years of age. Most patients have hyperhidrosis of the hands and feet. The psycho-emotional and mental development of children is not disturbed. In the summer, the disease worsens.
  • Polydysplastic form- a more severe type of pathology. Blisters with blood, wounds and erosions appear on the skin of a sick child, which often rot and heal poorly. Nail plates are affected, atrophy of the fingers occurs, rejection of necrotic tissues and body parts. This form has a high mortality rate.
  • Dystrophic form found at birth. Bubbles as the body grows older spread throughout the body. Blisters with a bloody-serous fluid burst, erosions and ulcers appear in their place, and then rough scars. The mucous membrane undergoes dystrophic changes.
  • mixed form or Kindler's syndrome - intrauterine appearance of bubbles on different parts of the body. As the pathology develops, patients develop photosensitivity, pigmentation and atrophy of the epidermis, scars on the nail plates, and the mucous membrane of the digestive and excretory systems is affected. This is one of the rarest and least understood forms of butterfly syndrome.
  • Malignant form- lethal. Bubbles with hemorrhagic contents cover the entire body, periodically bleed and become inflamed. In patients, internal organs and bones are affected. Dysfunction of the digestive system develops. Secondary streptococcal infection leads to death of patients from sepsis.

The reasons

The main cause of the pathology is considered to be a spontaneous mutation of genes, which leads to a violation of the activity of certain enzyme systems of the skin. Pathological changes usually occur not in one gene, but in several at once. The causes of skin damage and blistering are: trauma, pressure, friction.

Pathogenetic links of the butterfly syndrome:

  1. damage to the structural proteins of the skin,
  2. violation of the relationship between cells,
  3. the formation of blisters with serous and hemorrhagic contents.

Currently, no other factors in the development of epidermolysis bullosa have been noticed or determined, except for unfavorable heredity. Usually, the genotype of the father or mother contains a mutated gene. In this case, the pathology in the body of the parents does not develop. A certain combination of affected genes leads to the development of butterfly syndrome in a child.

Symptoms

The main symptom of butterfly syndrome is blisters that appear on the skin. Usually they are filled with serous or hemorrhagic contents. Depending on the form of the pathology, the localization of the blistering rash changes.

  • The simple form is characterized by the appearance of blisters on the upper and lower extremities.
  • Borderline - the formation of blisters on the walls of the digestive and urogenital tracts. Ulcers and wounds appear on the skin, which leave behind rough scars. Internal organs and joints are affected. The patient's nails deteriorate and hair falls out.
  • Dystrophic - blisters on the limbs, more often in the projection of large joints: knee, elbow, shoulder. Patients have fused fingers and toes. This generalized form of pathology is accompanied by the development of small vesicles over a large area of ​​the body. The result of the opening of the bubbles is hyperkeratosis and dispigmentation of the skin.

The skin of sick children flakes off, flakes off and slides off like a snake's skin. She itches and hurts. Bubbles on the body burst. Ulcers and scars appear on hyperemic skin. In the future, the mucous membranes are affected, hypoplasia of the tooth enamel develops. Patients often bleed gums, teeth fall out. The nails are bent, deformed or atrophied. In severe cases, blisters form on the nasal mucosa and conjunctiva of the eyes. Butterfly babies are losing their hair. Clinical signs of the disease are most pronounced in children during the first three years of life. Then their intensity decreases, the skin gradually coarsens.

Complications of Butterfly Syndrome:

  1. shock with extensive lesions,
  2. secondary infection,
  3. sepsis,
  4. dehydration,
  5. narrowing or obstruction of the esophagus,
  6. stool disorder,
  7. proctitis,
  8. dysphagia,
  9. gastritis,
  10. keratitis,
  11. muscle dystrophy,
  12. caries,
  13. heart pathology,
  14. syndactyly,
  15. deformation of the nail plates.

Diagnostics

The most informative and reliable methods for diagnosing butterfly syndrome:

  • Examination of the patient's skin.
  • Collection of anamnesis of life and illness.
  • Urine and blood tests.
  • Diagnostic tests - exposure to the patient's skin and evaluation of the results.
  • Study using electron microscopy of skin samples taken from the lesion.
  • Indirect immunofluorescence is a blood test using monoclonal and polyclonal antibodies against pathogenic skin proteins.
  • DNA diagnostics determines the type of inheritance of the disease and the localization of the mutated gene.
  • Serological reactions are set for the purpose of differential diagnosis of butterfly syndrome and syphilis.
  • Comprehensive examination of all body systems.

All of the above procedures allow you to make a diagnosis of pathology with high accuracy.

Treatment

Butterfly syndrome is an incurable disease. Patients are given symptomatic therapy to improve the condition of patients and relieve pain. Patients are monitored by a team of doctors because epidermolysis bullosa is a systemic disease.

To save a sick child, it is necessary to properly care for him. Symptomatic treatment is aimed at rapid wound healing and epithelization of the skin. To do this, the wounds are covered with an atraumatic, non-adherent material and many layers of bandages.

Modern and promising methods of treatment include the use of stem cells, skin grafts, protein and gene therapy. These methods are currently still experimental, so butterfly syndrome is an incurable disease. Protein and cell therapy - the introduction into the body of protein and cells containing healthy genes.

bandaging a child with butterfly syndrome

To avoid another exacerbation of the pathology, it is necessary to choose the right clothes and shoes, avoid injury in any contact, follow a special diet, regularly visit a doctor and take preventive courses of treatment. The skin of sick children should be regularly washed and treated with an antiseptic. Children should be protected from falls and bumps. Before going outside, it is necessary to wrap the child's body with special bandages, and then put on clothes.

Perinatal diagnosis - primary prevention of butterfly syndrome. Burdened heredity requires a histological examination of the fetal biopsy. When planning pregnancy, it is necessary to clarify information about the presence of hereditary diseases in parents, to undergo genetic studies that will prevent the development of serious pathologies.

The prognosis of butterfly syndrome is mixed. The simple form has a benign course and does not threaten the patient's life. The life expectancy of such patients depends on the degree of damage to the skin and mucous membranes, as well as the general condition of the body. Regular supportive care allows people with Butterfly Syndrome to live a full life. The dystrophic form is characterized by the development of dangerous complications and high mortality. Severe forms of the disease lead to disability at an early age or death of newborns.

Video: about people with butterfly syndrome

Such children are called butterfly children, and if this gives rise to some beautiful associations, then this is an illusion. In fact, there is hardly anything beautiful about epidermolysis bullosa - its victims usually spend their whole lives in physical suffering, because their skin is no stronger than butterfly wings.

In Russia, doctors do not know how to help such patients and their treatment only makes things worse. This incurable disease is not even included in the list of rare diseases. Alena Kuratova, Chairman of the Board of the BELA Butterfly Children's Fund, told the Philanthropist correspondent about her work.

Alena Kuratova

This disease is not known to the general public...

Indeed, now very few people know what epidermolysis bullosa (EB) is, few people even pronounce this name. We ourselves learned about this disease around November last year, when a cry for help for a child with BE was heard on the Internet. I then was a volunteer, and we started to deal with this child. Doctors denied him as much as they could, because they did not know how to treat him, but how to approach him at all. We were looking for German doctors, clinics, specialists who could advise us. After some time, somewhere in December, they sent me a link asking for help for a girl with the same disease. At that time, I already knew that there are certain drugs and how to handle them in general. Then more such children began to appear, and it became clear to us that we needed to create a fund, an organization that would do all this centrally.

All over Russia from Moscow to Vladivostok and in the CIS countries there are such children. Everyone has the same problem: doctors do not know what to do with them, they can make a diagnosis only by eye, which is not always correct in terms of determining the subtype of this disease. At the moment, there are 2-3 children for each region, in some there may be only one. The rest either do not know at all that there are such children, or their mothers are hiding. And some children simply do not survive due to improper care.

Do you have any problems with fundraising because of the unknown of this disease?

Yes, in fact, there is a certain problem with fundraising, because the specificity of the disease is very severe. There is a very big problem with the presentation, since you can only imagine what it is visually, but such pictures are very difficult to post and show to people, because they cause a rejection reaction. Very strong. Because of this, allegories like “butterfly children” appear, which, perhaps, expresses the essence - the skin is like that of a butterfly, but does not give a complete picture of the disease. Again, to understand, you need to see. And people who give big money don't like such horrors. For example, if I show them a child who has skin only on his face and arms, and everything else is just solid ulcers. Understandable, right?

Firstly, they have been around for a long time, secondly, they have a board of trustees in the form of Chulpan Khamatova and her name, and thirdly, they have already promoted this topic well (helping children with cancer. - Ed.). I do not admit the thought that we can be somehow different. I also strive to make our fund large enough, because we have lifetime expenses for each child, that is, this child needs help all the time.

The amounts vary, because a neglected child, who is smeared with blue from birth and bathed in oak bark, turns into one continuous piece of wounds by the age of 3-4, and it costs a huge amount of money to bring him back to normal. But it is really possible, and if we spread information about the disease, if doctors and mothers know what to do with such children, then the amount for care will be reduced to a minimum. From birth, they need proper care, and there will be no consequences, as they are now. We have many stories of mothers on our site, and almost everyone writes that doctors do not know what to do and therefore cause a huge amount of harm.

What are you doing for them?

We are now running the Gift Basket campaign on a regular basis: we send huge boxes of medicines to all mothers of butterfly children. 25 children participated in the first action, now there are already 50 of them.

New "wards" appear weekly. We collect documents for them, after which medicines are also sent to them. Our campaign runs every 3 months. We do not cover all needs - this is impossible, but we provide a certain basic package of medicines that many mothers see for the first time. That is, their children are 12 years old, and for the first time in their lives they learned that this medicine can be applied - and nothing hurts. Then the mothers themselves begin to buy the necessary medicines and put the child in order.

We also provide great information support, we translate a lot of materials from foreign languages, now we have applied for membership in the international organization DEBRA, and we will be their representatives in Russia. We also work with doctors. We are close to an agreement with one clinic, where we plan to open a small department for our children, so as not to take them abroad. Now we are also looking for money to buy equipment for this clinic, because. a biopsy or genetic examination can only be done with special equipment; in Russia they do not do this anywhere. We also plan to train doctors, including a pediatrician, dermatologist, surgeon, orthopedist, gastroenterologist and nurse, whom we are ready to send either to Austria or Germany, so that these doctors can then help children here. There are also plans for a teleconference with a professor from Germany from the Epidermolysis Center in Freiburg.

Do parents send many of these children to orphanages?

It is very difficult with orphanages, because information about refuseniks is closed. Now we have 4 refuseniks, two of which we are leading, but we can’t get two of them in any way. To do this, you need to write a bunch of requests, raise volunteer organizations in the districts so that they can establish communication with the director of the orphanage. But even if we see refuseniks diagnosed with epidermolysis bullosa in the federal database, it is very difficult to get them out of there for help.

If you just touch these children, they begin to react. How can they possibly survive in an orphanage?

No way. Most of them die, but, thank God, almost all of our children are now with their mothers. The task is to inform the society and doctors in the regions that if such a child appears, there is no need to abandon him. This is a perfectly normal child. It just needs to be handled with care.

It is necessary to make sure that the mother in a state of shock does not abandon the child. And a shock may well happen: 3-4 days after the birth of a child, he is shown to his mother, he only has skin on his heels, everything else just slipped off like a snake's skin.

Can you shake hands with them or pat them on the shoulder?

They have the most difficult period - up to 3 years. With age, the skin coarsens, if, of course, proper care is taken. Small children try to crawl, they rip off everything on their knees, on their hands, if the child falls on his face, then half of his face is gone, the skin instantly becomes blisters and begins to peel off - this applies to a severe form. It is really impossible to shake hands with them like an ordinary person, even in adulthood. But as they get older, they learn to take care of themselves. After 3-4 years it becomes easier.

But there is such a moment: every day they experience a huge amount of pain, ranging from itching, which neither antihistamines nor anything else helps, ending with indescribable pain during dressings. Dressings are needed every three days, the child is wrapped up completely, treated with antiseptics, which are also pinched. Again, this is with a severe form of the disease; in mild form, this is not the case.

Impressive, right? These children, probably, like any other terminally ill child, are very special. They have unimaginable cosmic eyes, maybe from this pain that we are not destined to understand.

Do they even start families?

Yes, we have mothers who themselves are ill with EB, have given birth to children, and, unfortunately, they also have EB. There is a father with BE, and he has two healthy sons. This indescribable genetics, some very strange and very complex, gives out such incidents.

If a mild form of the disease, you can live in peace, work, give birth to children. If it is heavy, then children can often go skiing, play basketball. Children with EB abroad live a full life, go to school, go in for sports.

And why are you doing this?

Well, it somehow happened that at first there was our objector (I am still his curator), then a girl Lisa appeared, we did the maximum together with Rusfond to send her to Germany. It was from us that information reached Liza's mother that there are certain medicines of the 21st century, and not the 19th century, which they still lived on. Probably, I was imbued with these children and realized that I understand certain things better than doctors. It happens that I have to call the region, and when the doctor starts talking to me about bruising, I have to practically yell into the phone that it’s impossible, and I can tell you as needed, as possible, as necessary. It became clear that we have a team of like-minded people who are ready to pull this matter, and now we are making every effort so that sick children can live on a qualitatively different level. Well, then, I'm really interested.

This disease is not listed...

Yes, this disease is not included in the list of rare diseases - this is one of the areas of our work. But we can advance this topic when the number of such children is at least approximately clear. We have about a hundred of them in the fund now, but we need to know the statistics by region, in what condition the child is in each district. There is also such a moment that practically not a single medication that helps them can be prescribed by doctors for free. Moms come and say, for example, to a local dermatologist that there are medications that help and do not cause pain when removed. Those shrug their shoulders and say that they have a specific list where these drugs are not - goodbye! To change this situation is a big job for us in the long term.

If the government lists a disease as a rare disease, what will it bring?

It will be possible to conduct clinical studies and, on the basis of them, draw up a list of drugs that help. And then already - to apply for medicines to be included in this magical list. Children can get them for free. Monthly expenses, if the child is in a borderline, that is, more or less poor condition - 50 thousand rubles. They can be reduced to a minimum if the child is treated with the right medicines from birth. If mom knows that you can’t touch him with your fingers, but only with your palm, and a bunch of other nuances, then she will minimize these wounds and there will be no need to treat them.

How many such children are there in Russia?

There are statistics that one child with such a disease is born for every 50 thousand children, regardless of geography. If you calculate in this way, then in Russia there are a lot of them. However, with a severe form, I think, one and a half to two thousand children. But there are practically no official statistics in any country in the world, because the analysis is very expensive. Even in Germany, the statistics are very approximate.

Sum rub.

    Vereya

    These children need and can be helped, I don’t argue with the power of mother’s prayer, but THIS is not enough, I tell you as a doctor, and now it’s just an herbalist, both children and adults with burns to charring with ointment according to an old recipe from simple natural ingredients received a lot of real help, what is most interesting, the burn body temperature drops by 37.4 after 2 hours, and a new layer of pinkish delicate skin appears at the site of the burn for 5 days, this is a miracle, the mandrake root powder in the ointment relieves pain, the dressings are painless, I will share the recipe without commerce 89884111990

    Olga

    I recently met the mother of a butterfly child. This is a heroic woman! Optimistic, active, loving. And helps other families with children sick with this disease.
    By the way, she gave me a few bandages that have recently been produced in Russia. And then the import of imported something is limited, and expensive.
    So I want to say that we also do great!
    And self-locking (sticky) bandages cannot be compared with gauze. And medical dressings I was simply struck by the SilikoTul bandage - a silicone mesh that does not stick to the wound and you can apply medicine from above. I put it on an oil burn for a few days. Under the bandage, everything heals.

    And for people with skin like those butterfly babies, do you have any idea how important good dressings are? They can be skinned with ordinary gauze in a second! And where there is a knot - immediately like a bedsore, blisters and the skin also peels off ...

    I was just horrified at how they live!

    Hello! I am forty years old and I have epidermolis bullosa (BE) dystrophic, I want to ask if there are those who have issued a disability, are there any, is it possible? And yet, I can help with my experience in treating wounds.

    Centro de Medicina Bioenergetica Manos Milagrosas

    Epidermolysis bullosa is a disease of the internal organs, so trying to treat it with ointments is simply ridiculous. It is necessary to turn to healers, and not stupidly, for many years, listen to the recommendations of doctors who will never cure and do not even know where the cause of this disease is. Finally start thinking!

Probably, there was not a single person in the hall,

who would not start crying from the first minutes.

These children are called "butterfly children". Behind the beautiful name lies inhuman pain.

Little is known about epidermolysis bullosa. Rare genetic mutations cause blisters to form on the skin of young children, and any touch on them causes unbearable pain. Mom can't even hug her baby. The disease today is incurable, but with the help of proper care, suffering can be alleviated for the child.

The production of "The Butterfly Effect", directed by the team of Alexei Agranovich, those present in the hall of the Vsevolod Meyerhold Theater Center will never forget. All the action took place inside the barbed wire - this is how the “butterfly children” feel the world. There are projections of three people on the screen: an official, a doctor and a father. The first two calmly and detachedly talk about the fact that they already have enough work and can do nothing. The father who left the family (according to statistics, this happens most often), asks from the screen “Could you kiss your wife when your child does not stop screaming in pain behind the wall for a second?” And against this background - another video, famous Russian actresses from Ingeborga Dapkunaite to Daria Moroz - read aloud letters from their mothers. Probably nine circles of hell - nothing compared to one day in their lives. What they have not experienced: how children screamed when they were skinned alive, how they could not find or afford the right medicine, how unqualified doctors turned children into almost disabled people .. But, despite everything, these amazing women say that , even if they knew everything before their pregnancy, they would never have abandoned their children in their lives.

Photo Jan Coomans

Actor Vadim Demchog, who plays children, squatted down towards the end of the performance and quietly asked the question: “Why are we here?... Wouldn’t it have been better for us not to live and not be born?” The answer is no: in spite of everything, the thirst for life always lives in the sickest body. “I talked to people from the Bela Foundation, which helps sick children. And they said that children with this disease, I don’t know why, they are all very positive, cheerful and cheerful, ”actress Daria Moroz told us.

I really want this performance to be included in the permanent repertoire. So that as many people as possible know about this disease (poor awareness is one of the main problems, doctors rarely know how to make the correct diagnosis and cause unbearable suffering with the wrong treatment). And also, so that we forget about ourselves and our problems for at least a second. And the next time they would complain about skin problems and the inability to find a good beautician, they remembered these children. And the fact that the majority of talented specialists go to cosmetology, since it is possible to earn big money there. Meanwhile, no cure for epidermolysis bullosa has been found so far.

The state is almost not involved in the problem of these children - only recently bullous epidermolysis was included in the register of diseases. But in Russia there is the Bela Foundation, which helps "butterfly children". His work was supported by many actresses, public figures and Omega.

Actress and head of the Board of Trustees of the Bela Foundation Ksenia Rappoport:

“When I was approached by the Bela Foundation with a request to voice a fairy tale for sick children, I agreed, and a representative of the foundation came to me, she arrived in a very expensive car. I was immediately wary of what kind of fund for helping children, and she looked at me and said: “This is the only thing I have left from my past life.” Julia had a very happy, very prosperous life. And a child was born with epidermolysis bullosa... I didn't even know that this world of hopeless pain exists, where doctors prescribe potassium permanganate and brilliant green, knowing nothing about the disease, and in the first months they inflict unbearable suffering, so that the skin almost completely disappears. When I started crying, Yulia said: “What are you talking about, I still have a very good situation, I have a child who, at that age, is the only one in our country who has fingernails.” As scary as it is to realize, Yulia's story is a happy story. How can she be in such a situation. Some children only have skin on their heads, others do not have the money for proper dressings and bandages, and still others do not have information about what this disease is and what to do. According to our estimates, about 4,000 children in Russia have this disease, so far we have found only 200. But we really hope to find them all.

And finally, I’ll tell you a good story: when a surrogate mother had two children - one was healthy, the other was sick with epidermolysis bullosa. Parents decided to take home only healthy ones. Anton ended up in an orphanage, and he had no chance of surviving. But then fate intervened: Anton was adopted by an American couple, today the boy lives with them, he has a brother, who, as it turned out, was born with him in the same year and on the same day. Recently, we were sent pictures of him in which he looks very happy and almost healthy.”

Public figure Valery Panyushkin:

“I started community service to help children about 15 years ago. It is terrible to remember, but then it was impossible to find funding for children who had an incurable disease. People simply did not want to waste their time and money on those people who could not be helped. They didn't say it to my face, but everything was clear without that. Today, thank God, the situation has changed and the people who came to charity have changed. Today we understand: yes, these children cannot be saved, but this does not mean that they cannot be helped.”

Actress Daria Moroz:

“Lesha Agranovich, the husband of Vika Tolstoganova, called me and said that Ksenia Rappoport had become the head of the Board of Trustees of the Bela Foundation, which helps children with epidermolysis bullosa. This is a terrible disease that belongs to the category of rare, which has not really been studied in our country - when a child's skin leaves ... The disease is rare and incurable. He asked to participate in the fund's event - it was necessary to come to the evening and read the letters from the mothers of these children from the stage. I agreed. Naturally.

Although this genetic disease is rare, the state does not provide any benefits to mothers of their sick children, this disease is not studied, and there are no drugs to cure it. In Germany there are hospitals where they can provide proper care for sick children, while in our country the state turns a blind eye to this disease and a number of other rare diseases.

I came for the evening and when we read the letters of these mothers, my heart was breaking with pain. These poor women, often abandoned by their husbands, who fled, unable to participate, to see the suffering of children ... After all, babies cannot even be picked up, kissed, caressed - their skin immediately leaves. This disease is also called the butterfly effect. This is scary. How can we help? As media people, we can talk and write about this, draw attention to this problem in order to achieve the participation of people, the state in the lives of these families. Help is needed in dressing materials, in teaching mothers how to care for these children, how to cope psychologically in this situation. The Foundation does what it can to support these kids. Now, I hope, a department will be created at the hospital for these children. There were doctors-activists who are ready to study this disease, to treat it.”

Julia Tatarskaya (Omega):

Stefan Peter (Swatch Group), Yulia Tatarskaya (Omega), Ksenia Rappoport and Andrey Evdokimov (Omega)

“Last year, Ksenia became a Friend of the Omega brand in Russia. Since we, as a company, support a number of social projects, Ksenia asked us to support the Bela Foundation, the Russian branch of the charitable organization Debra International (http://www.debra-international.org). She became their trustee also last year. The foundation is very young and small. The Butterfly Effect is the second event they have held. But despite this, Debra International called them the most effective local fund among those who deal with the problem of EB.

Vera Kostamo

International Rare Disease Day is celebrated every four years on February 29, but this is no reason to forget about these people for the rest of the time. One child per 50 thousand born - such is the statistics for children diagnosed with epidermolysis bullosa. Only in 2012 this disease was included in the list of orphan diseases.

Romka-"butterfly"

- Give up! Romka glides across the smooth floor in croc slippers. In the hands of weapons from different eras: an ax and a machine gun. I groan and slowly sink down the wall. In war as in war. Romka disappears and looks out from somewhere behind the sofa.

I try not to move further than a few steps away from him in order to reach out my hands in time and not let the boy hit. Each small abrasion for Romka is a serious injury, the skin is so fragile that it can tear. He is a "butterfly child".

The stories of children with a rare genetic disorder, epidermolysis bullosa (EB), are similar. Healthy parents, a long-awaited child, a shock in the hospital, months in intensive care and an escape home.

“The daughter was immediately told to write a refusal from the child, that he would not live, they would not give him up. At that moment I worked in a children's clinic and, on the advice of doctors, we wrapped Stas in blankets and took him home. They simply stole it. They even sent an ambulance for us, but we didn't open the door…" (from mothers' letters to the BELA Foundation).

Romka was no exception. “My mother-in-law, a pediatrician with 40 years of experience, said that she had never seen anything like this,” Vera’s mother recalls.

We drink tea, I watch as Romka carefully dips the marmalade into the water to melt the sugar. The crust from the bread is cut off, the food should be soft so as not to harm the mucosa. All the time in special gloves or bandages - eat, play, draw.

“Now Romka is almost 5 years old, sometimes they ask on the street: “A real man, all bandaged, in wounds. And where did he make his way - through the bushes? ". I answer:" In life ... ", says my mother.

“The doctor immediately said that it was not curable. And in Russia there are no medical centers where such patients are treated, no research is carried out, there are no good medicines and dressings” (from letters from mothers to the BELA Foundation).

Vera takes out a large translucent plastic box. It can be seen that it is filled to the top with medicines. This supply is enough for only a few days of procedures. Romka obediently climbs onto the sofa, shows his hands, knees, back. In place of many times injured skin, a thin skin is formed. When hit or squeezed, where a normal child would have a bruise, Romka's bubble will instantly pop up. And if mom does not pierce it with a sterile needle in time, it will grow.

Families of "butterfly children" spend from 30,000 to 150,000 rubles a month on bandaging a child. The amount depends on the form of the disease.

"Zinc ointments for abrasions, gels for small wounds, epithelizing ointments for eroded surfaces, antibiotic ointments for infected areas, fatty ointments for drying crusts, moisturizing ointments for an uninjured skin surface, as well as ointments and gels for gums, antiseptics, 2- 3 types of painkillers, bandages, napkins, pads, atraumatic plasters, elastic and self-fixing bandages - this is just an incomplete list of everything that a "butterfly child" needs ... "(from mothers' letters to the BELA Foundation).

According to statistics, "butterflies" with a severe form of EB do not live up to 25 years. Previously, the treatment was reduced to one thing - it was filled with brilliant green or blue, bandaged, everything was soaked in the morning and the procedures began all over again. And so for ten years. In the end, a non-healing wound forms at this place. Then on weak places - a tumor. Everything ends with skin cancer.

Every teapot should be labeled "BELA"

Information about new medicines, the correct methods of bandaging came to Russia with the advent of the BELA Foundation (Epidermolysis Bullosa: Treatment and Adaptation). Legally, on March 1, the fund will turn two years old, and they have been operating since October 2010. For several years of the organization's existence, volunteers and employees of the foundation have ensured that BE is included in the list of orphan diseases, united the parents of "butterfly children" and made the problem visible.

Since February 2012, at the suggestion of the Foundation, BE has been included in the list of orphan diseases. Thanks to this, mothers finally stopped hearing that the disease is not on the list. Now, if desired, officials in the regions can allocate money for EB patients. Now the fund, together with the International Scientific and Practical Center for Dermatovenereology and Cosmetology, is engaged in a program aimed at allocating funds from the budget to provide Moscow "butterflies" with medicines.

DNA analysis of the main genes responsible for the development of most forms of BE, which is necessary for the appointment of adequate treatment, could previously be done only in Germany. From February 28 this year, it will be made in Russia.

“The Foundation invested in research work to search for mutations in genes,” says Alena, “If you come to a regular laboratory and want to be tested for epidermolysis bullosa, you will be run through 5 genes. The cost of such a study is about 450 thousand rubles. Now we have simplified task and with a referral from a geneticist, you can study the gene that is responsible for one or another form of BE and pay several times less. 30%.Unfortunately, it is not possible to cover all costs.Moreover, we cannot help parents who have lost a child and want to be examined."

For those families where there is a "butterfly baby", and parents want a second baby, the possibility of prenatal diagnosis has appeared. At the 10th week of pregnancy, an analysis is done, and at 12-14 weeks, the mother receives the results. One of the mothers says that, even knowing that the child is sick, they are still waiting for him. Someone, on the contrary, knowing what suffering awaits the baby, terminates the pregnancy. There is also embryonic diagnosis, but it is not done in Russia.

"Sasha was constantly in pain, he screamed so much that the neighbors knocked on our wall ... (from letters from mothers to the BELA Foundation).

Newly born "butterflies" have a chance to avoid deep disability, which children over seven years old have. This requires a system that works, for example, in Germany. When a foster nurse immediately visits a newborn with EB, teaches how to bandage, and observes the child.

“In order for white scars to remain instead of the “fingerprints” of the medical staff, it took us six months. Nastya has no other scars. All the nails that came off are from those wounds. present" (from mothers' letters to the "BELA" fund).

“The foundation’s position is to build something in Russia. You can send children abroad for treatment indefinitely, but then they return, and there is not even a rehabilitation system here,” continues Alena Kuratova. “We are building a patronage system for the entire country. Ideally, I would like to see patronage nurses in every region. Our goal is to have "BELA" written on every teapot. So that in any city they know that there is such a fund, and we can help."

We managed to overcome the absolute information vacuum around children with EB all these years. There are extracts from children's medical records, where doctors, after recommendations for treatment, suggest contacting the BELA Foundation.

“In the fall, a man from a small town near Ufa called me and said that his third daughter was born with EB, and he and his mother have been in the hospital for two months already. And the family wants to give up the girl. child. He asked what he should do. I advised him to take his wife and daughter home. And the foundation will teach how to care for the child. A month later, he sent us documents to register the girl in the foundation. Everything worked out, "says Alena.

The Foundation sends parcels with medicines to parents every month, consults around the clock by phone and Skype.

There are inexpensive remedies, for example, Branolind, which is used in burn practice. There are expensive ones from the manufacturer Molnlycke Health Care. The Fund is trying to purchase a sufficient amount of these drugs that come to Russia.

"Mom has money - the child is provided with dressings, there is no money - live as you can. It's scary when the money runs out ... completely ... and then your child screams in pain at night, tearing off the sheet or blanket stuck to them from the wounds, and during the day clothes stick to the body and again - pain and screams. Believe me, it's scary ... "(from mothers' letters to the BELA foundation).

Now the fund has 25 people and about 150 volunteers. For the most part, these are people from 25 to 35 years old.

“I really want to change the system. More precisely, create an opportunity in the system for people with EB to be there. Now they are not there,” says Alena.

The foundation plans to include a performance at the Maly Drama Theater in St. Petersburg, dedicated to people with BE, an educational multimedia program, work with the regions, a celebration in honor of the foundation's second anniversary, which will be attended by about 60 "butterflies".

bandaged reality

“He dreams about what is so natural for other children that they don’t even think about it. Without the help of loved ones, eat, write, draw, run, jump, go to school, ride a bike, skate ...” (from letters from mothers in BELA Foundation).

All blouses are seamed outward, shoes are only soft - we dress for a walk. Romka and I stomp down the street to the development center for kids. Whether Romka is worried, my mother and I do not know, but we are very afraid. Questions and explanations, children running and playing fast, other parents.

“It’s worth going outside,” everyone stares at my baby, morally it’s very difficult, especially when they constantly ask: what’s wrong with your child? (from mothers' letters to the "BELA" fund).

Romka, smart and well done, happy surrounded by children. When they push him and inadvertently hurt him, he only smiles. In general, during the months that I have known Romka, he never cried. Although he does not even know how it is to live without pain.

“No, I didn’t devote my life to her, rather, she became the meaning of my life. Without hesitation, I touch her correctly, I take the cannula with a firm hand and release the bubbles from the liquid. And I don’t cry. Never with her! She should only see mine smile! And like a spell, I say: soon, very soon, they will find this damn cure! (from mothers' letters to the "BELA" fund).

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