Wings for a butterfly: how patients with epidermolysis bullosa live in Russia
More than 1.5 thousand children and adults with epidermolysis bullosa (EB), a rare orphan skin disease, live in Russia. Even 15 years ago, such patients remained virtually invisible to the healthcare system, which turned their lives into a daily struggle for survival. Over the past decade and a half, the situation in the country has been changing qualitatively: through the efforts of the Butterfly Children Foundation and government agencies, a system of assistance to "rare" patients and their families has been built. See the Izvestia article about how the synergy of NGOs and government institutions has turned an incurable diagnosis into a controlled medical task.
The Genetic Lottery
Epidermolysis bullosa is based on a genetic mutation, which disrupts the production of proteins in the body responsible for the adhesion of skin layers to each other. As a result, its durability is critically reduced: any mechanical impact, whether it's a hard seam on clothing or a friendly hug, can lead to injury. Because of this special vulnerability of the skin, patients are figuratively called butterflies, because the wings of real butterflies also do not tolerate careless touches.
— The Butterfly Children Foundation appeared not because I wanted to do charity work, but out of acceptance of personal responsibility and purpose. Everything that was created next became a continuation of this path," Alyona Kuratova, head of the foundation, told Izvestia.
The mutation leading to EB is either inherited from parents or occurs spontaneously during intrauterine development. Consequently, a "butterfly" child can be born in any family, and conventional prenatal screenings will not "see" the disease.
— Standard screening is aimed at identifying the most common congenital pathologies in the fetus. Orphan diseases are so called because they are extremely rare, less than in one case per 10,000 births. In addition, there are several thousand of them in total, it is impossible and pointless to check the fetus for each one. It makes sense to do a targeted study for certain mutations only if there are already cases of a specific genetic disease in the family," Yulia Kotalevskaya, an expert at the Butterfly Children Foundation and a geneticist, explained to Izvestia.
Today, epidermolysis bullosa remains an incurable diagnosis, but this does not mean that the patient cannot be helped. Proper care, the use of atraumatic bandages that work as a "second skin" and suitable care products, as well as regular medical supervision significantly improve the quality and life expectancy of "butterflies".
The price of ignorance
Epidermolysis bullosa is a disease with many subtypes and course variants: from superficial and local lesions of the extremities to generalized forms, when wounds form throughout the body in deep layers of the skin and heal with the formation of coarse scars. Severe forms of the disease affect, in addition to the skin, also the mucous membranes, leading to pathologies of the gastrointestinal tract, genitourinary system and other organs. Without specialized care, this quickly leads to multiple complications and early disability.
15-20 years ago, there were no uniform protocols for managing patients with this diagnosis in Russia. Medical care was fragmented, and the process of making a correct diagnosis could take months. Not understanding the specifics of the disease, doctors and parents used care methods that did not treat, but aggravated skin injuries.
The lack of a systematic approach led to the early development of severe, life-threatening conditions. The patients had finger fusion, joint contractures that limited mobility, and narrowing of the esophagus. The most dangerous complication is aggressive skin cancer: by the age of 35, up to 67% of patients with the most severe, dystrophic, form of epidermolysis bullosa face it.
Dentistry was a separate pain for the "butterflies". Vitamin D deficiency, carbohydrate—rich blended food, the inability to ensure proper oral hygiene - all this leads to the fact that the teeth of the "butterflies" are rapidly deteriorating, and limited dental access due to scars and fragile mucous caused dentists simply did not know how to work with such patients.
From targeted solutions to an ecosystem
The situation has been systematically transformed since 2011, when the Butterfly Children Foundation began operating in Russia. In 15 years, the charity has gone from providing targeted assistance to creating a large-scale ecosystem that implements 16 support programs. The foundation's experts guide the wards at every stage of life, integrating medical, social, legal and psychological tools into a single network.
The most important factor in the birth of a "butterfly" is time: the sooner the child begins to receive competent medical care, the longer it will be possible to avoid complications.
"Today, the mechanism of interaction with the medical community is so well—established that the family of a newborn "butterfly" comes to the attention of the foundation in the first days, and sometimes even hours of life," Olga Orlova, an expert at the Butterfly Children Foundation, a dermatovenerologist, told Izvestia.
She added that experts remotely consult regional doctors, helping with accurate diagnosis, and a foster nurse travels directly to the family. She trains parents in nursing and brings a "newborn box" — a complete set of specialized products for the first months of life. From that moment on, a psychologist starts working with the family, helping them cope with the shock of the diagnosis.
The problems of orphan patients cannot be overcome by private efforts, and the Butterfly Children Foundation has been doing a lot of work over the years to involve government agencies in their solution. There are offices in federal medical institutions where "butterflies" can receive inpatient treatment. In a number of regions, the provision of bandages for wards has begun at the expense of local ministries of health.
Since 2022, the Circle of Goodness Presidential Foundation has started purchasing the most expensive medical products for patients with dystrophic EB, as well as drugs for gene therapy. Thanks to this support, a child born with EB today and one born 20 years ago have fundamentally different life scenarios.
Today, children with this diagnosis get a chance to live as fully as possible. They study in regular schools, communicate with their peers, make plans for the future and realize their dreams without being trapped in four walls due to complications.
Coming out of the social shadow
Over time, it became obvious that the condition of a child with a severe diagnosis directly depends on the psychological and resource state of his mother. The birth of a baby with disabilities inevitably changes the trajectory of the whole family's life, but the main impact is borne by the woman. Care traditionally falls on the shoulders of mothers, which effectively removes them from social and economic life. Their professional ambitions and personal plans remain unfulfilled for years, and constant stress and social isolation lead to burnout.
The answer to this challenge was the Rare Women project, launched by the foundation in 2022. His mission is not just psychological support, but full—fledged social and professional rehabilitation of "rare" mothers. The project helps women regain a sense of self-worth, regain lost competencies, and break out of the vicious circle of illness care.
The scale of the problem turned out to be so significant that in 2024, 11 more orphan funds joined the initiative. In 2025, the Rare Women project has grown into an autonomous non-profit organization that will help mothers of patients with rare and severe chronic diseases throughout Russia.
"A woman should not belong to the diagnosis of a child, a woman should belong to herself," Alyona Kuratova, head of the Butterfly Children Foundation and Rare Women NGO, said in a conversation with Izvestia.
The results of the project have a socio-economic impact: more than 90% of the participants reported an improvement in their quality of life, 75 women have completed professional retraining, and more than 20 have already started their own business or entered the labor market.
Victoria Klyuchnikova became one of the examples of how the project brings "rare" mothers back to active life.
— I devoted many years to caring for my child, and when he grew up, I realized that I was ready to expand my range of activities and opportunities. Thanks to the Rare Women project, I was trained and qualified as a tour guide. Today I take people hiking in the mountains, along the most beautiful routes. The nature around Sochi, where we live, is amazing, and I am happy to share this beauty with others," she told Izvestia.
Everyday life of the butterfly
Victoria's 11-year—old son, Yura, is a "butterfly" and has been a ward of the foundation almost since birth. The day in the Klyuchnikov family starts at 06:00. Even the simplest hygiene procedures turn into a complex process. Due to the fact that Yura's palms and fingers are constantly bandaged, he cannot wash or brush his teeth on his own: bandages cannot be wetted. Mom has to come to the rescue. Yura can only eat soft food. Meat, fruits, and any solid foods have to be ground in a blender. After a meal, it is mandatory to take a whole list of vitamins and medications.
Despite the circumstances, Yura studies at a regular municipal school. To minimize the risk of injury, the learning process had to be adapted. There are only notebooks and a pencil case in his briefcase, and we managed to come to an agreement with the teachers: all textbooks are kept in the classroom, and Yura has a second set for homework. The most difficult part of the day comes in the evening — the daily dressing.
— On average, it takes at least three hours, — says Victoria. — Because of this, there is simply no time for additional clubs and sections. To make the process easier, we purchased a special medical couch and allocated several cabinets for supplies. We have a real warehouse of bandages and ointments at home.
Maintaining this "warehouse" requires about 200 thousand rubles per month. Due to the fact that most of the bandages are provided by the Ministry of Health and the Circle of Goodness, the monthly financial burden on the family has significantly decreased. This was a fundamental change for the family: the Klyuchnikovs were able to focus not on finding money, but on the development of the child.
The misunderstanding and strong attention of others, especially from children, remains difficult for Yura. Because of the visible manifestations of the disease, he is shunned, and it hurts a lot. And yet, despite the difficulties and limitations, there are victories in Yura's life. The biggest one for today is that the boy has managed to make friends, feel like part of a team, and learn how to build relationships with his peers on equal terms.
On a national scale
The accumulated expertise allowed the Butterfly Children Foundation to move on to developing system solutions that are gradually being integrated into public health today. This was greatly helped by the development of its own medical information system, the Registry of Genetic and Other Rare Diseases.
The registry accumulates and systematizes more than 1,700 clinical and social parameters for each patient and is currently the world's largest database on epidermolysis bullosa. This data is used not only for building individual care routes, but also for making government decisions on procurement for patients, in developing standards of care, scientific work, and the development of innovative medical products as part of import substitution.
The foundation's medical experts also participated in the development of additional professional education programs on rare genetic skin diseases for the continuing medical education system. Thus, it was possible to help improve the professional training of approximately 13 thousand specialists over the years. Field patronages to the regions, including training of local doctors and mid-level medical staff, remain an important part of educational activities. All this helps to reduce the gap between the level of assistance in federal centers and in the regions.
Another step in this direction was the creation of a network of gene dermatosis centers, a format developed by the foundation and integrated into the CHI system. In such centers, patients with EB and other severe chronic skin diseases receive all the necessary medical and social care on a one-stop-shop basis. There are 12 such centers operating in Russia today, and another one has been opened in Tashkent, becoming the first such institution in Central Asia.
A separate achievement of the joint work of the foundation and the state was the organization of gene therapy for patients with dystrophic EB with a drug purchased by the Circle of Goodness Foundation, which would not have been possible without the registry data. 59 children and adolescents have already started receiving treatment this year, and the program will be expanded to 12 more patients in 2026.
Growth zones
Despite significant progress in the field of care for patients with epidermolysis bullosa, there are still unresolved tasks.
The first of them is the lack of stable support for adult patients. Upon reaching adulthood, many government support measures cease or become fragmented. In the adult segment, there are no specialized support programs, a single follow-up route, and a clear division of responsibility between medical institutions.
— As a result, patients after the age of 18-19 often find themselves out of the spotlight and are forced to build care on their own with the support of the foundation. At the same time, the disease does not recede, on the contrary: due to the cumulative effect of complications on the body, the condition worsens," the foundation shared with Izvestia.
The second problem is the separation of medical, social and educational care. Even with medical supervision, the issues of medical and social expertise, technical means of rehabilitation, education, employment, psychological and palliative care are poorly interconnected. Universal government mechanisms do not take into account the specifics of rare diseases well: the formal approach of the ITU, the unadapted environment in hospitals, and the lack of readiness of schools and employers for individual conditions.
— Patients are formally considered well-off, but in fact they find themselves limited in access to a full-fledged social life. Families and the foundation have to literally "assemble" the care system manually, which increases the workload, increases burnout and reduces the quality of life of patients," the Butterfly Children told Izvestia.
The third problem is the high social vulnerability of mothers raising children with rare diseases. For many years, women have been taking over the round—the-clock care of the disease - care, medical procedures and interaction with the system, while practically falling out of professional and social life. The lack of solutions aimed at preserving and restoring the social role of mothers leads to burnout, financial instability and a decrease in the stability of the entire family.
The foundation said that they consider these problems as a systemic challenge that directly affects the effectiveness of the child's treatment. They plan to answer them through systematic work with the state and the Rare Women project, aimed at the social and professional rehabilitation of mothers and their return to the country's economy.
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