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- Without even knowing it: how doctors in the regions are taught to work with rare patients
Without even knowing it: how doctors in the regions are taught to work with rare patients
Several Russian charitable foundations have programs in which experts travel to the regions to work with both patients and local specialists. The main thing here is rather not the first part (although it is extremely important), but the second — regional doctors are taught to work with people who have special needs. The programs were born, as the foundations explain, against the background of a huge gap in the quality of care between Moscow and the rest of the regions — even a couple of hours away from the capital, local doctors could not help their patients with orphan diseases due to lack of experience. How specialists in Russia are taught to work with rare patients and how deep the problems remain — in the material of Izvestia.
How the Regional assistance program works
The Good Doctor program was launched by the Important People Foundation, which helps children with spinal muscular atrophy (SMA) at the end of 2022. According to Anastasia Baykina, director of the foundation, the project was born because families in the regions faced serious systemic problems in receiving assistance.
— The main thing that caught my eye was the huge gap in the quality of care. Even a couple of hours away from Moscow, we found children in serious condition," she said.
The state has made a huge step forward in the treatment of children with SMA: they receive expensive pathogenetic therapy. However, this is not enough — the child needs constant competent support, the Izvestia interlocutor emphasized. Therefore, it was decided to send teams of federal specialists to the regions.
Initially, the program was intended for subjects where the most children with neuromuscular diseases live. But now the regions come with the request themselves — through the main freelance neurologists, palliative services, and parents. Experts have already visited 14 regions of the Russian Federation.
Two tasks are being solved simultaneously. The first is that children receive federal—level assistance. There are usually six specialists in the team: from a neurologist to a rehabilitologist. For two days, the child is consulted by all the team's specialists, after which the experts give detailed recommendations to the attending physicians on further medical support and possible routing.
The second task is to work with the local medical community. For this purpose, a School of neuromuscular diseases is being held: a course of lectures on modern approaches to treatment, features of respiratory support and rehabilitation of children. Regional doctors are usually present at the appointments.
— A separate area is the training of parents in basic home rehabilitation, as well as the selection and design of rehabilitation equipment, — Anastasia Baykina clarified. — For example, in most cases, respiratory support devices and other TSRs are used incorrectly, which directly affects the child's condition.
The head of the foundation called the main result of the "Good Doctor" program the building of horizontal links between regional specialists and leading federal experts, which fundamentally changes the level of assistance in the regions. As a continuation of the project, the Neuromuscular Diseases Competence Center is now being launched on the basis of the National Medical Research Center for Children's Health.
Why such assistance is necessary for the regions
Various NGOs have similar programs, including the Butterfly Children Foundation, which works with people with rare skin diseases. Victoria Polenova, head of the Department for the development of scientific projects at this charitable foundation, a lecturer at Roszdravnadzor's VNIIMT Federal State Budgetary Institution, noted that counseling programs appeared as a response to a systemic problem faced by patients: for a long time there was not sufficient expertise, routing and, in general, understanding of how to work with such diseases in the regions.
— Primary care doctors often did not recognize them, the diagnosis was delayed for years, and after diagnosis, patients were virtually left without systemic support. Patronages cover several tasks at once: firstly, it is the transfer of expertise to the field; secondly, assistance in building patient routing and implementing standards of care; thirdly, it is direct work with patients," she told Izvestia, adding that this approach is the first step to help It has become available not only in federal centers, but also at the place of residence.
In turn, Irina Myasnikova, Chairman of the All—Russian Society of Rare Diseases, clarified that, in general, the situation with the training of doctors and the awareness of medical staff about orphan diseases began to change qualitatively relatively recently - in the last two or three years. And to a large extent, the efforts of patient organizations and representatives of the Circle of Goodness Foundation contributed to this.
— We annually hold several webinars and visiting conferences for doctors, including at large regional medical centers. Now the centers themselves are taking the initiative to hold such conferences, exchange experiences, and are always happy when geneticists and healthcare organizers come to them," she said.
Due to this, according to the expert, the difference in the experience of doctors from federal and regional centers has recently begun to decrease.
The issue is also being resolved at the state level. The Ministry of Health of the Russian Federation informed Izvestia that the training of health workers, including primary care workers, is carried out through advanced training programs and the development of interactive educational modules on the portal of continuing medical education. There are currently 131 advanced training programs on the portal for the diagnosis and treatment of rare hereditary diseases, including orphan diseases. There are also 12 interactive educational modules on the issues under consideration, which in 2025 were mastered by more than 10,000 medical workers.
Today, doctors are beginning to recognize diseases, to penetrate deeply into their essence, and patients are observed locally, rather than centrally, said State Duma Deputy, Academician of the Russian Academy of Sciences, President of the National Research Medical Center of Pediatric Hematology, Oncology and Immunology. Dmitry Rogachev of the Russian Ministry of Health, Alexander Rumyantsev. Currently, there are more than 30 thousand patients in Russia who are provided with orphan-dependent treatment technologies in all regions of the Russian Federation.
Professional communities, including the National Association of Experts on Rare Diseases, are engaged in training doctors on new achievements in the field of molecular diagnostics, genetics and immunology, the source added. Conferences and educational events are being held for regional specialists, and the Orphascope digital platform has been created: it is a system with artificial intelligence elements for doctors, where they can get to know the symptoms of rare diseases online, find out how they are treated, understand in detail the algorithms for diagnosis and care, and find out which specialists and contact the centers.
However, the process of saturating regions with information is uneven: the system of consulting for local doctors and improving their skills "remains the most sensitive area in healthcare in general," Irina Myasnikova emphasized.
"There are regions where medical care is organized at a high level," Vladimir Kretov, an intensive care physician and acting head of the Intensive Care Unit at the National Research Medical Center for Children's Health of the Russian Federation, confirmed in an interview with Izvestia. — However, this practice has not yet become widespread. We still face a shortage of competencies, resources and, most critically, a lack of interest from local specialists.
This work cannot be structured in a directive format: it is very important to establish feedback and bilateral interest, he is convinced.
At the same time, Jan Vlasov, co—chairman of the All-Russian Union of Patients, said that the inability to recognize orphan diseases and the fragmented care system in a number of regions is not a matter of "bad" or "good" doctors.
— Rare diseases are, by definition, a limited practice. A doctor in the region may encounter only a few such patients in his entire career," the Izvestia source explained.
There are other objective reasons for this: budget and organizational specifics. According to Yan Vlasov, the system works best where clear regulatory documents are adopted at the regional level: patient routes, diagnostic and treatment algorithms are prescribed, responsibility is distributed between levels of care. And where this is not the case, the system malfunctions.
How patronage projects evolve
An interesting example of working with rare diseases, according to Yan Vlasov, is the project "Institute of an authorized public expert on cystic fibrosis", which helps regional specialists. This project builds on the experience of a similar initiative in the field of multiple sclerosis: many years ago, through systematic work with regions, it was possible to equalize the availability of therapy and change the approach to organizing care for such patients.
"The authorized public expert here is not a supervisor, but an assistant and mediator: a person who collects patients' problems, understands doctors' difficulties, and builds a dialogue with regional health authorities,— the source told Izvestia.
At the same time, patronage projects themselves often grow into something more: for example, the advisory programs of the Butterfly Children Foundation led to the creation of centers for genetic dermatoses. There are already 14 of them across the country.
— Patronages have shown that one—time visits and training are an important but insufficient tool: without a system infrastructure on the ground, the effect is limited. The logical step was to create a sustainable model, namely regional centers that operate on an ongoing basis. This is how the foundation has developed and implemented a model of gene dermatosis centers (CGD), which it implements jointly with the Ministries of health of the constituent entities of the Russian Federation," explained Victoria Polenova.
The centers are being opened on the basis of state medical institutions: new competencies are being integrated into the existing healthcare system.
"There have been noticeable changes where they already work: the availability of care has increased, the number of referrals to federal centers has decreased, specialists have a better understanding of the specifics of diseases and the needs of patients," the representative of the foundation emphasized.
Helping not only the rare
However, it's not just "rare" patients who need help. The Road of Life Charitable Foundation has a similar patronage project, the Medicine Together program, which promotes social institutions for children with special needs.
— Such institutions are located far from large medical centers. Sometimes the distance to the nearest clinic with the necessary specialists is 200-500 km. At the same time, dozens and hundreds of children live in such institutions, many of whom have complex and combined diagnoses and need regular medical care. It can be extremely difficult to arrange for them to be constantly monitored by specialized doctors," said Anna Kotelnikova, director of the foundation.
The project also went from visits for the needs of young patients, when diagnoses were clarified, treatment was adjusted, and plans for operations and rehabilitation for specific children were drawn up, to building a full-fledged care system, because after one-time visits, the child returned to the same unchanging environment and the result turned out to be temporary.
— Now the program is aimed at creating a sustainable model of helping children with special needs. Experts conduct a medical assessment, form treatment and rehabilitation routes. But at the same time, the environment around the child is being analyzed so that it gradually changes," the Izvestia interlocutor explained.
The first stage of the program is always a comprehensive assessment of the situation in the region and specific institutions, explained Natalia Malysheva, head of the Medicine Together program.
— It happens that we go to a distant region and think that everything will be difficult with medicine there, but in the end we find a resource institution and a resource ministry that are ready to change, absorb our experience, and train employees. This was the case, for example, with the Amur Region," she noted.
The second stage of the program is the work of field teams, which include doctors of the necessary specialties. Then, specialists remotely accompany the implementation of recommendations and consult on complex cases, and solve difficulties with institutions and monitor compliance with the received assignments.
The last stage is the full implementation of new child care and assistance practices, employee training, and consolidation of changes at the regional level.
— This year, we will help to conduct medical examinations in social institutions in the "hand in hand" format — our experts will team up with regional doctors. This will allow not only to solve medical issues more effectively, but also to transfer the experience gained over the years of traveling to different cities and institutions," said Anna Kotelnikova.
But the most important thing is not to lose "tools, routes and system solutions," the main thing is to have a living person next to the child who will notice, support and not pass by, she stressed.
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