"Rare" patients: Why is the state program to support people suffering from orphan diseases "out of time"?
Today it is almost impossible to find a completely healthy person. Each of us is the "owner" of chronic diseases, allergies, and other ailments that we believe interfere with full life and cause a lot of inconvenience. But it is not for nothing that they say that everything is known by comparison, and to feel it to the fullest, let’s understand such a term as "Orphan diseases", and why, recently, began to pay more attention to this topic.
Orphan diseases are mostly genetic diseases, that is, those caused by mutations in our DNA. But, there are also diseases that are associated with some random events. The peculiarity of all these diseases is that they are incurable. They cannot be predicted, treated prophylactically and brought to remission. Treatment lasts a lifetime, and the cost of treatment is extremely high and sometimes unaffordable, even for high-income families.
Also, one of the biggest difficulties in buying drugs for treatment is that the drugs themselves are very few. Orphan diseases affect about 5% of the world’s population, respectively, drugs are not in high demand - few people create them, because the market is small. Of course, each of us is sure that he will definitely not enter this 5%, and this problem does not concern him. But believe me, if one of these diseases is found in someone close to us, this topic will be, perhaps, the most important for us. And unfortunately, none of us are insured.
And now let’s move on to the situation with orphan diseases in Ukraine. Many already have a number of pressing questions, such as: "What is the current situation with the treatment of patients?", "When to expect progress in funding and treatment, and where to start?", "What is the role of NGOs in this matter?". Tatiana Zamorskaya, the head of the Debra-Ukraine Center and a volunteer of the Dermatologists for Children public organization, will share her opinion on these issues.
Tatiana, please tell us about your story. Why did you decide to dedicate your time to the problem of orphan diseases?
My story is similar to the stories of many families with orphan children. The birth of a son in 2002 was a shock to our family. In my family and in my husband’s family, no one has ever suffered from anything serious, especially incurable. We have never heard that there are orphan (ie rare) diseases at all. There was a normal life - work-study-family-friends-travel. All of this collapsed when the child was diagnosed with "bullous epidermolysis (BE)" at the maternity hospital and the old professor said, "The prognosis is unfavorable," which meant "untreated."
Information about bullous epidermolysis in the Ukrainian Internet space was zero, let alone the situation in medicine. All I managed to find was the English-language website of the International Association for BE, where I read and saw a lot of photos. It was very hard to accept that this is your child and this is your life. Then came the realization of the depth of the problem: "Life is over, the good life is over… Our son has an incurable disease that is not treated anywhere, neither in Ukraine nor abroad ... And his condition will only get worse every day ... ».
We cried the first weeks, traveled the first year with a child to all traditional and non-traditional doctors. And they came to this conclusion: “Nobody knows how to help a child. Doctors can’t help. Nobody can help. So we will pull it ourselves, as our inner intuition will tell us. " And our clear attitude, with which we have been living for more than 15 years, is our child, we love him, so we will live and grow as we can. We will do everything in our power to provide him with everything he needs and we will do our best to make him grow up like other normal healthy children.
My husband and I had a hard time continuing our external "normal" lives - we both worked at a serious responsible job, made a career, worked full time and tried to earn money to provide for the child and solve the housing problem. At the same time, we hid the child’s illness at work, did not advertise it among friends. We tried not to strain our relatives who were healthy and happy with our problem - we did not want to darken their lives with our big problem - because for us the disease has become OUR LIFE forever!
The child grew up, the situation and life changed. There were other families with butterfly children who somehow began to find me. And in my life, the problem of "bullous epidermolysis" has become not only my personal problem, but our common problem with other families in Ukraine. Then came the realization - something needs to be done. We need to understand what is in other countries. It is necessary that there be doctors specializing in BE in Ukraine. We need a specialized center to help families with PE in Ukraine. We need a website, information, literature, scientific literature. It takes a lot, a lot of money to support bandages, medicines and nutrition for children with PE in Ukraine, you need to diagnose abroad and operate on your hands abroad until medical care is established at home in Ukraine. So in 2011, I have a dermatologist Lyudmila Andreevna Derevyanko, the idea arose to create the first public organization that will unite doctors and patients to help children with skin diseases in Ukraine. And every year, we went forward, solving one issue after another: made a website, opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. which will unite doctors and patients to help children with skin diseases in Ukraine. And every year, we went forward, solving one issue after another: made a website, opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. which will unite doctors and patients to help children with skin diseases in Ukraine. And every year, we went forward, solving one issue after another: made a website, opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else.
Office of bullous epidermolysis in Okhmatdet (Kiev)
When the conflict in Donbass began, prices for special bandages of foreign origin, which could not afford families in Ukraine - soared more than 3 times (!!!!) and became unavailable and for our family. And when, in connection with the complication of the disease - the cost of the son exceeded one million hryvnia per year (now more than 4 million per year) - we had a catastrophic situation. We understood that no job, mine, my husband’s, relatives, no support of good people - will be able to cover the financial costs of the child. We will quickly spend all our savings, sell the apartment, last a couple of years - what’s next? If there is nothing to bandage the wounds, in our case it is excruciating pain, sepsis and the worst ... which we did not want to think about.
All these factors drove us into a corner from which we needed to find a way out.
This outcome was a fateful meeting in April-May 2014 with parents of children with other orphan diseases, and the further establishment in August of the 14th Public Union "Orphan Diseases of Ukraine" . Rare in the world unite ... When patients with BE - 200 people in Ukraine - we are not heard or heard, but very weak. When the orphanists unite, our voice is strong and we can be heard.
Many thanks to Vladimir Vladimirovich Dudka, the author of the law on orphan diseases and all concerned officials in the Ministry of Health and doctors-experts on orphan diseases, without which in 2015-16. it would be impossible to "break through" the first state program to help BE, through which we - families with butterfly children - live and survive for the third year. The invaluable support of colleagues in the union - Tatiana Kulesha, Oksana Alexandrova, Larisa Voloshina and other parents of orphan children - was not a straw, but a reliable support in all difficult situations. Our diseases are different, but the problems are common, the same. We all love our children, we are few, we cannot cure them and we cannot provide for them financially. But if such patients are diagnosed in a timely manner, prescribed the right therapy and provided with the necessary drugs, products and medical nutrition - they can live, work, study, and be full members of society. In other countries, the state assumes the provision of such patients through social responsibility and social solidarity. We must fight and defend the rights and interests of our children and adult patients together and build on the European experience!
Many experts say that in recent years in our country finally appeared the first achievements that have significantly improved the quality of life of patients with rare diseases, and this is largely due to public organizations. Do you think there is really this progress?
I do not just believe, I am sure that without public organizations in Ukraine there would be nothing, no progress. All the achievements, all the purchases of drugs for orphan patients, which not only improved the quality of life of patients - but helped people survive, made their way and still make their way through the hard, daily work of parents of sick children. Ukraine does not have a system of integrated medical and social care for orphan patients. Such a system exists in other countries. We still have the first level - the struggle for drugs, nutrition, daily survival. Social services have not yet been reached. Patronage nurses, social workers to help, ramps, sanatoriums, hospices - for Ukrainian orphan patients while dreams and plans for the future for the orphan union.
Our public organization - IHO "Dermatologists for Children" ( Debra-Ukraine, The Center for Patients with BE) and other patient organizations that are members of the public association - Orphan Diseases of Ukraine - raised orphan issues at the state level, reached out to society, and continue to knock through all media in Kiev and the regions. Now, our patients talk about orphan diseases on television and radio, and we hold open meetings, round tables and conferences with doctors and officials with active parents. We participate in working groups at the Ministry of Health, local city and regional health, representing the interests of our patients. We make sure that drugs are purchased for patients, and that these drugs are of good quality with minimal side effects, because children and young people need to take them for life. I believe that we are doing real bottom-up health care reform. But, unfortunately, neither we nor the doctors understand what is being done upstairs in the Ministry of Health lately. Therefore, we have a task to force the state to fulfill the obligations provided by the Law on Orphan Diseases and European practice, namely: the creation of registers, free lifelong and continuous provision of orphan patients. All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… Therefore, we have a task to force the state to fulfill the obligations provided by the Law on Orphan Diseases and European practice, namely: the creation of registers, free lifelong and continuous provision of orphan patients. All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… Therefore, we have a task to force the state to fulfill the obligations provided by the Law on Orphan Diseases and European practice, namely: the creation of registers, free lifelong and continuous provision of orphan patients. All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard…
To date, there is no official state register of patients, no official statistics on orphan diseases, not all necessary drugs are purchased, and not even all diseases are included in the official list. In your opinion, where do you need to start in the first place?
No need to invent a bike. Everything has already been invented for us in other European countries, and this is what is already in the current law on orphan diseases № 1213 of 2014. This is what I have already mentioned - the approval of the National Plan-Strategy for Rare Diseases. Creation of a national register of orphan diseases, approval of the procedure for providing drugs, medical supplies, medical nutrition, creation of reference centers (specialized centers where narrow-profile doctors-experts in rare diseases can diagnose and prescribe the right treatment), etc. We have already developed concepts, prepared and submitted to the Ministry of Health draft regulations, and offer to participate in their finalization together with officials and doctors. But - so far there are no officials in the Ministry of Health who would deal with orphan problems. All deputies. ministers, on which the question on orphanniks descends safely from it "come down" ... Therefore the decision of important questions is now blocked at the top. But Water sharpens a stone ...
Tatiana, how long do you think the further process of reforms and the adoption of laws that would help solve these problems can take?
Without political will, it is impossible to solve systemic issues concerning orphan patients. The current leadership of the Ministry of Health does not consider orphan patients as an issue that needs to be addressed. "It’s not time," says Dr. Ulyana Suprun.
And for us - "on the clock", our children have a limited time resource. We cannot postpone the solution of the orphan issue until the reforms of the entire health care system, the whole country. Orphanniki - according to global statistics - 5% of the population. This is every 20 families with a patient with certain rare diseases and genetic mutations.
It is necessary not to postpone the solution of orphan problems, but to approve the strategy, and every day, step by step, to achieve the implementation of each point of the strategy. No one expects a quick solution to all problems. Finishes the fact that no one wants to start solving them and be responsible for the timing and implementation of even small steps on the way to a great goal ......
As we can see, the situation with patient care today does not look very optimistic. But the example of Tatiana Zamorskaya inspires us and makes it clear that you should always use every opportunity to the maximum, not to lose heart and continue to fight for your right to a healthy life. And even if you or your loved ones have a disease, the most important thing is not to think that you are alone and left to chance, because many public organizations and charitable foundations will be able to lend you a helping hand, you can always find people with similar problems that will be able to guide you in the right direction and support.
Author Anna Koznyuk
Orphan diseases are mostly genetic diseases, that is, those caused by mutations in our DNA. But, there are also diseases that are associated with some random events. The peculiarity of all these diseases is that they are incurable. They cannot be predicted, treated prophylactically and brought to remission. Treatment lasts a lifetime, and the cost of treatment is extremely high and sometimes unaffordable, even for high-income families.
Also, one of the biggest difficulties in buying drugs for treatment is that the drugs themselves are very few. Orphan diseases affect about 5% of the world’s population, respectively, drugs are not in high demand - few people create them, because the market is small. Of course, each of us is sure that he will definitely not enter this 5%, and this problem does not concern him. But believe me, if one of these diseases is found in someone close to us, this topic will be, perhaps, the most important for us. And unfortunately, none of us are insured.And now let’s move on to the situation with orphan diseases in Ukraine. Many already have a number of pressing questions, such as: "What is the current situation with the treatment of patients?", "When to expect progress in funding and treatment, and where to start?", "What is the role of NGOs in this matter?". Tatiana Zamorskaya, the head of the Debra-Ukraine Center and a volunteer of the Dermatologists for Children public organization, will share her opinion on these issues.
Tatiana, please tell us about your story. Why did you decide to dedicate your time to the problem of orphan diseases?
My story is similar to the stories of many families with orphan children. The birth of a son in 2002 was a shock to our family. In my family and in my husband’s family, no one has ever suffered from anything serious, especially incurable. We have never heard that there are orphan (ie rare) diseases at all. There was a normal life - work-study-family-friends-travel. All of this collapsed when the child was diagnosed with "bullous epidermolysis (BE)" at the maternity hospital and the old professor said, "The prognosis is unfavorable," which meant "untreated."
Information about bullous epidermolysis in the Ukrainian Internet space was zero, let alone the situation in medicine. All I managed to find was the English-language website of the International Association for BE, where I read and saw a lot of photos. It was very hard to accept that this is your child and this is your life. Then came the realization of the depth of the problem: "Life is over, the good life is over… Our son has an incurable disease that is not treated anywhere, neither in Ukraine nor abroad ... And his condition will only get worse every day ... ».
We cried the first weeks, traveled the first year with a child to all traditional and non-traditional doctors. And they came to this conclusion: “Nobody knows how to help a child. Doctors can’t help. Nobody can help. So we will pull it ourselves, as our inner intuition will tell us. " And our clear attitude, with which we have been living for more than 15 years, is our child, we love him, so we will live and grow as we can. We will do everything in our power to provide him with everything he needs and we will do our best to make him grow up like other normal healthy children.
My husband and I had a hard time continuing our external "normal" lives - we both worked at a serious responsible job, made a career, worked full time and tried to earn money to provide for the child and solve the housing problem. At the same time, we hid the child’s illness at work, did not advertise it among friends. We tried not to strain our relatives who were healthy and happy with our problem - we did not want to darken their lives with our big problem - because for us the disease has become OUR LIFE forever!
The child grew up, the situation and life changed. There were other families with butterfly children who somehow began to find me. And in my life, the problem of "bullous epidermolysis" has become not only my personal problem, but our common problem with other families in Ukraine. Then came the realization - something needs to be done. We need to understand what is in other countries. It is necessary that there be doctors specializing in BE in Ukraine. We need a specialized center to help families with PE in Ukraine. We need a website, information, literature, scientific literature. It takes a lot, a lot of money to support bandages, medicines and nutrition for children with PE in Ukraine, you need to diagnose abroad and operate on your hands abroad until medical care is established at home in Ukraine. So in 2011, I have a dermatologist Lyudmila Andreevna Derevyanko, the idea arose to create the first public organization that will unite doctors and patients to help children with skin diseases in Ukraine. And every year, we went forward, solving one issue after another: made a website, opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. which will unite doctors and patients to help children with skin diseases in Ukraine. And every year, we went forward, solving one issue after another: made a website, opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. which will unite doctors and patients to help children with skin diseases in Ukraine. And every year, we went forward, solving one issue after another: made a website, opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else. opened in 2013 the first specialized Cabinet for children with bullous epidermolysis in Okhmatdet, found a dermatologist, then a nurse, then a second dermatologist, formed the first multidisciplinary team of doctors - surgeon, nutritionist, combustiologist, anesthesiologist. Later, partners were involved - the Porcelain Dental Clinic and the Osteoporosis Center, which on a charitable basis began to provide highly professional care to our patients, which could not be provided anywhere else.
Office of bullous epidermolysis in Okhmatdet (Kiev) When the conflict in Donbass began, prices for special bandages of foreign origin, which could not afford families in Ukraine - soared more than 3 times (!!!!) and became unavailable and for our family. And when, in connection with the complication of the disease - the cost of the son exceeded one million hryvnia per year (now more than 4 million per year) - we had a catastrophic situation. We understood that no job, mine, my husband’s, relatives, no support of good people - will be able to cover the financial costs of the child. We will quickly spend all our savings, sell the apartment, last a couple of years - what’s next? If there is nothing to bandage the wounds, in our case it is excruciating pain, sepsis and the worst ... which we did not want to think about.
All these factors drove us into a corner from which we needed to find a way out.
This outcome was a fateful meeting in April-May 2014 with parents of children with other orphan diseases, and the further establishment in August of the 14th Public Union "Orphan Diseases of Ukraine" . Rare in the world unite ... When patients with BE - 200 people in Ukraine - we are not heard or heard, but very weak. When the orphanists unite, our voice is strong and we can be heard.
Many thanks to Vladimir Vladimirovich Dudka, the author of the law on orphan diseases and all concerned officials in the Ministry of Health and doctors-experts on orphan diseases, without which in 2015-16. it would be impossible to "break through" the first state program to help BE, through which we - families with butterfly children - live and survive for the third year. The invaluable support of colleagues in the union - Tatiana Kulesha, Oksana Alexandrova, Larisa Voloshina and other parents of orphan children - was not a straw, but a reliable support in all difficult situations. Our diseases are different, but the problems are common, the same. We all love our children, we are few, we cannot cure them and we cannot provide for them financially. But if such patients are diagnosed in a timely manner, prescribed the right therapy and provided with the necessary drugs, products and medical nutrition - they can live, work, study, and be full members of society. In other countries, the state assumes the provision of such patients through social responsibility and social solidarity. We must fight and defend the rights and interests of our children and adult patients together and build on the European experience!
Many experts say that in recent years in our country finally appeared the first achievements that have significantly improved the quality of life of patients with rare diseases, and this is largely due to public organizations. Do you think there is really this progress? I do not just believe, I am sure that without public organizations in Ukraine there would be nothing, no progress. All the achievements, all the purchases of drugs for orphan patients, which not only improved the quality of life of patients - but helped people survive, made their way and still make their way through the hard, daily work of parents of sick children. Ukraine does not have a system of integrated medical and social care for orphan patients. Such a system exists in other countries. We still have the first level - the struggle for drugs, nutrition, daily survival. Social services have not yet been reached. Patronage nurses, social workers to help, ramps, sanatoriums, hospices - for Ukrainian orphan patients while dreams and plans for the future for the orphan union.
Our public organization - IHO "Dermatologists for Children" ( Debra-Ukraine, The Center for Patients with BE) and other patient organizations that are members of the public association - Orphan Diseases of Ukraine - raised orphan issues at the state level, reached out to society, and continue to knock through all media in Kiev and the regions. Now, our patients talk about orphan diseases on television and radio, and we hold open meetings, round tables and conferences with doctors and officials with active parents. We participate in working groups at the Ministry of Health, local city and regional health, representing the interests of our patients. We make sure that drugs are purchased for patients, and that these drugs are of good quality with minimal side effects, because children and young people need to take them for life. I believe that we are doing real bottom-up health care reform. But, unfortunately, neither we nor the doctors understand what is being done upstairs in the Ministry of Health lately. Therefore, we have a task to force the state to fulfill the obligations provided by the Law on Orphan Diseases and European practice, namely: the creation of registers, free lifelong and continuous provision of orphan patients. All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… Therefore, we have a task to force the state to fulfill the obligations provided by the Law on Orphan Diseases and European practice, namely: the creation of registers, free lifelong and continuous provision of orphan patients. All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… Therefore, we have a task to force the state to fulfill the obligations provided by the Law on Orphan Diseases and European practice, namely: the creation of registers, free lifelong and continuous provision of orphan patients. All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard… All this is called in other countries - the National Plan - a strategy for rare diseases. Such programs and strategies exist in all European countries, but still do not exist in Ukraine. There is no alternative, and we continue to defend this issue in the Ministry of Health, we have prepared and submitted several draft regulations. But we need to be heard…
To date, there is no official state register of patients, no official statistics on orphan diseases, not all necessary drugs are purchased, and not even all diseases are included in the official list. In your opinion, where do you need to start in the first place?
No need to invent a bike. Everything has already been invented for us in other European countries, and this is what is already in the current law on orphan diseases № 1213 of 2014. This is what I have already mentioned - the approval of the National Plan-Strategy for Rare Diseases. Creation of a national register of orphan diseases, approval of the procedure for providing drugs, medical supplies, medical nutrition, creation of reference centers (specialized centers where narrow-profile doctors-experts in rare diseases can diagnose and prescribe the right treatment), etc. We have already developed concepts, prepared and submitted to the Ministry of Health draft regulations, and offer to participate in their finalization together with officials and doctors. But - so far there are no officials in the Ministry of Health who would deal with orphan problems. All deputies. ministers, on which the question on orphanniks descends safely from it "come down" ... Therefore the decision of important questions is now blocked at the top. But Water sharpens a stone ...
Tatiana, how long do you think the further process of reforms and the adoption of laws that would help solve these problems can take?
Without political will, it is impossible to solve systemic issues concerning orphan patients. The current leadership of the Ministry of Health does not consider orphan patients as an issue that needs to be addressed. "It’s not time," says Dr. Ulyana Suprun.
And for us - "on the clock", our children have a limited time resource. We cannot postpone the solution of the orphan issue until the reforms of the entire health care system, the whole country. Orphanniki - according to global statistics - 5% of the population. This is every 20 families with a patient with certain rare diseases and genetic mutations.
It is necessary not to postpone the solution of orphan problems, but to approve the strategy, and every day, step by step, to achieve the implementation of each point of the strategy. No one expects a quick solution to all problems. Finishes the fact that no one wants to start solving them and be responsible for the timing and implementation of even small steps on the way to a great goal ......
As we can see, the situation with patient care today does not look very optimistic. But the example of Tatiana Zamorskaya inspires us and makes it clear that you should always use every opportunity to the maximum, not to lose heart and continue to fight for your right to a healthy life. And even if you or your loved ones have a disease, the most important thing is not to think that you are alone and left to chance, because many public organizations and charitable foundations will be able to lend you a helping hand, you can always find people with similar problems that will be able to guide you in the right direction and support.
Author Anna Koznyuk