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Patients with Fabry disease die prematurely as a result of cardiac, nephrological and neurological complications. – Each subsequent month, year without refund is a death sentence for us. 18 years of waiting is definitely too long, it is a violation of the rights of patients, people and citizens – appeals to the minister of health the president of the Association of Families with Fabry’s Disease, Anna Moskal.
The lack of treatment availability for this group of patients is an incomprehensible neglect of our medical care system – emphasizes Prof. Jarosław Sławek – president of the Polish Neurological Society. The health of patients with Fabry disease in Poland is treated in terms of a budget burden, financial plans and limitations multiplying endlessly for a long time – adds Prof. dr hab. n. med. Michał Nowicki, post-president of the Polish Nephrological Society. Poland is the only country in the EU that refuses to reimburse treatment for patients with Fabry disease.
Fabry disease is one of the few rare diseases that can be successfully treated by supplying the patient with the missing enzyme. Treatment has been available for many years in all EU countries – except Poland. In Poland, Fabry patients continue to die as a result of complications from this disease, although proper treatment could stop its progression. If only it was refunded.
– I do not recall any other group of patients having to wait so long for a health and life-saving therapy! The more that there are about 100 patients with Fabry in Poland. Each subsequent reimbursement list without enzyme replacement therapy in the treatment of Fabry disease is a death sentence for us – emphasizes Anna Moskal, president of the Association of Families with Fabry Disease. – More than 15 years have passed since we started efforts as an association to facilitate access to effective treatment of Polish patients with Fabry disease and 18 years since enzyme replacement therapy was registered in the EU. At that time, we had 10 governments, 8 prime ministers and 10 health ministers, and none of the latter has dealt with the enormity of the suffering of patients with Fabry disease. As patients with a rare disease, we are constantly neglected and pushed to the margins of social life in Poland, adds Moskal.
Fabry disease is a rare lysosomal disease that affects many organs, especially the kidneys, heart, but also peripheral nerves and the brain.
– Fabry disease is a rare disease, but what should be emphasized is treatable. For incomprehensible reasons, this treatment in Poland is not reimbursed. Our culture and European culture assume egalitarianism, that is, supporting people who, for various reasons, including health reasons, were not lucky in their lives. And the frequency of this problem cannot decide whether we will deal with it or not – notes Prof. dr hab. n. med. Jarosław Sławek, head of the Department of Neurology and Stroke at the hospital of St. Wojciech in Gdańsk.
– Fabry disease treatment has been reimbursed in other European countries for 10 years. Reimbursed – that is, effective and no one questions this effectiveness in these countries. In addition, we have two drugs that help the sick. If left untreated or treated too late, the effects of the multi-organ damage are irreversible. Therefore, patients cannot wait for many years of negotiations and decisions. From their perspective, but also from a medical perspective, there is no time for this. The lack of treatment availability for this group of patients is an incomprehensible neglect of our medical care system, adds Professor Sławek.
– We really hope and still strongly believe that this time it will be different. Unfortunately, the information that we receive shows that the Ministry of Health, having nothing to do with the health and life of patients, in the ongoing negotiation process, rejected the proposal of one of the manufacturers, which declared its willingness to find some funds to cover the costs of treating Fabry’s disease with your portfolio. As part of the non-increased Gaucher Disease Treatment Program Reimbursement Budget, the Department could establish a new Fabry Disease Treatment Program. Such a solution would be a huge savings for the payer and would be beneficial for all parties, especially patients whose health and life should come first. I believe that this decision is not final and the Ministry, taking into account the life and health of patients, will look at it again, appeals Anna Moskal.
Patients with Fabry disease cannot be seen because their disease does not appear in appearance. Contrary to popular belief, it is also not associated with mental disability. Fabry patients look like any human being, but their organs inside are destroyed every day by the harmful products of metabolism accumulating in the body.
All because of the lack of one of the enzymes found in the human body – alpha-galactosidase (alpha-GAL), which breaks down fatty substances. People with Fabry disease inherit the abnormal structure of the gene responsible for the production of this enzyme. Its deficiency causes lipids to accumulate in many tissues and blood vessels, damaging e.g. kidneys, heart or brain. Due to the impairment of the peripheral nerves, these patients live with constant pain that cannot be relieved by any painkillers.
– Untreated patients develop serious organ complications: kidney failure (which consequently necessitates starting dialysis and kidney transplants); serious cardiovascular complications such as myocardial infarction, valvular insufficiency, left ventricular hypertrophy; or to a stroke – emphasizes Dr. hab. n. med. Jolanta Sykut – Cegielska, prof. IMiD, National Consultant in the field of Metabolic Pediatrics. – Those patients who were treated early enough, and we have such cases in Poland, thanks to the charity treatment program carried out as a continuation of clinical trials, can live, learn, work and function in society normally – adds the professor.
– It is a paradox and a shame for Poland that in the XNUMXst century patients have been denied the right to medical care for so many years, and a disease that could be called a chronic disease thanks to effective treatment is a death sentence for them – comments a neurologist, participant of the XNUMXth Scientific and Training Conference Polish Neurological Society, during which the Association of Families with Fabry Disease collected signatures on an appeal to the minister of health with a request for reimbursement of enzyme replacement therapy.
Appeal to the Minister of Health
At the beginning of June, the Association of Families with Fabry Disease, which was of concern to patients, submitted a letter to the Minister of Health regarding the treatment of patients with Fabry disease, signed by specialists in metabolic paediatrics, cardiologists, nephrologists and neurologists and ordinary citizens. In total, nearly 2,5 thousand people are not indifferent to the health and life of Fabry patients. The appeal was also signed by the greatest medical authorities, professors and presidents of scientific societies: the Polish Cardiac Society, the Polish Neurological Society, the Polish Nephrology Society, and the Polish Society of Congenital Metabolism.
In order that the requests for reimbursement of treatment would not be met with official ruthlessness once again, the association asked Prime Minister Mateusz Morawiecki and Cardinal Kaziemierz Nycz for support.
– The health of patients with Fabry disease in Poland is treated in terms of budgetary burden, financial plans and limitations multiplying endlessly for a long time. When looking at costs, decision-makers in our country forget about indirect costs in the form of treatment of numerous consequences of the underlying disease, costs of related medical procedures, e.g. dialysis, transplantation of failing organs, heart surgery or costs of post-stroke rehabilitation, post-infarction rehabilitation or social care, appeals prof. dr hab. med. Michał Nowicki, post-president of the Polish Society of Nephrology, Head of the Department of Nephrology, Hypertensiology and Kidney Transplantology, Medical University of Lodz.
– Effective treatment of patients with Fabry disease should be treated by governments not only as a cost for the public payer, but as an investment in health. This investment must take into account the savings associated with reducing the costs of numerous medical procedures related to typical complications of the disease that patients with this disease will require, if we do not implement effective causal treatment, adds Professor Nowicki.
Support from the medical community
– Together with other societies, cardiology and neurology, the Polish Society of Nephrology is working on the preparation of a position on the diagnosis and treatment of Fabry disease, which, after approval by all partners, will be published later this year – emphasizes Professor Nowicki.
– We should remember that among the newly diagnosed patients there are also children who lose the chance to limit the health-damaging effects of the disease overnight. Each day of waiting for a reimbursement decision is associated with unimaginable suffering for patients and their families, and sometimes with death – emphasizes Anna Moskal, President of the Association. – Patients with Fabry disease no longer have time, waited long enough, dying in silence and suffering. We strongly believe that enzyme replacement therapy will finally appear on the reimbursement list on July 1, 2019 – he adds. Should this not be the case, we will exercise our right to participate in the reimbursement process as a party. On April 11, 2019, the Provincial Administrative Court in Warsaw ruled in our favor and repealed the decisions of the Minister of Health, refusing our association to participate as a party in the reimbursement procedure. After this decision becomes final, we will be able to be even closer to this process, representing the interests of patients with Fabry disease and looking at the hands of decision-makers, concludes Moskal.
In the European Union, the average time from registration of a drug used in rare diseases to reimbursement is 30 months. In Poland, only in extreme cases the waiting time was 10 years. 18 years of waiting in the case of Fabry disease is the only such case in Poland and the longest so far!