Swift (4) has suffered since birth from a rare genetic disease - congenital thrombotic thrombocytopenic purpura - cTTP, one of the rarest hematological diseases, the essence of which is a deficient amount of the enzyme ADAMTS13, responsible for regulating blood coagulation. Until now, treatment has consisted of plasma infusions, which has been hugely inconvenient for patients, especially children. - My son had to be hospitalized once a month and spent more than three hours under a drip," says Ms. Marta, Swift's mother. - It was a drama for the whole family, on top of which her son's plasma was allergenic.
Reimbursement: Patients with rare diseases should be better off
Published May 12, 2025 16:44
When the family learned that a drug had emerged, the first to target the disease, the recombinant ADAMTS13 protein, there was immediate hope.
- The drug in our country is only in the reimbursement process, we were lucky enough to benefit from the manufacturer's donation. But it will end soon, and what will happen next? We prefer not to think. Because the drug in Poland is in the reimbursement process, and all that remains is hope," adds Ms. Marta. - And this drug is a revelation, it's a miracle! Since Jerzyk started taking it, he can go to the nursery, and even if he "catches" some infection, he passes it gently. And we can work.
Other cTTP patients are looking with hope to the Ministry of Health's further actions. Also looking with hope at the reimbursement of other drugs are patients with other rare diseases, for whom new drugs, already registered, but not yet available in our country, are a chance not only for health, but also for life, for a return to normality.
And there are many indications that the situation of patients with rare and ultra-rare diseases will improve, to which the amendment to the reimbursement law, which assumes, among other things, the introduction of new criteria for evaluating drugs dedicated to rare diseases, will contribute significantly. This was the topic of the debate "Patient with a rare disease in the health care system", which was one of the elements of the 2nd Conference of Polish and European Reference Networks - "Rare diseases - not only systemic problems".
We can't just look at the price of a drug
- Although in rare diseases we can talk about the many breakthroughs that have occurred in recent years, we still have a lot of work to do," stressed Katarzyna Lisowska, president of the Hematooncology Association, which runs a support group for cTTP patients on FB. - Until now, we have mainly talked about the cost of therapies for these diseases, how expensive they are, that we can't afford them. And it's high time we started talking about the indirect costs generated by the lack of availability of these therapies. About the costs of hospitalization, pensions, benefits, about the resignation of families who, instead of being economically active, have to take care of a sick family member, etc. Let's talk more about the life of the patient, his or her family, all these conditions, related to treatment. We cannot look only at the price of the drug. And if we take into account all these conditions, it may turn out that this very expensive therapy will not be so expensive after all. Therefore, it is very good that changes have been made to the reimbursement law from this angle.
- We should look at investments in modern treatment precisely as investments that will have an effect on the entire population, on the entire health care system, including by reducing benefits from Social Security. The patient, of course, is the most important, but we can't overlook everything that is related to his treatment," pointed out Prof. Katarzyna Życińska from the Department of Rheumatology, Connective Tissue Diseases and Rare Diseases at the PIM MSWiA. - And importantly - in many disease entities, treatment should be started with the best, most modern drugs, this will also translate into savings later.
Multi-criteria analysis is the basis
Proposed changes to the Reimbursement Law, which would see drugs for rare diseases enter reimbursement faster than drugs for common diseases and become more accessible, were submitted by MPs in September 2024. There are quite a few of these changes, about 60, and each is important. - These changes are meant to solve problems that have been growing for years, until the time finally came when some decisions had to be made to improve the situation of patients," said Mateusz Oczkowski, deputy director of the Drug Policy and Pharmacy Department at the Health Ministry. And so, what the representatives of patient organizations have been asking for for a long time, the pharmacoeconomic analysis of drugs for rare diseases is to take into account criteria that have not been there before, cost and non-cost criteria, and, among others, the impact of the disease on the quality of life of the patient and his relatives, the length of healthy life and many other factors, determinants that are difficult to convert into money. This is known as multi-criteria decision analysis (MCDA), which is particularly important for non-standard, often high-cost therapies.
- Multi-criteria analysis includes clinical effectiveness, economic effectiveness and indirect costs, if all this is taken into account in the reimbursement process, the situation of patients with rare diseases must change for the better, emphasized Maciej Niewada, MD, from the Department of Experimental and Clinical Pharmacology at WUM. - And as for the cost of innovative drugs, well, they have to cost money, but that's what multi-criteria analysis is for, so that in the end it pays off for everyone. And to the patient, and to the system.
One of the provisions in the amended law concerns increasing the role of the Health Ministry in the reimbursement process. The minister will be able to call on pharmaceutical companies to submit reimbursement applications, whereas until now the first move has been up to the manufacturer.
The amendments to the Reimbursement Law also stipulate closer cooperation between the Ministry of Health and AOTMiT and the National Health Fund.
