Rare diseases - diagnosis, access, decisions. From organizational challenges to therapy funding

Rare diseases, as was emphasized during the panel dedicated to them, affect 6-8 percent of the population and, if only for this reason, represent one of the main challenges for public health and the health care system at the same time, even if treatment is available for only a small proportion of them. As Dominika Janiszewska-Kajka, deputy director at the Department of Treatment at the Ministry of Health, emphasized, as of May 1, expert centers dedicated to the management of patients with rare diseases can count on more favorable funding. - This consists of an increased valuation of the man-day of hospitalization and the possibility of adding up diagnostic procedures performed during the patient's stay in the hospital," she explained, adding that the Health Ministry plans to expand the list of expert centers that will also be able to count on such billing rules for patients with rare diseases, as there is no doubt that caring for them is more labor- and cost-intensive.

Changes in billing rules and expansion of the list of expert centers are undoubtedly good and welcome news, but, as Prof. Anna Kostera Pruszczyk, head of the Department of Neurology at the University Clinical Center of the University of Warsaw (WUM) and chairwoman of the Rare Diseases Council, said, the community is waiting above all for the Rare Diseases Act. - The plan under which we operate has its "expiration date" expiring at the end of 2025. Meanwhile, making the necessary changes, solutions, is a process in which continuity is necessary. This continuity can be guaranteed by the law," she explained, adding that subsequent "plans for rare diseases" can set strategic goals, while the law will give a framework for the reality in which patients with rare diseases operate.

The passage of the law will, among other things, enable the launch of rare disease registries and a rare disease patient card. - We appreciate that rare diseases have already been included in CeZ's work on a platform to enable e-consultation, i.e. remote consultation between specialists. One of the slogans of the European Reference Network is: - Knowledge travels, not the patient. It is not always necessary for a patient to visit an expert center in person, she stressed.

Prof. Kostera-Pruszczyk also reminded that the improvement of financing is a fact, but the retarification work should continue, because the expert centers are staffed by the best qualified specialists, and their work takes a lot of time, however - it allows to make a diagnosis and properly plan care, which from the point of view of the system is a huge saving. It puts an end to the diagnostic odyssey of patients who have had several or a dozen consultations and countless often very expensive tests. The expert gave the example of a minor patient who came to the clinic she manages having a long history of tests and consultations with suspected polyneuropathy. - It turned out that the patient was suffering from distal myopathy, a completely different disease entity. The diagnosis was made by a neurology resident after analyzing the records of tests performed previously. He made this analysis with the appropriate knowledge, the documentation included information about a gene mutation that explained the patient's condition," she pointed out, adding that "the improvement of the valuations should go much further," among other things, so that "in two years' time, this excellent doctor can be employed at the clinic and shorten the queues in the system.

Stanislaw Maćkowiak, president of the Federation of Polish Patients and the National Forum for Rare Disease Therapy ORPHAN, also had no doubts about the fact that at the moment the basic problem in the area of rare diseases is the lack of a law. As he stressed, the project has been in the making for about two months within the framework of a social team, established on the initiative of Prof. Alicja Chybicka, who chairs the Parliamentary Group for Rare Diseases. - We would like to avoid the situation of 2023, when the "Plan for Rare Diseases" expired and there was no legal basis for implementing its provisions, even if the work was ongoing, he recalled. The patient representative stressed that the bill aims to level the playing field for the 2.5-3 million Poles suffering from rare diseases, if only in terms of access to services or therapeutic pathways. As he pointed out, those involved in the work on the bill - including lawyers - are working pro bono, while the team was also supported by representatives of the Patient Ombudsman.

- Six months to pass the law is a very optimistic scenario," cooled the mood of attorney Katarzyna Czyzewska, Czyzewscy Kancelaria Lawyacka, also involved in the work on the bill. As she said, one has to reckon with the fact that both the matter itself and the legislative process are complicated. She also estimated that work on the draft could take several months, and another few - assuming the Health Ministry takes over from the team - need to be added for work within the ministry, inter-ministerial arrangements and public consultations. On the other hand, said Ms. Czyzewska, there is no doubt at all that the law is needed, because the subsequent Rare Disease Plans, while needed, are not universally applicable law. - There are times when such plans or programs are not carried out, without any consequences. It is also always possible to shift the emphasis. Plans will not replace the law," she concluded.

Prof. Bozena Kociszewska-Najman, head of the Department of Neonatology and Rare Diseases at the University Clinical Center of the University of Medical Sciences (WUM), reminded how important a role neonatology plays in the diagnosis of rare diseases, if only because immediately after birth newborns are screened. - We have a very good program, although of course it does not detect all diseases," she admitted. The expert stressed that the last few years have seen a sharp - by 30 percent. - decrease in the number of births and at the same time an increase in the percentage of children born with birth defects and rare diseases. The risk factor, she said, is the significantly higher age of women choosing to become mothers and the rise of assisted reproductive techniques. - They themselves are not a risk factor, while they go hand in hand with late motherhood, she explained. The patient profile that neonatologists deal with is changing. These are not only newborns with respiratory disorders, not only premature babies, but also children requiring multispecialty care and comprehensive diagnostics from the first days, which is long and complicated, because, as Prof. Kociszewska-Najman stressed, many diseases doctors are still learning, many are undiagnosed. - These are chronic and progressive diseases, so time is very important, crucial. The earlier we make a diagnosis and implement treatment, of course, if it is possible, the lower the risk of disability, the chances of better quality and length of life increase," she said.

A prominent place among rare diseases is occupied by neurological diseases. Prof. Anna Kostera-Pruszczyk explained that half of neurological diseases are rare diseases and about 90 percent of rare diseases that begin in childhood contain neurological elements. - Neurologists and pediatric neurologists indeed deal with rare diseases very often, she said, giving a simple comparison as an example: there are 50,000 patients with MS in Poland, while there are 200,000 patients with various neuromuscular diseases. - Rare diseases are not in opposition to public health. On the contrary, we read in European Union documents that they are one of the priorities of public health. They are not marginal! - she stressed. - Statistically, in a class of 30, there are one or two students suffering from a rare disease. It is not without reason that the WHO points out that rare diseases are a global health priority for equality and inclusion.

Dr. Michal Seweryn, president of EconMed Europe, referred to a specific group of patients with hemophilia - a rare disease, but one that has had access to treatment for many years, which is not a common situation. - We are currently preparing a comprehensive report on the situation of this group of several thousand people, he said. He also pointed out that the availability of treatment is only one aspect. - Let's look at the resources available to the system. We don't have enough hematologists, it is estimated that there is a shortage of three hundred at the moment. It is in our interest to optimize their working hours," he said. This is being addressed by new subcutaneous forms of drug delivery, which, he stressed, are already becoming widespread in oncology or neurology. They should also in hematology, because on the one hand they make a positive difference in the lives of patients, and on the other they greatly reduce the involvement of medical personnel in activities that are not necessary. The arguments "for" subcutaneous forms are repeated like a refrain. It's not only patients who get sick, because these problems also affect the caregivers who have to accompany them," he pointed out, adding that the financial perspective, the budget perspective, is very important and cannot be overlooked, but neither can it be looked at piecemeal, and the full picture taken into account.

- Treatment is possible for 3 percent of rare diseases. Many therapeutic options are reimbursed , though of course with limitations. I hope that the planned introduction of multi-criteria analysis within the framework of the reimbursement law amendment under way will make it possible to take into account, when making reimbursement decisions, all costs," commented Stanislaw Maćkowiak.

Referring to the reimbursement issues raised, Dominika Janiszewska-Kajka pointed out that the list of reimbursed drugs is being expanded all the time, including in the area of rare diseases. Diagnostics is also being expanded so that it keeps up much more with the possibilities of therapy. - Diagnosis should be ahead of therapy," commented Prof. Anna Kostera-Pruszczyk hotly, while pointing out that diagnosis in rare diseases must be conducted fairly, not only in terms of enabling access to modern drugs. - There are many patients who can benefit from drugs already available, not necessarily expensive, also outside the indications, as long as they have a correct diagnosis, she reminded. Such diagnosed patients will also have a chance - if it is already possible - to be included in the registry, and the expansion of registries will facilitate reimbursement decisions.

What are the chances of success, i.e. of passing a law on rare diseases? The representative of the Ministry of Foreign Affairs assessed that a realistic prospect is its entry into force in the middle of next year, practically ruling out an earlier date. As she said, work within the government is conditioned by obtaining an entry in the list of legislative work of the government, and ministerial projects wait for such an entry for several months at a time. - Once there is an entry, the procedure within the government faster or slower, but it moves forward. Therefore, it is very important that the project is well presented, but also agreed with all those who will be affected," she said, pointing out that the matter could encroach on the field of education or social policy. Already at the stage of work on the project, in her opinion, it would be necessary to cooperate with these ministries if the bill were to go beyond the area of the health care system. - If, as is likely, the bill is not in place by the end of the year, the "Plan for Rare Diseases" will have to be extended, updating it, she said, recalling that documents of this type in many countries are the basis for conducting policy in the area of rare diseases, and patients with these diseases have entitlements, resulting from provisions of statutory rank, enshrined, for example, in the law on publicly funded health services. - The decision to work on the law does not belong to the Ministry of Health, it is made at the government level, she recalled, speaking of "Plan B."

- Bridging therapies are very important in medicine, and such a bridging solution as "Plan B" for rare diseases is also important," agreed Prof. Kostera-Pruszczyk. Attorney Katarzyna Czyzewska argued against the thesis that the Rare Diseases Act can be replaced by already existing legislation in its current or amended form, be it the law on benefits or the basket regulations issued on their basis. - The goal is to simplify and organize the paths of patients with rare diseases to diagnosis and treatment. "Plan B" is feasible, of course, but a law is definitely better, because at the moment the legal state of affairs when it comes to the health care system is complicated even for lawyers, not to mention patients or doctors," she pointed out.

- The systemic solutions that will level the playing field for patients with rare diseases is the law, or "plan A". - Stanislaw Maćkowiak summed up the discussion, noting that there is always the parliamentary path in reserve, which can also be used to refer the project for legislative work.