At a meeting of the Parliamentary Team for Rare Diseases on March 18 this year, it was announced that work had begun on a draft of a new law dealing with rare diseases. According to information presented at the meeting, the Team intends to develop a separate law dedicated specifically to these diseases, defined as those occurring at a frequency of less than 1 in 2,000 people.

This definition of a rare disease is contained in Decision No. 1295/1999/EC of the European Parliament and of the Council of April 29, 1999, adopting a Community program in the field of rare diseases within the framework for public health action (1999 to 2003) [Official Journal of the EC L 155 of 22.06.1999, p. 1].

Does this group of diseases really require a separate law? In my opinion, yes, and there are many reasons why rare diseases should receive special treatment in national legislation. First of all, the scale of the impact of these diseases on the health of society is important. Although rare diseases, and especially ultra-rare diseases (i.e., according to the EU definition, diseases occurring at a frequency of no more than 1 in 50,000 people), affect small patient populations, given that some 8,000-10,000 rare diseases have already been recognized and new ones are being discovered every year, a total of about 6-8% of the population already suffers from these diseases. According to estimates, this is about 2 - 3 million people in Poland, according to the August 13, 2024, passed. Taking into account that a serious disease significantly affects the lives of not only the patient himself, but also his family, it is safe to assume that rare diseases in Poland directly or indirectly affect millions of citizens.

On the other hand, the peculiarities of these diseases make it difficult to address problems related to their diagnosis or treatment based on the same regulations that apply to diseases in general. Experts say that only a few percent of rare diseases have dedicated treatment; patients struggling with the rest of the diseases in this category are doomed to a long and arduous search for therapeutic options that could help them. What's more, due to the low incidence of individual rare diseases in the population, or even sometimes the absence of a particular disease (because, after all, new conditions are being discovered all the time), a patient's path to a correct diagnosis is usually long. The website of the Ministry of Health and the National Health Fund, dedicated to rare diseases, calls this phenomenon the "diagnostic odyssey"; according to data published there, the correct diagnosis in a patient with a rare disease is made on average only by the 8th specialist, and by then the patient has 2-3 misdiagnoses.

For the above reasons, there is a need to create a new pathway for rapid access to diagnosis for patients with suspected rare diseases; and this should be a diagnosis that includes not only basic tests, but especially genetic tests, since about 80% of rare diseases have a genetic basis. Patients' needs for diagnosis, but also for treatment of rare diseases are to be met by OECRs: Expert Centers for the Treatment of Rare Diseases, the establishment of which is envisaged by the already mentioned Rare Disease Plan 2024-2025. They are to be linked to the European Reference Networks for Rare Diseases (ESRCRs), virtual networks of providers from across Europe, established to deal with complex or rare conditions requiring highly specialized treatment and to pool the expertise, resources and experience of specialized centers from European Union member states. In the case of rare diseases, international cooperation is crucial, as there may be too few patients with a particular rare disease in a single country to gather relevant clinical experience and develop adequate treatment for them. Therefore, the establishment of OECRs in all member countries has been recommended by the Council of the European Union, recognizing them as a key element of the rare disease strategy; and the European Union Committee of Experts on Rare Diseases has developed recommendations for the establishment of OECRs in member countries.

The Plan for Rare Diseases 2024-2025 is gradually being implemented; in addition to the establishment of more OECRs, a number of other measures have been taken since last year to improve the situation of patients with rare diseases in Poland, including the development of the information platform https://chorobyrzadkie.gov.pl/, and new publicly-funded genetic tests have been made available to patients. However, it should be stressed that the government's strategic plan, the Plan for Rare Diseases, is not a substitute for comprehensive legislation, which could be a new law on rare diseases. First of all, this is because the resolution of the Council of Ministers, which established the Plan, does not constitute universally binding law, but is an internal document and applies only to organizational units subordinate to the body that issued the resolution. In addition, it is a temporary plan - valid for only two years, which means that in 2026 the government's plans for action in the area of rare diseases may change radically. At the same time, the Rare Disease Plan 2024-2025 has a limited regulatory scope. This is because the document focuses mainly on medical issues, i.e. the organization of the diagnostic and treatment process, and neglects, for example, the issue of providing patients with rare diseases with social care or organizing education for children struggling with such diseases.

Therefore, regardless of the existing Rare Disease Plan and the still ongoing work on its implementation, patients suffering from rare diseases, of which we already have a significant number in Poland, should have a law that creates a framework for a valid system of diagnosis, treatment and care for these patients.

Katarzyna Czyzewska, an attorney at the Czyzewski law firm.