Medical Rationale: Rare diseases

The need to level the playing field

"We do not expect special treatment for patients with rare diseases, but we call for leveling the playing field for them, reminding that:

- making a diagnosis, not without reason, has lived to hear the term - a diagnostic odyssey, and the protractedness of this process worsens the condition of patients and the prognosis even in those, still few, cases where there is a therapeutic option

- working on a drug for a small number of patients is a clinical and financial challenge, with all its consequences - for researchers, the system, and most importantly, for the patient

- in many cases, the disease is a threat to life, and in chronic conditions - physical and mental suffering

- proper care of our residents experiencing multi-organ injuries is a task for interdisciplinary teams and highly specialized centers, which are in short supply

- if we add to this the frequent cases of traffic exclusion, the impoverishment of the entire family by the disease, the lack of social support, the nonsense and callousness of the regulations that make people with permanent injuries systematically appear at committees to check their motor skills - one can understand the level of frustration and helplessness of themselves, their loved ones and us doctors."

This is how the specifics of the challenges were described by clinicians attending the eighth meeting of the Rare Diseases Expert Council of the Medical Council of State on February 28.

In unity strength

- There are about 350 million patients living with a rare or ultra-rare disease worldwide. In the EU it's 30 million, and in Poland it's 3 million. Recalling, however, the diagnostic problems already mentioned, I would not be surprised if there are twice as many," said Prof. Alicja Chybicka, chairwoman of the Parliamentary Group on Rare Diseases, adding that it is the duty of conscience to find such systemic solutions that will save every life at risk and effectively protect patients from suffering in all cases where this is possible thanks to the progress of medicine.

- We were among the first to call for attention to the most vulnerable. We have been publicizing issues related to the plight of patients suffering from rare diseases since the establishment of the Medical Rationale of State, so that they have become a positive obsession for politicians. Growing access to modern therapies is proof of our effectiveness as well. Long before the pandemic, which proved the validity of our demands, we were pointing out the necessity of establishing and cooperating within the European Health Union. A hard motivation in the context we are discussing today is also the fact that many of these diseases are so rare that research on them can only be conducted on a European scale. A natural consequence of all these arguments, then, will be an effort to include the challenges of rare diseases in the priorities of the Polish presidency in 2025. - added Prof. Pawel Kowal, initiator of the establishment of the Medical Rationale of State and chairman of the Parliamentary Foreign Affairs Committee.

- On February 10, 2024, an appeal from the patient and expert communities to support this idea was submitted to Health Minister Izabela Leszczyna. As Chairman of the Expert Council on Rare Diseases of the Medical Rationale of State and a signatory to this document, I would like to remind you that this is the eighth year that we, among specialists, admonish the fate of our charges, supporting all systemic and clinical solutions that can serve to improve it. More than 100 ne...