Rare diseases, the experts stressed, have only relatively recently been seen and analyzed in the context of public health - although they undoubtedly pose a challenge, given that in Poland, according to very conservative estimates, some 3.5 million people suffer from them. - In fact, the number affected by rare diseases must be multiplied by at least two, perhaps even three. This is because they also affect the people closest to the patients, who often accompany them in their lifelong struggle with the disease," reminded Prof. Anna Kostera-Pruszczyk, chairwoman of the Council for Rare Diseases, head of the Department of Neurology at WUM.
As one of the main achievements of recent years, the expert pointed to advances in diagnostics that make it possible to shorten the diagnostic odyssey. As a result, the patient receives a diagnosis faster, but also the system saves powerful resources (no duplication of visits, tests, refraining from treating misdiagnosed diseases). This also translates into shorter queues for tests and specialists. In some cases, an accurate diagnosis can also result in greater protection for family members (genetic testing).
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