Polish healthcare experts address diagnostic challenges for rare diseases and Alzheimer's

During recent health summits in Poland, experts and patient advocates highlighted critical gaps in the diagnostic processes for rare diseases and neurodegenerative conditions like Alzheimer's.

Stanisław Maćkowiak, president of the Polish Patients Federation and the ORPHAN National Forum for Rare Disease Therapy, noted that it takes an average of five years from the first symptoms to a rare disease diagnosis. He emphasized that primary care physicians need clearer pathways to refer patients to specialized centers that possess both the time and funding to conduct necessary testing. While progress has been made through various national rare disease plans, Maćkowiak argued that diagnostic and care organization remains in the implementation stage and that a holistic approach requires cooperation across multiple government ministries.

Regarding Alzheimer's disease, participants at the II Brain Health Summit in Warsaw discussed the urgent need for early detection and access to new causal therapies. In Poland, approximately 394,000 people aged 55 and older were registered with Alzheimer's or related diseases in 2025, with projections suggesting this number could exceed one million by 2050. Currently, only about 20 percent of patients are diagnosed at an early stage, and 92 percent of caregiving responsibilities fall on families who often lack sufficient systemic support.