On February 21, as part of the celebrations of International Angelman Syndrome Day, FAST Poland organized the second nationwide conference dedicated to Angelman syndrome, entitled “Between Dreams and Reality.” This year’s theme was “From Diagnosis to Therapy.”
The conference brought together doctors, therapists, researchers, and—most importantly—families and caregivers of individuals with Angelman syndrome. A total of 134 participants registered for the event, which became a valuable space for exchanging knowledge, sharing experiences, and building mutual support between experts and the Angelman syndrome community.
The conference addressed many important topics related to the latest medical knowledge and ongoing efforts to find transformative therapies for Angelman syndrome. Discussions included the importance of obtaining an accurate diagnosis and current diagnostic methods. Special attention was also given to the role of general practitioners in enabling earlier diagnosis of rare diseases. These topics were discussed by leading Polish pediatric neurologists.
Another key topic was the need for a systemic approach to rare diseases and reimbursement processes in Poland. These issues were discussed by Stanisław Maćkowiak, President of the National Forum for Rare Disease Therapies ORPHAN.
Speakers also emphasized that discovering and approving potential therapies is not enough—it is equally important to ensure that patients have real access to these therapies through reimbursement. In this context, the results of a study on the costs of care for individuals with Angelman syndrome were presented. The study was conducted by Dariusz Walkowiak, PhD, and Jan Domaradzki, PhD, in collaboration with FAST Poland.
An important part of the program also focused on education and building supportive communities around individuals with disabilities, including a discussion of the educational model known as “School in Circles.”
The event highlighted the strength and dedication of the Polish Angelman syndrome community and demonstrated the great value of collaboration between families and professionals working toward a better future for individuals living with AS.