Gosia reflects on the initial shock of diagnosis, the sudden onset of seizures, and her family's realisation at the time that almost no research or structured support existed for families impacted by PACS2. Drawing on her and her husband Piotr’s professional backgrounds, she explains how they decided to found the  just months later, determined to drive research forward themselves.

Over the past three years, Gosia and her family have helped build a global, patient-led research effort spanning drug screening, RNA-based approaches, and preparations for an international natural-history study, working with research teams in Europe and the United States. She shares the personal sacrifices behind the foundation, the role of the  fundraising campaign, and what gives her hope as new therapeutic approaches begin to emerge.

Gosia also offers a candid perspective on patient-led research in Europe, reflecting on barriers to funding, the value of initiatives such as the EURORDIS Open Academy, and why stronger cooperation across countries and institutions is essential for families living with ultra-rare diseases.

Listen here.

Join the conversation using #EurordisRareOnAir or contact the podcast at RareOnAir@eurodis.org."