Background <p>Angelman syndrome (AS) is a rare neurogenetic disease that severely impacts a person’s health and daily living, requiring lifelong specialist care. This places substantial demands on caregivers, leading to a decline in physical and mental health, financial strain, and reduced quality of life. This study examines the association between a diagnostic journey in Angelman syndrome and parents’ quality of life.</p> Methods <p>A self-administered, anonymous, computer-assisted online survey of 120 caregivers was conducted between March and August 2024. The Polish version of the WHO Quality of Life-BREF and the Consumer Financial Protection Bureau Financial Well-Being Scale were used. The collected information was imported into JASP 0.18.3.</p> Results <p>54.2% of caregivers experienced difficulties in obtaining timely diagnoses, 51.6% reported receiving misdiagnoses, and 87.4% consulted several specialists before the correct diagnosis was confirmed. Many caregivers believed that a delayed diagnosis harmed their children’s health (31.7%) and resulted in unwarranted or inappropriate hospitalizations (18.3%), medical procedures (26.7%), and medications (16.7%). Caregivers struggled to access genetic counselling and psychological support. AS caregivers had lower quality of life scores compared to the national average across all domains, including social relationships (85.8%), physical health (80.8%), environmental (72.5%), and psychological (61.7%). Caregivers’ quality of life was associated with economic stability, gender, and the timing of diagnosis.</p> Conclusion <p>There is a need for better access to genetic testing, a holistic healthcare approach, and comprehensive support services for caregivers, as well as reliable information, psychological support, financial assistance, and social services.</p>