Post by Universidad Rey Juan Carlos
206,185 followers
πππ° ππππ π«ππ¬πππ«ππ‘ π‘π’π π‘π₯π’π π‘ππ¬ ππ‘π π₯π’π―ππ ππ±π©ππ«π’ππ§ππ π¨π πππ¦π’π₯π’ππ¬ ππππ’π§π ππ‘ππ₯ππ§-πππππ«π¦π’π ππ²π§ππ«π¨π¦π A study led by researchers at Universidad Rey Juan Carlos (URJC) sheds light on how families live with Phelan-McDermid Syndrome, a rare and underdiagnosed genetic condition with no cure. Based on in-depth interviews with 32 parents, the research reveals that the diagnostic process is often long and challenging, while families progressively take on the role of βexpert caregiversβ in managing therapies and day-to-day care. The findings highlight that the impact of the condition extends far beyond the clinical dimension, affecting emotional wellbeing, social life and financial stability. The study underscores the need for a more holistic and empathetic approach that integrates healthcare, social support, and better professional training to improve the experience of patients and their families. π https://lnkd.in/eJFKKzRB π Read more: https://lnkd.in/ej5dRveZ #study #URJC
