Quality of Life (QoL) is a pivotal endpoint in pediatric medicine, encapsulating the subjective perception of health. As a multidimensional construct, QOL illuminates the disease burden from both patient and parental viewpoints, thereby facilitating improvements in care quality.
Achondroplasia (ACH) is a rare bone disorder resulting from a genetic mutation in the fibroblast growth factor receptor 3 (FGFR-3). It persists throughout life and, like numerous rare ailments, qualifies as a chronic condition.
Clinicians and researchers have long acknowledged that chronic conditions impact not just the child but the entire family unit. In the realm of ACH, parents may harbour concerns over the potential psychological toll of short stature on their offspring (e.g., apprehensions regarding observation, commentary, derogatory remarks, unwanted touching, or photography), which may manifest in challenges forming friendships, diminished self-esteem, and academic underachievement. Merely by seeking treatment for their children, parental anxiety can abate.
The QoLA Study is a collaborative initiative with partners from Italy and Portugal to improve the quality of life of parents of children with achondroplasia. Our main goal is to develop and rigorously validate Patient-Reported Outcome Measures designed specifically for these parents.
This study concentrates on pivotal dimensions crucial to parental well-being, encompassing caregiving dynamics, coping mechanisms, and shared decision-making. By probing these facets, we aspire to garner a comprehensive understanding and formulate items that aptly capture the trials and triumphs faced by parents of ACH-affected children.
Through meticulous research and collaborative efforts, the QoLA Study aims to empower parents, cultivate communal support, and ultimately bolster the holistic well-being of families grappling with ACH.
