Abstract
Background: Achondroplasia is characterized by disproportionate short stature accompanied by other changes to the musculoskeletal system. Individuals with this condition typically experience a variety of medical complications. Pharmacologic treatments are being developed for the treatment of achondroplasia. It is important to understand the goals for pharmacologic treatment among those affected by achondroplasia and factors that shape these views. Methods: This qualitative study is based on semi-structured interviews with 19 parents of children with achondroplasia and 5 adults with achondroplasia in the United States. We employed thematic analysis using an iterative process to identify themes across the interviews. Results:Participants had two goals for pharmacologic treatment of achondroplasia: ameliorating complications associated with the condition and increasing stature to overcome functional limitations and psychosocial challenges. Complications of particular concern were chronic pain and surgeries to repair spinal, ENT, and neurological sequelae. Increased height would enhance independence, fitting in socially, and avoiding social stigma. Despite many challenges, parents and adults with achondroplasia expressed that they found ways to adapt and emphasized satisfaction and the positive aspects of their lives. Concerns about medical treatment included fear of loss of their identity as a little person. Conclusions:This study offers evidence about how individuals affected by achondroplasia think about pharmacologic treatment of this condition, including both the benefits of ameliorating complications and increasing height. The findings can offer practical insights for parents of children considering treatment, treating physicians and decision makers evaluating coverage decisions for treatment of achondroplasia.