The Experiences and Challenges of Mothers of Adult Patients with Mucopolysaccharidosis; Mothers of Adults with Severe Mucopolysaccharidosis

Abstract

Although many studies have examined the treatment and symptoms of children with MPS, very few studies have focused on adults with MPS. This study aimed to clarify the experiences and challenges of mothers of adult patients with severe mucopolysaccharidosis (MPS) who live at home. The data from semi-structured interviews with twelve mothers (patients’ ages ranged 19-44 years) were analyzed. The following six categories were extracted: fear that the disease will continue to progress despite treatment, tired of shifting gears in care and healing, fatigue due to multi-department visits to control the progression of the disease, the pain of not being able to see a bright future, desperate for new treatment methods for MPS, and developing care and a place to stay after parental support is gone. A unique issue of patients with MPS is that enzyme replacement therapy must be continued throughout life, and there is an urgent need to create a system that allows patients with severe MPS to receive enzyme replacement therapy for the rest of their lives, even after their parents pass away.