This project is aimed to measure and understand impact of disease on families of patients with Mucopolysaccharidosis (MPS). Mucopolysaccharidosis (MPS) is a group of rare genetic diseases that come under category 3 of life-limiting conditions resulting in profound disability for which frequent hospitalisation is required. There are different types of MPS varying from mild to severe forms. However, symptoms usually arise in childhood, with progressive limitations in social involvement, which mean that patients may require the support and assistance of caregivers throughout most of their lives. Due to recent medical and genetics advancement, children with rare conditions are living longer than expected. As a result, children and young people move from one setting to another, and during this phase, family members may be vulnerable as they face many challenges along with their child’s diagnosis, quality of life, stress and transition experience which requires careful negotiation. The overall aim of this research is to provide a detailed and reliable evidence base on the impact of MPS on the parents. It is proposed that the study will provide evidence for clinicians and policymakers to improve the availability of appropriate services for the unique needs of children with MPS and their families.