The lived experience of parents with children diagnosed with mucopolysaccharidosis waiting for enzyme replacement therapy

Mucopolysaccharidosis (MPS) is a rare and life threatening disease, and is one form of a family of metabolic genetic diseases. MPS is classified as an orphan diease. There is no cure for MPS; however, supportive treatment through Enzyme Replacement Therapy (ERT) is available but is an orphan drug. Canada is the only member of the Organization for Economic Co-operation and Development (OECD) that does not have an Orphan Drug Policy. The purpose of this phenomenological descriptive study was to explore the lived experience of parents with children diagnosed with MPS and who have received ERT but were now waiting for ERT funding by the provinces/territories. Nine key informant interviews, using a semi-structured interview guide, were conducted and the following four key themes emerged: A New Journey; A New Reality; A New Optimism and A Road to Nowhere. This description is unique to parents in Canada as it describes their experiences of having to live out the policies set by federal and provincial/territorial governments.