No Decision About Us Without Us: Informing Rare Disease Policies in Canada with the Lived Experiences of Patients and Families with Rare Genetic Lysosomal Storage Diseases

Abstract

Canadians born with rare diseases (RDs) experience a myriad of challenges as they navigate the healthcare system to access lifesaving drugs and related services. Canada lags behind other advanced industrialized countries in implementing a comprehensive national strategy to manage RDs and facilitate access to drugs for rare diseases (DRDs). The existing provincially managed system for accessing DRDs is fragmented, uneven, and uncoordinated. It is not reflective of patient experiences but rather aggravates patient challenges, including delayed access to treatment and inconsistent decision-making for drug coverage. The central purpose of this dissertation is to understand how lived experiences of RD patients can inform health policy and the healthcare system to improve RD care. Drawing from semi-structured interviews with RD (lysosomal storage diseases) patients and their families and a review of policy documents, this dissertation uncovers four major challenges encountered by RD patients beyond gaining access to DRDs. These include 1) difficulty in obtaining a timely correct diagnosis; 2) lack of coordinated, efficient, and holistic patient care; 3) lack of consideration of patient voice in decision-making processes; and 4) difficulty in navigating the healthcare system due to stigmatization. This dissertation also finds that the patchwork of programs that govern access to DRDs in Canadian provinces has been ineffective and has failed to support patients in receiving timely and equitable access to DRDs. The above factors demonstrate the necessity for a comprehensive national strategy for RDs that goes beyond an orphan drug framework and addresses the holistic needs of the patient population. Patients and families must be centrally included in the continuum of care and the policymaking process. Such a framework empowers people affected by RDs and reduces their marginalization and exclusion. This dissertation fills important gaps in the existing literature. It delivers important data and insights 1) by collecting extensive, hitherto unavailable, experiential data from RD patients and their families by bringing their unique voices to the policy table; 2) by making patient-centered recommendations for the proposed national RD strategy; and 3) by offering a structured patient engagement framework in the RD sector to meaningfully engage RD patients in decision-making.