ISSUE: Ten thousand rare diseases (RD) affect ~400 million people worldwide. In US the total healthcare expenditure of RDs (2019) was $966 billion but the true costs of RDs are unknown. The caregivers complement the healthcare and social security systems although its underappreciated and very little recognized. Evidence relating to cost and burden of disease suggests significant costs, both economic and social, and ranging far beyond the healthcare expenditure for the individual patient. Patients and their families face substantial (‘hidden’) intangible costs associated with disease management.

Who bears the cost: patients and their families or payers?

OVERVIEW: Nicole will provide an overview of healthcare costs: direct, indirect, and intangible. Intangible costs will be the focus of the discussion, such as loss of independence, productivity impacts, and psychosocial effects. These costs are not appropriately considered in the evaluation of treatments and greatly impact patients and their families.

Michael will review the issues in the estimation of patient and family costs, and quality of life impacts, within the current HTA environment(s) and suggest ways of capturing these items within the evaluation of new treatments.

Fleur will give an industry perspective, additionally drawing on examples from HERCULES and as a caregiver in DMD, discussing the need, desire, and complexities in capturing these impacts and the challenges in articulating these items to decision makers so the full value of treatments can be demonstrated.

Daniel will discuss the impact of acid sphingomyelinase deficiency (ASMD) in both pediatric and adult patients. He will dive deeper and unpack the social and psychological impacts/costs experienced by patients both pediatric and adult. These costs affect more than just the patients, impacting the larger support unit (siblings, children, and spouses). He will provide a unique perspective into these ‘hidden’ costs on siblings, family/parents/carers to understand the economic, social, and psychological impact.