Caregiver-Reported Economic Impacts of Pediatric Rare Diseases-A Scoping Review

Background/Objectives: Rare diseases are conditions that are individually rare but collectively common. These diseases can incur significant direct and indirect costs with a combination of high medical expenses, loss of income, and additional non-medical costs. Despite this, research into the economic cost for families of children with a rare disease is lacking. This scoping review aimed to document the evidence on the economic impacts of living with a rare disease for children and their families. Methods: Six electronic databases were searched to identify relevant peer-reviewed literature that discussed the family costs (direct medical, direct non-medical, and indirect) of having a child with a rare disease, published between January 1983 and April 2023. The geographical location, type of rare disease, and language were not limited. Data were extracted from the included studies following the screening process and are reported following the PAGER framework for reporting scoping review results. Results: The final analysis included 28 studies. The studies highlighted areas of high costs, including visits to healthcare professionals (n = 36), medication costs (n = 11), presenteeism (n = 17), and informal care (n = 11). However, gaps in the existing research, such as the focus on metabolic or musculoskeletal rare diseases and the lack of a distinction between rare and ultra-rare diseases, were apparent. Conclusions: Having a child with a rare disease can significantly impact a family's financial health, and these costs extend beyond healthcare costs. Understanding the costs experienced by the rare disease population is important to better define and comprehend the economic impact of rare diseases.