Table 3.

Major themes and policy recommendations

Major themes	Primary obstacle/barrier	Policy recommendation
Obtaining insurance	Insurance eligibility differences across states and wait lists to obtain public insurance can limit access to certain types of care Life decisions such as employment and geographic location are tied to healthcare needs	Consistent mechanisms for patients living with rare diseases to enroll in insurance programs Universal coverage programs that are not tied to employment Additional resources in Medicaid to reduce enrollment wait times Programs to help patients access diagnostics, including genetic testing
Interacting with insurance company representatives	Difficulty getting clear and consistent answers related to coverage Time intensive and redundant process to cover on-going care needs Lack of knowledge amongst insurance company representatives about the medical condition and care needs	Insurance staff trained in dealing with rare diseases A better framework to assess rare medical needs Assigned caseworkers or patient navigators within insurance and a direct way for parents to contact their representative to increase consistency Clear and transparent documentation related to coverage benefits Increased transparency in the claims and prior authorization processes to decrease the time and understand the status Time limits for coverage decisions Universal authorizations for on-going needs to decrease redundancy
Accessing care through insurance	Changes from year to year resulted in different out-of-pocket costs and an ability to plan for other healthcare assistance If coverage was denied, parents were forced to interact with insurance again to dispute the claim Some aspects of care were seen as medically necessary by providers, but were not covered under insurance Cost-sharing mechanisms, even if modest, could be prohibitive	Consistency of coverage across plan years and clarity around changes Published fee schedules and costs Waivers for out-of-network care so individuals can access diseFinancial assistance or caps on total out-of-pocket costs ase experts Approvals for telemedicine that are not subjected to out of network care restraints
Financial assistance	Additional financial assistance was often necessary to cover healthcare needs From the parental viewpoint, insurance and other assistance were an interconnected web to cover needed care Some programs were dependent on age or geography	Centralized location for information about other financial assistance programs Rare disease specific navigators
Involvement in insurance	Parents were responsible for learning the system and available options Health literacy and overall comfort interacting the system could impact mental health and stress Parents felt they needed to devote a lot of time to understanding the system, especially to prevent a health event or setback	Trained rare disease patient navigators or centralized information sources Increased awareness for the challenges facing rare disease families Additional research related to the experience of navigating the healthcare system and strategies to facilitate better care