Abstract
BackgroundParents of children with rare diseases often face uncertainty about diagnosis, treatment, and costs associated with healthcare for their child. Health insurance status impacts each of these areas, but no U.S. study has explored parents’ perceptions of the health insurance impacts on their child’s care. This study aimed to qualitatively explore how these parents navigate the complex health insurance system for their children and their experiences in doing so.MethodsSemi-structured interviews were conducted with parents of children with metachromatic leukodystrophy (MLD) and spinal muscular atrophy (SMA), chosen for specific disease characteristics and orphan drug status. Participants were recruited via e-mail through patient advocacy organizations between September and December 2018. Interviews were conducted via Skype, were recorded, and professionally transcribed. Modified grounded theory was utilized as a methodology to analyze transcripts in an iterative process to determine themes and sub-themes based on participant described experiences.ResultsMajor themes and subthemes that emerged across the 15 interviews included: (1) difficulties obtaining secondary insurance based on state eligibility criteria; (2) difficulty accessing needed healthcare services; and (3) need for repeated interactions with insurance representatives. The absence of clearly documented or widely recognized clinical guidelines exacerbated the difficulty accessing care identified as necessary by their healthcare team, such as therapy and equipment. An explanatory model for parent’s experiences was developed from the themes and subthemes. The model includes the cyclical nature of interacting with insurance for redundant reauthorizations and the outside support and financial assistance that is often necessary to address their child’s healthcare needs.ConclusionsWith complex health conditions, small setbacks can become costly and disruptive to the health of the child and the life of the family. This study suggests that patients with rare diseases may benefit from time limits for processing coverage decisions, increasing transparency in the claims and preauthorization processes, and more expansive authorizations for on-going needs. Additional studies are needed to understand the full scope of barriers and to inform policies that can facilitate better access for families living with rare diseases.
Highlights
Parents of children with rare diseases often face uncertainty about diagnosis, treatment, and costs associated with healthcare for their child
metachromatic leukodystrophy (MLD) causes progressive deterioration of intellectual functions, seizures, an inability to speak, blindness, and hearing loss requiring a range of therapists and specialists to provide on-going care [39].In 2016, the drug nusinersen was approved by the Food and Drug Administration (FDA) to treat spinal muscular atrophy (SMA) after clinical trials showed that it can improve motor-milestone responses for some users [37, 42]
Participant characteristics A total of 15 parents participated in the study; four had one child with MLD, 10 had one child living with SMA, and one parent had two children living with SMA
Summary
Parents of children with rare diseases often face uncertainty about diagnosis, treatment, and costs associated with healthcare for their child. Rare diseases are often difficult to diagnose, have few treatment options, and limited research on the natural history of the condition These challenges, along with an inadequate number of healthcare providers familiar with rare diseases [4,5,6,7,8,9] and the financial strain generated by rare disease care often leave parents of children living with rare diseases feeling isolated and uncertain about the disease progression [5, 7, 10,11,12,13]. To avoid large out-of-pocket bills, parents must interface with health insurance representatives to advocate for coverage of services
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