Caregivers of children with developmental and epileptic encephalopathies (DEEs) often face uncertainty regarding their child’s medical condition. DEEs are defined as a group of rare neurologic conditions that occur during early childhood. Children with DEEs often experience severe epilepsy and require aggressive treatments. Technologic advances in next-generation sequencing (NGS), commonly used for gene panel testing and whole exome sequencing (WES), have significantly improved the diagnostic yield to ~30% for those with DEEs. At the same time, NGS can find variants of unknown significance (VUS), for which the impact of an identified genetic variation is uncertain; these results can complicate the clinical picture without offering a clear answer. In this scenario, further interpretation of whether a VUS may be causative of an individual child’s phenotype may not be possible given insufficient knowledge of a gene or disease to date, limiting the understanding of an illness. In this manner, NGS can provide information with uncertain interpretation that can add to the diagnostic odyssey for both caregivers and those with a DEE with an unknown cause.
Other burdens for caregivers of children with DEEs include coping with their child’s condition and accessing medical insurance coverage, which increase the emotional burden of an unknown genetic diagnosis. Caregivers have reported depression, anxiety, and stress in response to caring for a child with early-onset epilepsy. The quest for an accurate diagnosis can increase this burden, considering that obtaining coverage or funding for WES can be challenging because it is not covered by all insurance companies and caregivers of children with epilepsy already spend on average $7522 annually on direct medical costs.
Emerging studies are beginning to address the complex experiences of caregivers for people with DEEs and many emphasize the importance of qualitative and quantitative methodologies. Considering the uncertainty and challenges associated with caring for a child with DEEs, a broader analysis of caregiver experiences is needed to inform pediatricians, neurologists, and genetic counselors on how to provide further support for affected families. In this article, we discuss our use of medical anthropologic methodologies to analyze caregiver illness accounts; based on this analysis, we make concrete suggestions for how health care professionals can enhance their support for caregivers of children with DEEs. (continued at link)
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