Burdens of disease and caregiver burden in complex vascular malformations

Abstract

Introduction Vascular malformations (VMs) are rare diseases that affect a wide age range of patients and require complicated care and management. The strain these conditions put on patients and their caretakers is not well understood. This study aims to characterize those burdens in young adult patients and parents of patients with VMs to improve communication, health‐related quality of life, and caregiver burden. Methods We performed semi‐structured interviews with patients and parents of patients with VMs. Interviews were conducted via telephone or video‐call software, recorded, and transcribed. The transcriptions were analyzed to identify burden themes through multiple rounds of codebook development and refinement. The final codebook was applied to all interviews. Results Twenty‐five young adult patients and 34 parent interviews were performed and led to the identification of four primary themes of disease burden that showed up in almost every interview: burdens of the disease process, logistical and financial burdens, psychological and emotional burdens, and social burdens. Persistent uncertainty was prominent and exacerbated all other burdens as well. Discussion We found that patients and parents struggle with burdens in a wider breadth of life experiences than have been previously characterized in the literature. They feel stressors of isolation, struggles with their identity, and even traumatic experiences from prior medical encounters. It is critical for providers of these patients and families to be aware of the burdens that they face outside of the immediate medical context. Acknowledging and providing space to address these burdens has the potential to greatly improve therapeutic relationships.

Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea

“…Additionally, the high rate of caregivers leaving their jobs to care for patients (53.5%) signals an urgent need for assistance not only for patients with rare diseases but also for the families caring for them. The call for comprehensive support, which includes both medical and psychosocial assistance for patients and their families, has been repeatedly highlighted in studies on rare diseases [23][24][25][26]. Our study meaningfully contributes to the global recognition of the need for multidisci-plinary support for patients with these diseases and their families in Korea.…”

Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

“… 23 Rare diseases require an extensive multidisciplinary team, at‐home medical equipment, and newer medical therapies that can exhaust or be denied by medical insurance; placing all of the financial burden on the caregiver. 6 , 9 , 11 , 13 , 14 , 24 …”

“…Obtaining a rare disease diagnosis can be an arduous process because of symptom heterogeneity and lack of physician awareness. 14 , 25 , 26 Physicians are trained to think systematically when approaching an undifferentiated patient; which can unintentionally prolong the diagnostic process and limit understanding of rare diseases.…”

“…10 , 11 Causes of poor caregiver health outcomes are believed to be multifactorial; the extent to which caregivers must provide medical care for their child and live with the uncertainty of their future have both been implicated as negative stressors. 12 , 13 , 14 These outcomes are especially prevalent among caregivers of children with chronic neurological diseases and rare diseases. 7 , 15 One possible explanation for this is the degenerative nature of pediatric neurologic disease; in which the healthcare team and caregivers must balance slowing disease progression and maintaining the child's quality of life.…”

“… 12 This can make caregivers feel isolated in their experience and subject to scrutiny from friends and family; further amplifying feelings of anxiety and depression. 9 , 14 , 17 …”