Walkowiak Dariusz, Domaradzki Jan, Mozrzymas Renata, Kałużny Łukasz, Walkowiak Jarosław
Department of Organization and Management in Health Care, Poznan University of Medical Sciences, 60-356 Poznań, Poland.
Department of Social Sciences and Humanities, Poznan University of Medical Sciences, 60-356 Poznań, Poland.
J Clin Med. 2024 Aug 1;13(15):4510. doi: 10.3390/jcm13154510.
: Caregiving experiences in rare diseases (RDs) vary based on factors such as specific clinical entity, disease severity, the child's age, and available support and resources, leading to challenges that significantly impact caregivers' lives. This study investigates whether caregivers of children with different RDs encounter varied aspects of care. : This study was conducted as a self-administered, anonymous, computer-assisted online survey, focusing on the challenges of caregiving for children with RDs. Questions covered aspects such as information availability on RDs, diagnostic processes, modern treatment accessibility, family physicians and specialists, the impact of caregiving on personal life, family dynamics, and financial challenges. To achieve our study objectives, we categorized caregivers of children with RDs into two groups to compare various aspects of caregiving: caregivers of children with phenylketonuria (PKU) ( = 175) and those caring for children with life-limiting rare diseases (LLRD) ( = 226). Caregivers of children with LLRD reported greater emotional challenges, personal sacrifices, and financial burdens compared to caregivers of children with PKU. Significant differences included heightened emotional distress, more frequent conflicts, and lower assessments of healthcare support among LLRD caregivers. Although family support ratings were similar between the groups, perceptions of financial concerns and interactions with the healthcare system varied significantly. : This study, representing the inaugural systematic comparison of specific caregiver cohorts overseeing children with RDs across a substantial sample size, provides valuable insights. The findings lay a crucial foundation for precisely tailoring assistance and support initiatives to meet the unique needs of caregivers facing various RDs in diverse contexts.
罕见病（RDs）的照护经历因特定临床病症、疾病严重程度、儿童年龄以及可用的支持和资源等因素而异，这些因素带来的挑战对照护者的生活产生了重大影响。本研究调查患有不同罕见病的儿童的照护者在照护方面是否会遇到不同的情况。本研究采用自我管理、匿名、计算机辅助在线调查的方式进行，重点关注罕见病患儿照护的挑战。问题涵盖了罕见病信息的可获取性、诊断过程、现代治疗的可及性、家庭医生和专科医生、照护对个人生活的影响、家庭动态以及经济挑战等方面。为实现我们的研究目标，我们将患有罕见病的儿童的照护者分为两组，以比较照护的各个方面：苯丙酮尿症（PKU）患儿的照护者（n = 175）和患有危及生命的罕见病（LLRD）患儿的照护者（n = 226）。与PKU患儿的照护者相比，LLRD患儿的照护者报告了更大的情感挑战、个人牺牲和经济负担。显著差异包括LLRD患儿照护者的情绪困扰加剧、冲突更频繁以及对医疗支持的评价较低。尽管两组之间的家庭支持评分相似，但对经济问题的看法以及与医疗系统的互动存在显著差异。本研究是首次对大量样本中监督患有罕见病儿童的特定照护者队列进行系统比较，提供了有价值的见解。研究结果为精准定制援助和支持措施奠定了关键基础，以满足在不同背景下面临各种罕见病的照护者的独特需求。
