Baumbusch Jennifer, Mayer Samara, Sloan-Yip Isabel
School of Nursing, University of British Columbia, T201 - 2211 Wesbrook Mall, Vancouver, BC, V6T 2B5, Canada.
J Genet Couns. 2018 Aug 21. doi: 10.1007/s10897-018-0294-9.
A disorder is considered a rare disease if it affects 1 in 2000, hence, while independently unique, collectively, these conditions are quite common. Many rare diseases are diagnosed during childhood, and therefore parents become primary caregivers in addition to their parental role. Despite the prevalence of rare diseases among children, there has been little research focused on parents' experiences of navigating the healthcare system, a gap we begin to address in this study. Guided by an interpretive description methodology, participants were recruited through online listservs and posting flyers at a pediatric hospital in Western Canada. Sixteen parents (15 mothers and 1 father) participated in in-depth, semi-structured interviews between April 2013 and March 2014. Data were analyzed inductively, generating the main study themes. Findings illuminated the challenges parents' experienced on their child's diagnostic journey-from seeking, to receiving, to adjusting to the rare disease diagnosis. Following diagnosis, gaps, and barriers to services resulted in parents pursuing services that could support their child's unique care needs, which often resulted in out-of-pocket payments and changes to employment. Parents found peer support, both online and in person, to be an effective resource. This study illustrates the common challenges experienced by parents of children with rare diseases as they navigate the healthcare system. Parents' role as "expert caregiver" was rarely acknowledged by healthcare providers, pointing to the need to foster more egalitarian relationships. As well, parents were burdened with the additional role of care coordinator, a role that could be filled formally by a healthcare provider. Lastly, peer support was a key resource in terms of information and emotional support for parents who often begin their journey feeling isolated and alone. Policies and programs are needed that validate the invisible care work of parents and ensure adequate formal supports are in place to mitigate potential sources of inequity for these families. Furthermore, genetic counselors can play a key role in ensuring parents' informational needs are addressed at the time of diagnosis and in connecting families who share common experiences regardless of the rare disease diagnosis.
如果一种疾病的发病率为两千分之一，那么它就被视为罕见病。因此，虽然这些疾病各自独特，但总体而言却相当常见。许多罕见病在儿童时期就被诊断出来，所以父母除了承担父母的角色外，还成为了主要照顾者。尽管儿童中罕见病很普遍，但针对父母在医疗系统中就医经历的研究却很少，本研究开始填补这一空白。在解释性描述方法的指导下，通过在线邮件列表和在加拿大西部一家儿童医院张贴传单招募了参与者。2013年4月至2014年3月期间，16位家长（15位母亲和1位父亲）参与了深入的半结构化访谈。对数据进行归纳分析，得出了主要研究主题。研究结果揭示了父母在孩子诊断过程中所经历的挑战——从寻求诊断、接受诊断到适应罕见病诊断。诊断之后，服务方面的差距和障碍导致父母寻求能够满足孩子独特护理需求的服务，这往往导致自掏腰包支付费用并改变就业状况。父母发现，线上和线下的同伴支持都是有效的资源。本研究说明了患有罕见病儿童的父母在医疗系统中就医时所面临的常见挑战。医疗服务提供者很少认可父母作为“专业照顾者”的角色，这表明需要建立更加平等的关系。此外，父母还承担了护理协调员这一额外角色，而这一角色本可由医疗服务提供者正式承担。最后，对于那些在旅程开始时常常感到孤立无援的父母来说，同伴支持在信息和情感支持方面是关键资源。需要制定政策和项目，认可父母无形的护理工作，并确保有足够的正式支持措施，以减轻这些家庭潜在的不平等根源。此外，遗传咨询师在确保父母在诊断时的信息需求得到满足以及将有共同经历的家庭联系起来方面可以发挥关键作用，无论这些家庭所患的罕见病诊断如何。
