Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare System

Abstract

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.

Living with epidermolysis bullosa: Daily challenges and health‐care needs

“…One solution to this could be the development of a co‐ordinator role that bridges the gap between community and specialist services similar to a role that exists in EB services in the Netherlands . This role, which is advocated more widely internationally for patients with other rare conditions, includes co‐ordinating and communicating care needs to relevant care providers and acting as a point of contact …”

New developmental syndromes: Understanding the family experience

“…Participants searched the Internet, asked health care professionals, or hoped to identify other families in order to learn more about the condition. Seeking information may represent one of the ways these families cope with uncertainty due to the lack of information, as has been described in parents of children who underwent WES (Krabbenborg et al, 2016) and with rare diseases (Baumbusch et al, 2018). Furthermore, it is known that the search for knowledge contributes to the process of empowerment for patients receiving genetic counseling and parents of children undergoing (McConkie-Rosell & Sullivan, 1999;Rosell et al, 2016 Instead, the value of the diagnosis was related to finding the cause of their child's condition.…”

“…For families with rare diseases and new syndromes, social networking is often a valuable strategy to connect with families with the same syndrome (Baumbusch et al, 2018;Chong et al, 2016;Levenson, 2016). Facebook (https://www.facebook.com/) is a social networking website where parents can create and join support groups related to their child's syndrome.…”

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

“…Key steps leading to empowerment are acquiring new knowledge, confidence in oneself to manage emotionally the life or health challenges that are being presented, and connecting to and learning from similar others . Parents of children with chronic or rare disorders report not having the tools needed to be successful in formulating next steps, face challenges in coordinating complex medical care with multiple providers, limited opportunities to connect to and learn from other parents, as well as little information on the long‐term consequences or medical management of the child's condition . With less than half of children undergoing genomic sequencing obtaining a diagnosis and with these diagnoses likely to be rare, ultra‐rare, or unique disorders for which little is known, high parental expectations and importance placed on a diagnosis are unlikely to be met .…”

“…21,23,37 Parents of children with chronic or rare disorders report not having the tools needed to be successful in formulating next steps, face challenges in coordinating complex medical care with multiple providers, limited opportunities to connect to and learn from other parents, as well as little information on the long-term consequences or medical management of the child's condition. 6,38,40 With less than half of children undergoing genomic sequencing obtaining a diagnosis and with these diagnoses likely to be rare, ultra-rare, or unique disorders 41 for which little is known, high parental expectations and importance placed on a diagnosis are unlikely to be met. 6,42 Thus, challenges may exist for each step in the process toward parental genomic health care empowerment.…”