A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Abstract

BackgroundPatients’ stories of their illnesses help bridge the divide between patients and providers, facilitating more humane medical care. Illness narratives have been classified into three types: restitution (expectation of recovery), chaos (suffering and loss), and quest (unexpected positive effect from illness). Undiagnosed patients have unique illness experiences and obtaining their narratives would provide insights into the medical and emotional impact of living with an undiagnosed illness. Adults and children with undiagnosed diseases apply to be evaluated by the Undiagnosed Diseases Network (UDN). Written illness narratives from 40 UDN applicants, including 20 adult probands who applied for themselves and 20 parents who applied for their children, were analyzed for: 1) narrative content and 2) narrative type.Results Narrative content: could be grouped into three themes: 1) Expectations of the UDN: the majority felt they had no further healthcare options and hoped the UDN would provide them with a diagnosis, with the adults expecting to return to their previously healthy life and the parents wanting information to manage their child’s healthcare. 2) Personal medical information: the narratives reported worsening of symptoms and some offered opinions regarding the cause of their illness. The proband narratives had few objective findings, while parental narratives had detailed objective information. 3) Experiences related to living with their undiagnosed illness: frustration at being undiagnosed was expressed. The adults felt they had to provide validation of their symptoms to providers, given the lack of objective findings. The parents worried that something relevant to their child’s management was being overlooked. Narrative type: All the narratives were of the chaos type, but for different reasons, with the probands describing loss and suffering and the parents expressing fear for their child’s future. The parental narratives also had elements of restitution and quest, with acceptance of “a new normal”, and an emphasis on the positive aspects of their child’s illness which was absent from the probands.ConclusionsThese narratives illustrate the chaos that coexists with being undiagnosed. The differences between the proband and parental narratives suggest that these two groups have different needs that need to be considered during their evaluation and management.

New developmental syndromes: Understanding the family experience

“…Uncertainty was another main theme that emerged from the data, and arose from the lack of information of about the child's syndrome. When participants described the emotional impacts of uncertainty they mentioned fear, anxiety, and loss of control, which is consistent with data from parents of children with undiagnosed syndromes (Spillmann et al, ).…”

“…Patients and families dealing with rare diseases face many challenges that impact psychological well‐being such as, social isolation, financial burden, lack of information and access to appropriate health care, delays in diagnosis, and uncertainty (Baumbusch et al, ; Kole & Faurisson, ; Zurynski et al, ). Parents of children with undiagnosed conditions experience uncertainty, fear, and loss of control, as has been demonstrated through illness narratives (Spillman et al, ). For example, parents did not know what to expect and hoped for more information about their child's future.…”

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

“…Participants’ narratives revealed challenging experiences, specifically related to the provision (or lack thereof) of information at time of diagnoses, barriers in accessing certain services, and poor care coordination. Our findings parallel the small but growing body of research about the complex challenges of navigating services, accessing appropriate and effective care (Budych et al ; Grut and Kvam ; Huyard ) and the resultant challenging psychosocial, social, and financial impacts that RDs can have on families (Anderson et al ; Dellve et al ; Spillmann et al ). Given that genetic counselors are in contact with many families, they are in a key position to assist parents with their informational needs before and at the time of diagnosis.…”

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

“…Similar struggles have been described by adults applying to participate in the UDN (Spillmann et al, ). “Illness narratives” written by patients and parents of pediatric patients also show that their descriptions of the medical journey are frequently disorganized and chaotic, and the authors suggest that disorganization likely stems from fear and uncertainty about the unknown, resulting in difficulty communicating relevant symptoms, and concern about leaving out an important piece of information for medical providers (Spillmann et al, ). These concerns and emotions often come to light during patient evaluations and conversations with their families.…”