Facing ignorance: people with rare disorders and their experiences with public health and welfare services

Abstract

This qualitative study shows that people with rare disorders may experience barriers that can be related to the fact that the disorder is labelled 'rare' when they access health and welfare services. Service-providers within a range of sectors and services seemed to be reluctant to get involved in situations that imply diagnoses that are unknown to them. Further, they seemed to be reluctant to accept information offered to them by the user and they hesitated to seek up information by themselves. If the professionals got involved they tended to base their judgements on their personal assumptions, consequently followed by incorrect actions. The service-providers' negative responses represent a significant barrier for accessing adequate services and assistance for people with rare disorders. These experiences cut across the various disorders in the study and they cut across the various services.

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.…”

Living with a rare disorder: a systematic review of the qualitative literature

“…), treatment‐related uncertainty (Petersen ; Budych et al. ; Grut and Kvam ; Kesselheim et al. ), turnover of healthcare professionals (Vegni et al.…”

“…; von der Lippe et al. ), frustration (Grut and Kvam ; Smith et al. ), and anxiety triggered by uncertainty and lack of knowledge about the rare condition (Frank et al.…”

“…), and anxiety triggered by uncertainty and lack of knowledge about the rare condition (Frank et al. ; Grut and Kvam ; Garrino et al. ; Kesselheim et al.…”

“…People with medical conditions who experienced positive treatment effects, defined themselves as lucky and grateful, and described how this had helped them put their life outcome in perspective (Diesen ). Lack of trust because of experienced medical malpractice led to a need to be in control (Grut and Kvam ). Patients adapted to their surroundings and became an authority themselves (Dures et al.…”