Needs of informal caregivers of people with a rare disease: a rapid review of the literature

Abstract

ObjectivesMany people living with a rare disease (RD) are cared for by a family member. Due to a frequent lack of individual RD knowledge from healthcare professionals, the patient and their informal caregiver are frequently obliged to become ‘experts’ in their specific condition. This puts a huge strain on family life and results in caregivers juggling multiple roles in addition to unique caring roles including as advocate, case manager and medical navigator. We conducted a rapid review of literature reporting on the unmet needs of informal caregivers for people living with an RD. All searches were conducted on 14 September 2021, followed by a manual searches of reference lists on 21 September 2021.SettingSearches were conducted in Medline, Embase, Web of Science, GreyLit and OpenGrey.ResultsThirty-five papers were included in the final review and data extracted. This rapid review presents several unmet needs identified by informal caregivers of persons with an RD. The related literature was organised thematically: caregiver burden, support through the diagnosis process, social needs, financial needs, psychological needs, information and communication needs and acknowledgement from healthcare professionals.ConclusionsThis review provides evidence that increased meaningful support is required for caregivers. Active engagement should be encouraged from this cohort in future research and awareness raised of the support available to improve the quality of life for families living with an RD. The unmet needs identified through this review will benefit people living with an RD, caregivers, healthcare professionals and policy makers.

Caregiver Burden and Its Relationship to Health-Related Quality of Life in Craniopharyngioma Survivors

“…This difference in scores could reflect the disparity between caring for a person with a genetic neurodevelopmental disorder characterized by severe clinical manifestations from birth, as opposed to caring for a person with a condition often diagnosed later in childhood (9.3 years in this study) and whose clinical severity and manifestations vary significantly with tumor size, tumor location, and treatments ( 11 ). Nonetheless, based on the ZBI cutoff score defined by Schreiner, about 80% of caregivers in our study could be at risk for depression ( 38 ), warranting further assessment of QOL for caregivers of CP survivors ( 55 ).…”

Developing a community-led rare disease ELSI research agenda

“…The agenda in turn can guide patient-centered research that will address the ELSI and care challenges that are most important to patients and their families in our region. Despite the local focus of our engagement, we expect many of the overarching topics will be important to rare disease patients and families beyond our region based on their overlap with other literature [ 15 , 16 ]. However, as prioritizations and specific proposed research questions may well differ by region and population, replication of these engagement methods in other localities and groups is needed.…”

“…Yet a growing recognition of the need to consider the patient experience as a whole has expanded the conceptualization of ELSI to include any challenge of living with rare disease that has ethical and/or psychosocial implications for patients and their families [ 14 ]. ELSI are often shared across rare diseases, irrespective of whether an underlying or genetic diagnosis is obtained [ 15 – 17 ]. Furthermore, the rarity of a disease can both exacerbate and bring a need for nuanced consideration to these issues [ 18 ].…”

Symptom burden in patients with idiopathic multicentric Castleman disease and its impact on daily life: an international patient and caregiver survey

“…Several published studies in rare diseases have shown that long-term care for an affected family member can negatively influence caregivers' physical, social, and emotional wellbeing, often resulting in reduced quality-of- life. 22 , 23 The MCD-SS did not explore the impact of symptoms on informal-caregivers. Incorporating patient and caregiver perspectives on the impact of the fluctuating nature of iMCD symptoms can facilitate timely initiation of treatment, better symptom monitoring, early detection of flare ups, and shared care leading to greater patient satisfaction and improved physician-patient communication.…”