Needs of people with rare diseases that can be supported by electronic resources: a scoping review

Abstract

ObjectivesRare diseases are characterised by low incidence, often with little evidence for effective treatments. Isolated patients and specialist centres for rare diseases are increasingly connected, thanks to the internet. This scoping review aimed to identify issues facing people with a rare disease that authors report may be addressed by electronic resources (mobile applications, websites, social media platforms, telehealth and online portals).DesignScoping review guided by the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines.Data sourcesMedline, Embase and PsycInfo were searched, supplemented by hand searches of selected journals, in July 2021.Eligibility criteriaPeer-reviewed literature in English was searched using terms for rare disease (incidence <1:2000), electronic modalities (eg, mobile phone) and patient support terms. No date limit was set. Conference abstracts were included.Data extraction and synthesisData extracted: rare disease/group of diseases, name of the e-resource, need identified in the patient cohort, features of the e-resource, any other findings or observations of interest. From this, a framework was developed synthesising features across diseases and resources.ResultsSeventy-two papers were found (from 383). Fifty-six electronic resources were described in 64 papers, while 12 papers were exploratory studies. Cystic fibrosis (n=28) was the most frequently addressed, followed by haemophilia (n=16).Four domains and 23 subdomains of needs were extracted from the papers. The domains of needs were: support for self-management, access to high-quality information, access to appropriate specialist services, and social support. Subdomains are sometimes related to needs of individual rare diseases (eg, social isolation due to infection risk in people with cystic fibrosis). Fifteen electronic resources were identified that supported parents of children with rare disorders.ConclusionsWhile it can be argued that rare diseases, per se, may be no less distressing or onerous to care for than a high prevalence disease, rare diseases have unique features: the lengthy odyssey to find a diagnosis, then appropriate specialists, the lack of evidence around effective treatments, guidelines or access to knowledgeable general health service providers. Designers of electronic resources are urged to consult key stakeholders to enhance the effectiveness and usability of resources for people with a rare disease.

‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases

“…Studies have shown that actively involving and empowering young people in medical decision‐making and assent processes is valued and associated with lower decisional conflict. 23 , 24 , 25 …”

“…Studies have shown that actively involving and empowering young people in medical decision-making and assent processes is valued and associated with lower decisional conflict. [23][24][25] While professionals and carers were consistent in prioritising and transparency. 26 While families with high health literacy may proactively seek therapeutic options for their children, social selectivity is a well-known aspect of clinical trial enrolment.…”

“…Moving forward, the development of educational resources for young people is also essential. Studies have shown that actively involving and empowering young people in medical decision‐making and assent processes is valued and associated with lower decisional conflict 23–25 …”

The importance of patient‐specific resources for families dealing with prenatal rare diseases

“…Without a doubt, the parent resources that were shared with us made the biggest difference.Patient Advocacy Organizations (PAO) are an indispensable resource for parental emotional support during their journey. Patients and parents often report feelings of isolation, especially in cases where their child may be affected by an extremely RD (Baumbusch et al, 2019; Long et al, 2022). These organizations can help families connect with one another to talk about shared experiences and provide resources about the medical condition both for families and practioners not familiar with the RD, psychosocial supports, and information for siblings.…”

“…This means that parents must go to specialists, and depending on the disease, specialists may also be scarce. This proves to be difficult for families living in remote locations especially when specialists are located solely in cities (Long et al, 2022). In one study of patients seen by telemedicine or in person by clinical pediatric genetics at a tertiary care center, the mean distance (as the crow flies) from the patient's home to hospital was 126 km with a standard deviation of 323 km (Szigety et al, 2022).…”