Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases

Abstract

The COVID-19 pandemic transformed the delivery of healthcare across the world. Telehealth has emerged as the primary method for providing healthcare early in the pandemic. Patient and healthcare provider views of the effectiveness of telehealth services are encouraging and support the long-term use of telehealth services in clinical practice. Telehealth may provide a strategy that has far-reaching benefits for diverse patient populations, such as patients with Batten disease and other rare diseases, who face additional barriers to accessing subspecialty healthcare services. The aims of this paper, through the experience of a single Batten Disease Center of Excellence, are to (1) review the benefits and barriers involved in the delivery of telehealth services to patients with rare diseases; (2) discuss components of a model for clinical care that utilizes telehealth services for patients with Batten disease; (3) discuss limitations and future directions of using telehealth in patients with rare diseases. Healthcare systems should consider building clinical models that utilize telehealth services to provide multidisciplinary services to patients with rare diseases. There are numerous benefits in using telehealth that can enhance and expand service delivery between the patient and clinician. Telehealth services can also improve provider-to-provider communication and collaboration when providing clinical care to individuals with rare diseases. Although there are many benefits to utilizing telehealth services in provision of care to patients with rare diseases, it is important to consider factors that may limit or add additional barriers prior to implementing telehealth services. There is a need for future collaborative research to examine and compare the effectiveness and outcomes of telehealth services with standard of care services that are provided in-person. Future research should also examine how to reduce the challenges and barriers associated with the implementation of telehealth services. Plain language summary What is telehealth? Telehealth is defined by the US Department of Health Resources and Services Administrations1 as the “use of electronic information and telecommunication technologies to support long-distance clinical healthcare, patient and professional health-related education, public health, and health administration. Technologies include video conference, the internet, store-and-forward imaging, streaming media, and terrestrial and wireless communication.” What was the aim of this review? This review was conducted to guide a clinical model using telehealth services for patients with Batten disease and other rare diseases based on the experiences of a single Batten Disease Center of Excellence. Why is this important? Individuals with rare diseases may face multiple barriers to accessing clinical services. Local doctors and treatment providers, such as speech therapists, occupational therapists, physical therapists, and psychologists, may not have knowledge of rare diseases or how to manage symptoms and disease progression, or how to guide treatment services. Other barriers may also include: • Lack of local resources; • Increased caregiver stress; • Difficulty obtaining a correct diagnosis. There are numerous benefits to using telehealth services for both patients with rare diseases, such as: • Convenience; • Cost savings; • Improved access to care; • Ability to see multiple providers that can help with symptom monitoring, assessment, and treatment services. Where do we go from here? It is important to consider limitations when creating a model for clinical care for patients with rare diseases. Some limitations to think about are: • Clinician and organization familiarity with telehealth; • Reimbursement and coverage from insurance companies for telehealth; • Security and privacy of patient information; • Training of telehealth providers; • Logistical factors, including use of equipment, internet/connectivity, and technical troubleshooting. Future directions should involve collaborative research that studies the effectiveness, feasibility, and perceptions of families of rare diseases and providers that use telehealth for clinical healthcare services. Research should also further study and consider ways to improve barriers and challenges associated with implementing telehealth systems into existing healthcare systems.

Caring for People with Rare Diseases: A Systematic Review of the Challenges of, and Strategies for Dealing with, COVID-19

“…Of these ten documents, five were from England [9,10,14,23,24], three were from Italy [5,7,11], two were from Germany [8,25], and one was from Norway [13]. After Europe, two articles were from North America [12,18], one was from Asia (Hong Kong) [26], one was from the Asia-Pacific region [17] (based on data from Australia, Hong Kong, India, Japan, China, Malaysia, New Zealand, the Philippines, Singapore, and Taiwan), one was from South America (Brazil) [6], and, finally, there was one that took a broad global perspective [19].…”

“…Regarding RDs, nine documents approached the theme in a broad, general way [6,8,[12][13][14]17,19,25,26], while the rest focused on one or two diseases or on a specific group of diseases per publication. The RDs mentioned in the articles were hereditary haemorrhagic telangiectasia (HTT) [5], lysosomal storage disorder (LSD) [7], Batten disease [18], interstitial cystitis/bladder pain syndrome (IC/BPS) [11], osteogenesis imperfecta [10], congenital surgical diseases [25], oesophageal atresia/tracheo-oesophageal fistula (OA/TOF) [9], rare neurogenetic conditions [24], and macrocytosis [23].…”

“…The publications addressed the relationship between COVID-19 and RDs from different perspectives, choosing to focus on patients, families/relatives/caregivers (FRCs), RD organisations, and intervention issues. In particular, seven documents considered the patient's perspective [6,7,10,12,13,23,26], five focused on FRCs [8,9,14,24,25], four assessed interventions [5,11,18,19], and one examined an RD organisational perspective [17].…”

“…Organisations dealing with RDs faced many challenges during the pandemic due to a lack of personnel, inadequate funding, and concerns about the well-being of patients who could not, or found it increasingly difficult to, access mandatory healthcare programmes or psychological support [17]. To offset some of these challenges, the healthcare community began to implement different kinds of telehealth and telemedicine [10,18,19], which seemed to be viable options that should steadily be introduced into healthcare systems, although they could not address all problems and needed to be broadly implemented to be fully effective [20]. There was also a need for psychological support to help patients with RDs, their caregivers, and their families cope with the changes and difficulties that arise during crises in the clinical and social spheres, and to help them make full use of the resources available [12].…”

Key challenges for hub and spoke models of care – A report from the 1st workshop of the EHC Think Tank on Hub and Spoke Treatment Models

“…Any redistribution of financial and human resources must be undertaken in a balanced manner. Greater use of new technologies could be one option for maintaining services [15][16][17] . The key stakeholders in these decisions will be patients' and doctors' organisations, governments, treatment centres, health insurance agencies and the pharmaceutical industry.…”