Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic

Abstract

BackgroundResearch on the effects of the COVID-19 pandemic on people with rare diseases is limited. Few studies compare healthcare throughout the progression of the ongoing pandemic.AimsTo assess the impact of the pandemic on individuals with osteogenesis imperfecta across two consecutive years, understand what challenges were encountered, and analyse the experience of remote consultation.MethodsAn initial survey was distributed following the first lockdown in August 2020, and a second survey in April 2021. The surveys explored four themes- effects on therapy, alternatives to consultation, effect on mental health, and perceived risks of COVID-19.ResultsIn the 2020 survey, of the 110 respondents, 69 (63%) had at least one appointment delayed due to the lockdown, compared with 89 of the 124 respondents (72%) in 2021. Of the 110 respondents in 2020, 57 (52%) had a remote consultation, increasing to 92 of 124 (74%) in the follow-up survey. In the 2020 survey 63 of 91 respondents (69%) expressed anxiety due to lockdown, compared with 76 of 124 (61%) in 2021. The percentage of total respondents expressing a preference for remote consultation was 48% in 2020, increasing to 71% in 2021.ConclusionsThe pandemic has had widespread effects on the mental and physical health of those with OI. These effects, alongside appointment delays, have increased as the pandemic progresses. Encouragingly, the increasing preference for remote consultation may indicate that this could be a viable long-lasting alternative to face-to-face appointments, especially for patients who previously traveled vast distances for specialist care.

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

“…The geographical distribution of data in the studied material showed a prevalence of research in continental Europe, with 61.1% of the total yield of studies coming from this region. 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].…”

“…We searched the Google Scholar, PubMed, and Scopus databases using 'COVID-19', 'rare diseases', and 'psychology' as keywords, which yielded 217 articles in Google Scholar, 11 in Scopus, and 7 in PubMed. Many of the selected articles examined the impact of COVID-19 on loneliness [5][6][7][8], social isolation [7,9,10], depressive moods [6][7][8]10], distress [7,8,11,12], and anxiety [7][8][9][10]13] in patients with RDs, the people involved with them, and the psychological burden the disease imposed [8,14]. Loneliness and social isolation, although different, are often connected and are already an important social problem, which the pandemic exacerbated [15], especially for the most fragile people in society.…”

“…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].…”