key: cord-0768248-t5krfqlv
authors: Chung, Claudia CY.; Wong, Wilfred HS.; Fung, Jasmine LF.; Hong Kong, Rare Disease; Chung, Brian HY.
title: Impact of COVID-19 pandemic on patients with rare disease in Hong Kong
date: 2020-09-12
journal: Eur J Med Genet
DOI: 10.1016/j.ejmg.2020.104062
sha: 66e9e4b1f00703f197eb1e7840e60549c6e82b60
doc_id: 768248
cord_uid: t5krfqlv

The COVID-19 pandemic has had significant health, social, and economic consequences internationally. While the pandemic has direct implications on infected patients and families, there is a need to examine the pandemic’s effect on patients with non-COVID-19-related diseases. This study examines the impact of the COVID-19 pandemic on 272 rare disease patients with 89 distinct rare diseases in Hong Kong using a cross-sectional online survey between April 10 and April 29, 2020 from the patient and caregiver perspective. The pandemic has impacted patient’s health status in 46%, service use patterns in 71%, mental health in 79%, daily living in 82%, social life in 92%, and financial status in 81% of patients. Patient’s health status, medical and rehabilitation, and mental health were more impacted by the COVID-19 pandemic in the group of patients with any level of dependency according to the Barthel Index for Activities of Daily Living compared with that in the group of patients who are fully independent (p<0.0001; p<0.0001; p=0.0420). This study is the first study to examine the impact of COVID-19 pandemic on the rare disease population in Hong Kong, and demonstrates the pandemic’s effect on service and resource utilization, and patient’s physical and mental well-being.

With over 25.6 million confirmed Coronavirus disease 2019 (COVID-19) cases worldwide as of September 2, 2020, it is not to our surprise that the COVID-19 pandemic has had significant global impact on infected patients, families, healthcare systems, communities, and the economies. Hong Kong is a Special Administrative Region of China that is located in Southern China, neighboring Guangdong province. COVID-19 was first confirmed to have spread to Hong Kong on January 23, 2020. As of September 2, 2020, Hong Kong has recorded 4,823 confirmed COVID-19 cases and 90 deaths, which was the highest in China outside of Hubei. The "Preparedness and response plan for novel infectious disease of public health significance" was raised to emergency response level in healthcare settings on January 25, 2020, in which hospitals were required to suspend all nonessential visits, reduce non-emergency services, and postpone elective surgeries to focus manpower and resources on combating COVID-19. Schools and civil services have been suspended since January 25 and January 29 respectively because of social distancing. There has been a shortage of personal protective equipment (PPE) including face masks and hand sanitizers in the market as people in Hong Kong are worried about COVID-19 infection and have been stocking up protective gears. Up to 10,000 people were in a queue for hours or even overnight to purchase PPE. 1 The impact of the pandemic is beyond patients with COVID-19. This has affected patients with non-COVID-related diseases such as cancer, 2 developmental and epileptic encephalopathies, 3 J o u r n a l P r e -p r o o f and ST-segment-elevation myocardial infarction. 4 The impact of this pandemic is important to be assessed in the rare disease population, a relatively vulnerable group of patients. Rare disease is defined to affect fewer than 5 per 10,000 people in the European population according to the World Health Organization. 5 The total number of rare diseases is estimated at 5,000 to 8,000. They are individually rare, but collectively rare diseases affect 6-8% of the European population. 6 In Hong Kong, one in 67 is living with at least one rare disease, representing 1.5% of the population. 7 With majority of the rare diseases being chronically debilitating or life threatening, healthcare resource reallocation and public gathering restrictions during the pandemic may exacerbate the difficulties this population is facing and pose significant risk on patient's health and social well-being. Kong and it links with Asia Pacific and international rare disease groups. All patients and caregivers were informed of the study's objectives and data confidentiality standards, and informed consent was obtained from all participants from the survey.

A structured online quantitative survey comprising of 37 questions was distributed to the participants through internet-based sources. For rare disease patients who were under the age of 18 at the time of the study period or who were mentally or physically incapable of survey self-completion, the survey was completed by their parent or caregiver. The survey included questions regarding patient's demographic characteristics, health status, service use patterns, reasons for reduced service use, daily living and social life, and financial status from the patient or caregiver perspective. Participants were also asked to complete the Barthel Index for Activities of Daily Living (ADL) for the patient, which measures a person's ability to perform ten J o u r n a l P r e -p r o o f basic activities of daily living and provides a quantitative estimate of the subject's level of dependence. Rare diseases were categorized according to the 10 th version of the International Classification of Diseases and Related Health Problems (ICD-10) and were described previously. 7 Fisher's exact test was performed to detect any association of health status, medical rehabilitation, mental health, daily life, social life, financial status between the group of patients who are fully independent and the group of patients with any level of dependency according to the Barthel Index for ADL. A p-value of ≤0.05 was judged to be significant.

Between April 10 and April 29, 2020, a total of 272 responses were collected, of which 170 (63%) were from rare disease patients, and 102 (38%) were from caregivers of patients with rare diseases. The rare disease patients and carers are totally independent. The basic demographics of the 272 patients were summarized in Table 1 . There are a total of 89 distinct rare diseases included in this cohort, with the most rare diseases being a type of rare neurological disease (55%), followed by rare developmental defect during embryogenesis disease (14%), and rare inborn errors of metabolism disease (12%) ( Table 1) . Among all patients, 79% have a certain degree of disability, of which, 33% have more than one disabilities. Of those with disabilities (n=214), the top three disabilities were found to be physical disability (63%), visceral disability (18%), and intellectual disability (16%). According to the Barthel Index for ADL, 98 (36%) (n=229), 71% claimed that service use was reduced due to COVID-19, of which, 59% were significantly reduced or completely halted. Medical and rehabilitation services reduction or cancellation were also seen in non-governmental organizations (community 79%, homecare 75%), special education units (77%), and the private sector (63%). The most frequently identified reason for appointment delay or cancellation was the concern of the risk of COVID-19

infection at the service units (67%), followed by being concerned of the risk of COVID-19 infection in public transport (43%), service units unable to provide services (42%), lack of protection gear (22%), financial factors (13%), poor mental health or unstable mood problems (10%), and caregiver unable to accompany the patient (9%).

Health status was impacted in 46% of all patients due to reduced service provision, of which 81% claimed that their health status was slightly worse and 19% claimed that their health status was worse. The fisher exact test demonstrated that there was a significant association of slightly worsen or worse health status during the pandemic in the dependency group compared with that of the fully independent group of patients (p<0.0001) ( Table 2 ). In addition, 79% of the patients claimed that their mental health was affected by the COVID-19 pandemic, especially those who are severely dependent (85%) and totally dependent (97%). Patients' mental health was more impacted in the dependency group compared with that of the fully independent patients (p=0.042). Furthermore, medical and rehabilitation were impacted in 78% of all patients. There was a statistically significant association between affected medical and rehabilitation and patients who are of any level of dependency compared with that in patients who are completely independent (p<0.0001). Among those who claimed that medical and J o u r n a l P r e -p r o o f rehabilitation were affected by the COVID-19 pandemic (n=212), 41% claimed that the pandemic had a huge or significant impact on their medical and rehabilitation. The impact was seen to be the most serious in the groups of patients who are severely dependent and totally dependent on their carers, in which 95% and 94% of the their medical and rehabilitation were affected respectively. Furthermore, patient's daily living, social life, and financial status were also impacted by the pandemic, affecting 89%, 92%, and 81% of the patients, respectively, though the association between the level of independence and these outcomes were not statistically significant at J o u r n a l P r e -p r o o f p≤0.05. Those who are severely dependent or totally dependent on their carers were seen to be affected the most in these areas. In particular, social lives of 100% of the severely dependent and 97% of the totally dependent group of patients were affected. Family income was reduced in 56% of all patients, while expenditure was increased in 57%, with the top three highest expenditure spent in purchasing self-protection resources such as face masks and hand sanitizers, general family expenditure, and study/ work-from-home resources. Over 30% and 20% of the patients claimed to be in shortage or extreme shortage of face masks and disinfecting wipes, respectively.

This study demonstrated the patients and caregivers perception of the pandemic's impact on rare disease patient's health and social well-being in two levels: the effect brought about by the closure of public healthcare services, and the perceived risk of infection from patients and carers. Currently, this serves as the only evidence of COVID-19 in this vulnerable population in Hong Kong. Some of the research findings have been reported in a press release by RDHK. 9

Rare disease patients with appointments in hospitals were experiencing specific difficulties.

Getting access to healthcare became more difficult due to patients and carers' perceived risk of COVID infection and healthcare resource allocation to reduce non-emergency services. 

Coronavirus: desperate scenes as 10,000 queue for masks at Hong Kong industrial estate. South China Morning Post

Genetic epilepsies and COVID-19 pandemic: Lessons from the caregiver perspective

COVID-19) Outbreak on ST-Segment-Elevation Myocardial Infarction Care in Hong Kong

World Health Organization. 6.19 Rare diseases

on European action in the field of rare diseases

Healthcare burden of rare diseases in

Hong Kong -adopting ORPHAcodes in ICD-10 based healthcare administrative datasets

The authors would like to acknowledge Rare Disease Hong Kong for participant recruitment.The authors would also like to thank all the patients and caregivers who participated in this study.

The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.

The authors declare that they have no competing interests.

Not applicable