Abstract
The first pandemic lockdown dramatically impacted many aspects of everyday life, including healthcare systems. The purpose of this study was to identify problems of patients with phenylketonuria (PKU) and their parents/caregivers during that time. We aimed to analyse potential differences in the self-reported compliance and characteristics of contacts with a doctor/dietitian before and during the pandemic lockdown and the perception of access to special food and opinions on remote contacts between a particular group of respondents. All participants (n = 614) were asked to complete an online questionnaire that consisted of 31 questions on pandemic-related events and circumstances which may have directly or indirectly impacted health and treatment. The people who completed the survey were divided into three groups: parents of PKU children (n = 403), parents of PKU adults (n = 58) and PKU patients older than 16 years (n = 153). The differences among the three analysed groups were found in the number of contacts, the way of contacting a doctor/dietitian during the pandemic and satisfaction with remote contact. Caregivers of children with PKU reported better therapy compliance, more frequent contacts with specialists and more satisfaction with remote visits than adult patients. We also observed a relationship between satisfaction from remote contact and self-reported frequency of contacts with a doctor/dietitian, as well as a relationship between satisfaction from remote contact and recommended blood Phe levels reported by both patients and caregivers. Travel time exceeding three hours from the respondents’ location to their doctor was associated with higher odds of their recognition of remote contact as a method of PKU treatment only in the group of caregivers. In the caregiver groups, the reported worse access to low-Phe products during the lockdown was linked to the perceived difficulty of maintaining the diet. However, such a relationship was not found among patients. In conclusion, significant differences in the perception of the pandemic lockdown and its impact on health and treatment-related issues were found.
Highlights
According to the 2020 NORD survey [1] of those affected with rare disorders, their caregivers and families, 79% had a medical appointment cancelled due to COVID-19, 83% were offered a telephone or video call as an alternative to an in-office appointment and as many as 62% were concerned with medication supply shortages
We collected our data in the time period 15 June–20 July 2020, except for one PKU treating centre that communicated with their patients via website only, which led to delays in survey distribution, so we decided to include questionnaires completed until the end of August
Respondents from group 3 reported the best results of self-reported blood Phe levels before the pandemic, with 74.4% of them reporting Phe levels as recommended
Summary
According to the 2020 NORD survey [1] of those affected with rare disorders, their caregivers and families, 79% had a medical appointment cancelled due to COVID-19, 83% were offered a telephone or video call as an alternative to an in-office appointment and as many as 62% were concerned with medication supply shortages. The results of the Rare Diseases Ireland survey [2] indicated that 73% of the respondents were worried about their health, 53% of scheduled appointments across all healthcare settings had been cancelled and 26% of patients encountered difficulties accessing medicines and medical supplies. The Italian National Institute of Health Rare Diseases COVID-19 Working Group [3] reported that 52% of the respondents had given up hospital treatment to prevent exposure to infection, while 46% had problems with their continuity of care or treatment due to outpatient facilities being closed by government decree. The difficulties with the personal access of PKU patients to their specialist doctors and nutritionists began in February and March, depending on the region of the country and the specifics of a particular hospital
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