Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome

Abstract

Background The behavioural phenotype of Prader-Willi Syndrome (PWS) implies a specific emotional and social-interactive burden for the caregivers of the individuals with PWS. The aim of the study was to perform an in-depth exploratory analysis of experiences of the familial caregivers of individuals with PWS. Method The study was carried out using a sociological methodology of the grounded theory (qualitative research). A purposively selected sample of 20 familial caregivers of children/adults with PWS was invited to take part in individual, semi-structured in-depth interviews which included questions pertaining to coping with problems arising from the condition, including its impact on social interactions, as well as to the meanings of PWS. Results The core category emerging from our analysis emphasized “experiencing PWS as a crisis”. The phases in the process of experiencing PWS were specified, each of which is characterised by specific cognitive, emotional and social problems, implying relevant requirements in the care of individuals with PWS. I. Crisis in response to the diagnosis; II. Crisis in response to lack of control over the hunger of individuals with PWS; III. Crisis in response to the social milieu’s failure to understand the nature of the condition; IV. Crisis in response to attempts to plan the future of individuals with PWS. The specificity of the PWS caregiver’s experience is primarily determined by the need to reconstruct the entire family’s lifestyle. The experiences of caregivers of PWS persons, at the time when they were available for study, had the characteristics of crisis. Moreover the psychosocial consequences of PWS were not subject to normalization and attempts to attribute any meaningful existential sense to the PWS were ineffective in the time period under scrutiny. Conclusions Identifying phases of the PWS experience process from the perspective of the caregivers of individuals with PWS may be used to profile interventions supporting PWS individuals’ families in a manner corresponding to the flow of the illness experience.

Analysis of the Diet Quality and Nutritional State of Children, Youth, and Young Adults with Prader–Willi Syndrome: A Polish Multiple Case Study

“…This includes maintaining a restrictive yet tailored energy intake while ensuring the intake of essential nutrients. Building upon the experiences of caregivers described in a previous publication by Kowal et al, it is evident that obesity prevention in PWS requires a multifaceted approach, encompassing not only dietary interventions but also behavioral interventions [18].…”

“…Data were collected from a sample of 20 community-dwelling individuals with PWS, comprising 8 females and 12 males, with a mean age of 14.8 years (minimum 2 years 8 months, maximum 28 years, median 14, standard deviation 7.3). These individuals were recruited to participate in this research project as part of a larger sociological study investigating the experiences and quality of life of caregivers of children, adolescents, and young adults with PWS [18]. Each study participant received an individual assessment of their nutritional status and diet quality, along with dietary advice tailored to address any identified irregularities.…”

Invisible patients in rare diseases: parental experiences with the healthcare and social services for children with rare diseases. A mixed method study

“…While several previous studies on the experiences of caregivers, namely parents, of CRDs have been conducted in Poland, including Huntington disease [32][33][34] or Prader-Willi syndrome 35 , most often they focuses either on the challenges and needs related to caring for such a child, caregivers' burden or social functioning of a family whose member experiences RD. However, few data are available on the experiences of CRD caregivers with the healthcare system in Poland 20 .…”

Quality of Life in Children with Prader–Willi Syndrome and the Impact of the Disease on the Functioning of Families

“…A variable determinant in the objective assessment of quality of life for people affected by PWS is the character of the patient in question, his or her personality or situational factors. Individual character traits, temperament and personality determine the meaning that the affected person and their caregivers give to the disease [ 37 ]. The most difficult, and at the same time the most desirable, reaction is the acceptance of the situation by the caregivers, while feeling an active desire to provide rational help and support to their child.…”