Being a Mother of a Child with Prader-Willi Syndrome: Experiences of Accessing and Using Formal Support in Croatia

Daria Čagalj,Marko Buljevac,Zdravka Leutar

doi:10.16993/sjdr.13

Daria Čagalj, Marko Buljevac + Show 1 more

Open Access

https://doi.org/10.16993/sjdr.13

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Abstract

The aim of this qualitative study is to obtain insight into the experiences of mothers of children with PWS with the formal support system in Croatia. The study was conducted in 2013 with five mothers of children with PWS. Thematic analysis was used as the analytic method. The results highlight four major themes related to mothers’ experience of accessing and using formal support: professionals’ lack of knowledge about PWS results in living without support; professionals’ lack of empathy; professionals’ commitment to improve the well-being of families; and getting support through membership in the Association of Persons with PWS Croatia. The social support in Croatia is defined by the lack of knowledge and lack of empathy of professionals, which results in disrespect for the human rights and dignity of children with PWS. Raising the awareness about PWS is crucial for improving the quality of life of families living with PWS.

Highlights

Rare diseases are mostly inherited and life threatening (Knight and Senior 2006; Grut and Kvam 2013; European Commission 2015), with prevalence that is five out of every 10,000 persons (Orpha.net 2012)
The results concerning accessing and using formal social support are presented in chronological order based on participants’ need for formal support services: participants’ experiences of accessing and using support provided by obstetricians on a maternity ward; support provided from physicians, social workers and teachers when Prader-Willi Syndrome (PWS) was diagnosed; and lastly support from mothers who have children with PWS
The participants’ first experiences with the formal support system demonstrate obstetricians’ lack of knowledge about PWS: At the maternity ward I asked to speak to a paediatrician and I told him that something was wrong with my child, but he said that everything was normal – it had just been a difficult birth

Summary

Introduction

Rare diseases are mostly inherited and life threatening (Knight and Senior 2006; Grut and Kvam 2013; European Commission 2015), with prevalence that is five out of every 10,000 persons (Orpha.net 2012). One of them is Prader-Willi Syndrome (PWS) with an estimated prevalence of one out of every 10,000–30,000 persons (Yearwood et al 2011; Cassidy et al 2012; Orpha.net 2014). Typical behavioural phenotype includes temper tantrums, stubbornness, manipulative, compulsive and oppositional behaviours, aggression, self-injurious behaviour, and sleep abnormalities (Cassidy and Driscoll 2009; Wulffaert, Scholte and Van Berckelaer-Onnes 2010; Cassidy et al 2012) These problems result in lower quality of life (Caliandro et al 2007; Driscoll et al 2014)

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Conclusion