The diagnosis of a rare genetic disease in a child, which has complex consequences for the child's life and prevents a normal life, like Prader-Willi syndrome, is a big negative surprise for the primary family. It demands numerous adjustments from the family. The process of diagnosis and coping with the disease triggers various emotions in the family members. These emotions accompany the process of understanding the syndrome and dealing with the various challenges, necessary adaptations and forms of support that each rare disease requires. As early as infancy and toddlerhood and later in childhood, families of people with PWS are confronted with specific developmental patterns and characteristics of the child. This can have a significant impact on the psychosocial well-being and functioning of the entire primary family. The psychosocial well-being of all family members who have a child with a rare disease is closely linked to individual protective and risk factors within the family and wider society. Identifying protective and risk factors allows us to offer more appropriate forms of intervention for all family members. The aim of this case study is to explore the mechanisms for coping with emotions and the diagnosis of Prader-Willi syndrome from the perspective of risk and protective factors in different family members. In addition, we focus on the overall subjective well-being of the individual members of the primary family of a child with Prader-Willi syndrome throughout his development. The results indicate successful coping after a period of processing a wide range of negative emotions, which is significantly supported by close family cohesion, resilience and appropriate coping strategies in dealing with the diagnosis and increased stress levels. Although the family of a child with Prader-Willi syndrome has completed the coping process, they continue to face various challenges during the child’s development that significantly affect their subjective well-being. Our results show that the most important protective factors for optimal subjective well-being are support from family and friends, individual characteristics such as determination, adaptability and self-efficacy, accessible social services and the competence of professionals.
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