Introduction: Prader-Willi syndrome is a rare genetic disease characterized by a disorder of the hypothalamic-pituitary axis. During the neonatal period, central hypotonia and malnutrition problems are present. After the age of 2, body weight begins to increase, hyperphagia occurs, which without supervision leads to obesity. The disease severely affects not only the patient but the whole family and parents often do not receive sufficient support. Purpose: With this thesis, we wanted to present Prader-Willi syndrome and explore the experiences of parents regarding support they received from healthcare workers during infancy. We also want to find out what is the role of a midwife in case of the birth of a child with the mentioned syndrome. Methods: In the first part, a descriptive method of work with a review of professional and scientific literature was used. In the second, empirical part, we used a quantitative method of work and created an online survey questionnaire, which we forwarded to parents of children with Prader-Willi syndrome. The results were processed by quantitative analysis. Results: We found that most parents could not declare whether they were satisfied or not with the emotional support, information about the child's condition and the midwife’s empathy in the delivery room in case their child was admitted to intensive care immediately after birth. Skin contact with a child in intensive care was provided to more than a quarter of the parents surveyed. All mothers were allowed to visit their child in intensive care and pump milk. Overall, parents experience regarding healthcare workers support during infancy and at diagnosis is good. Parents pointed out a gap in the knowledge and experience of healthcare workers and a lack of literature on the syndrome in the Slovenian language. The study showed that parents who had received the diagnosis earlier were more satisfied with the support of healthcare workers. Discussion and conclusion: Early support provided to parents can have a major impact on future acceptance of illness. Midwives should pay more attention to emotional support, empathy, information provision, and skin contact immediately after birth. More effort should be invested in providing literature on the syndrome in the Slovenian language. Healthcare workers should be better aware of the specifics of dealing with a rare disease and also provide lifelong learning. It is important to guide the patient and his family to a credible source of information.
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