Introduction: CHARGE syndrome is a rare genetic defect caused by a mutation in a gene that affects several organs in the body. A child born with this will receive long-term treatment for long-term surgery syndrome and, consequently, permanent hospitalization. Individual treatment of the child and his family with a multidisciplinary team is needed. The instructions in family-oriented care should be followed during the treatment. A child with CHARGE syndrome is lifelong dependent on the help of his family. Objective: The purpose of this thesis is to describe the family of a child with CHARGE syndrome. The purpose of the diploma work is to describe CHARGE syndrome and family life on the basis of interviews with the mother of a child with CHARGE syndrome. Methods used: The diploma thesis uses a descriptive method of work with a review of literature in English and Slovenian and a case study. The example is presented with the help of an interview, using a semi-structured questionnaire. Discussion and conclusion: CHARGE syndrome is a condition caused by a mutation in the CHD7 gene. A child born with this syndrome spends a lot of time in hospitals in need of surgery and multidisciplinary treatment. Family care based on trust between the family and healthcare professionals is important when treating a child. For a family of children with CHARGE syndrome, life is stressful and stressful, so the family needs psychosocial help.
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