Determination of the challenges of care, treatment, and nutrition of family with children who diagnosis with phenylketonuria

Phenylketonuria which autosomal recessive, is chronic disease that occurs of due to the deficiency of phenylalanine hydroxylase enzyme activity. Phenylketonuria is one of the most prevalent genetic disease in Turkey. Children Who Diagnosis Phenylketonuria and families affect the quality of life on various challenges account of phenylketonuria. The purpose of this study is to determination of the challenges of care, treatment, and nutrition of family with children who diagnosis with phenylketonuria. The study, which is cross-sectional and descriptive, was conducted at Ege University Medical Faculty Hospital Child Nutrition and Metabolic Diseases Polyclinic. The population of the study includes the family with children who diagnosis with phenylketonuria the age of between 1 and 10 years at Ege University Medical Faculty Hospital Child Nutrition and Metabolic Diseases Polyclinic. The population consists of 60 family with children who diagnosis with phenylketonuria the age of between 1 and 10 years who applied to the at polyclinic in between July - September 2017 and agreed to participate in the survey. The data were collected via 'Determination Of The Challenges Of Care, Treatment, And Nutrition Of Family With Children Who Diagnosis With Phenylketonuria' prepared by the researcher. The questions on the survey were collected by face-to-face interview after the verbal and written approvals of the parents were taken. Data were evaluated by descriptive statistics and chi-square test in the SPSS 21.0 program. According to the findings obtained from the research; 51.7% of the parents are fathers and 48.3% of the parents are mothers. It was determined that 95% of the families had challenges of care of their children who diagnosis with phenylketonuria and 96.7% had challenges of treatment of children who diagnosis with phenylketonuria. The families mostly were found to have challenges of care and treatment due to financial insufficiency. It has been determined that family of children who diagnosis with phenylketonuria with dieting treatment have challenges of reaching the products related to the nutrition of their children. Statistically significant difference was not determined between age of parents, working status of the parents, educational status of fathers, total number of the children in the family, age groups of children who diagnosis with phenylketonuria, status of other children who diagnosis with phenylketonuria in the family and status of challenges of care, treatment, adapting to diet (p > 0.05). Significant difference was determined between educational status of mothers, economic status of families, form of the getting treatment of children and status of challenges of adapting to diet (p < 0.05). Nurses at the center of the healthcare team should cooperate with other occupational groups to provide family-centered care to the families with children who diagnosis with phenylketonuria who are experiencing challenges of care, treatment and nutrition. Key Words: Phenylketonuria, Child, Family, Care, Treatment, Nutrition, Challenges