Convivendo com a fenilcetonúria: a percepção materna e da equipe multiprofissional

Abstract

Phenylketonuria (PKU) is a genetic disorder, autosomal recessive, caused by absence or deficiency of the hepatic enzyme phenylalanine hydroxylase, it increases levels of blood phenylalanine, causing toxic effects on the central nervous system. Persistent elevations of blood concentrations of phe and its acidic metabolites cause neurologic injury manifested, in its most severe form, by irreversible mental retardation. The newborn screening carried out the third to fifth day of life, allows the early diagnosis and the treatment to avoid the symptoms. The treatment consists in a restricted protein diet associated a protein substitute, free phe, which should be kept for a lifetime. Thus, from the diagnostic, all family activities are centered on the existence of the disease that demands, besides the diet, continuous blood dosages and frequent displacements of the patients and their relatives from municipality of origin for searches in the Reference Service. At the same time, since it is a chronic disease which demands the compliance to such special diet, the treatment of these patients is still a challenge to the health care team. Objectives: To understand the maternal perception about the repercussions of the PKU in the family dynamic and the perception of the multidisciplinary team on the care and treatment of the disease. Methods: This is a qualitative study conducted in two stages. At first, maternal perception was investigated by means of semi-structured interviews with mothers of affected children from two to six years old. In the second, the Focus Group was elected to comprehend the perception of the multidisciplinary team concerning the caretaking and treatment of PKU. Data were analyzed using the method Content Analysis. Results: Fourteen mothers of children with PKU were interviewed and three thematic categories were identified: Revelation of diagnosis; Learning to cope with the disease; Implications of the chronic disease in the family and social circle. In the start of the treatment, the mothers experienced feelings described to an adaptation process to a serious chronic disease. The frequent displacements to the Reference Service potentiate the difficulties reveled by the mothers, changing significantly the family structure. The adherence to the diet is a crucial point of the treatment and its maintenance becomes more difficulty with the aging. The entrance in the school is another moment of tension for the mothers who fear the diet transgressions and social exclusion. In the second stage of this study, eight professionals participated in the Focus Group, and the analysis of their discussion allowed the identification of the following thematic categories: the start of the treatment; the performance of the multiprofessional team; the experienced difficulties. The discussion revealed the importance of the multidisciplinary work and the feeling of impotence of the professionals, especially when the expected compliance to the treatment. The adolescence and the maternal PKU are constant concerns, which demand additional efforts to the treatment monitoring. Conclusion: The treatment of PKU is complex, influenced by many aspects, producing significant changes in the family dynamic. It represents a challenge to the professionals, since its biological knowledge is not enough to its coping. The dialogue between the two stages of the research emphasized the difficulties of the treatment, not only regarding the restrictive diet, but also regarding emotional, social, economic and cultural aspects. This study provided subsides to improve the comprehension about living with the disease in the family dynamic, and contributed to more humanized and integrated approach in the treatment of the PKU.