Tonder S.L1, Raaheim M2, Skadberg O1, Sandberg S1
1The Norwegian Porphyria Centre, Laboratory of Clinical Biochemistry, Haukeland University Hospital, 2Section for Physiotherapy Science, Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway
In Norway genetic counselling is mandatory before testing patients without symptoms and with a genetic risk of acute intermittent porphyria. The present study deals with how individuals with a positive test result handle their situation. The study comprised 11 individuals: 7 women and 4 men who had a genetic mutation of AIP. Some of them described symptoms related to AIP, others had no symptoms. They described themselves as healthy. The age of the participants varied from 20 to 60 years. A qualitative interview were performed. Their experiences were qualitatively analysed to identify central themes. The study indicates that the participants, knowing they have a genetic risk for AIP, live with uncertainty whether if-or when-they will get symptoms of AIP, how they can manage the symptoms and if their children will get the disease. Support from the professional health staff with information that enables them to interpret their own experiences and reactions in a situation of uncertainty are more important for them than basic medical knowledge. In spite of uncertainty; they are satisfied with the information especially because they now know that treatment can be given if they get an attack. In conclusion, the study may contribute to a better understanding of the complexity that follow genetic counselling and testing and how individuals react on knowing their possibility for getting the disease.