ABSTRACT
OBJECTIVE: The Norwegian Porphyria Centre routinely offers genetic counselling and predictive genetic testing in families diagnosed with porphyria. The aim of this study was to investigate the subjective experiences of adolescents and young adults who were genetically tested for acute intermittent porphyria (AIP) as minors. What were the psychosocial consequences and how were these handled? METHODS: Qualitative interviews of ten Norwegians aged 16-21 years were performed and analysed based on interpretive description. All participants were initially predictively tested for AIP as minors, but three had subsequently developed manifest disease. RESULTS: The participants considered early diagnosis and lifestyle moderation advantageous, but finding motivation for precaution was difficult. AIP inflicted few psychosocial challenges and was a small part of the participants' identity, but risk of manifest disease was, nevertheless, a cause for concern for two participants with latent AIP. The participants were content with their present level of knowledge and they felt capable of obtaining relevant information when needed. AIP was experienced as a vague condition, and participants and their relatives attributed a variety of symptoms to the disease. CONCLUSION AND IMPLICATIONS: Being genetically tested as a minor was experienced as useful and entailed relatively few adverse psychosocial consequences, although there was a potential for concern. Appropriate and individually tailored genetic counselling and written consent is subsequently advised. What constitutes a suitable age for testing will differ from individual to individual, but these results suggest that parents in collaboration with their children may be suited to decide what age is appropriate.
ABSTRACT
The number of long-term survivors after cancer is increasing, mainly as a consequence of more efficient treatment. This creates a need for knowledge about experiences of life after cancer. The aim of this study is to gain a deeper understanding of lived experience of long-term cancer survivors and how they experienced cancer care. A qualitative study was performed, based on 32 in-depth interviews with 16 women declared as long-term survivors, aged 39-66. The first interview was made 5 years after treatment and the second a year later. The study has a phenomenological-hermeneutical approach in which the women's own experiences are the basis for understanding their life-world. The long-term surviving women experienced profound changes in their lives and had to adapt to new ways of living. Three core themes were identified: living with tension between personal growth and fear of recurrence: the women spoke of a deep gratitude for being alive and of basic values that had become revitalized. They also lived with a preparedness for recurrence of cancer. Living in a changed female body: the removal of reproductive organs raised questions about sexual life and difficulties related to menopause. Feeling left alone - not receiving enough information and guidance after treatment: the process of sorting things out, handling anxiety, bodily changes and menopause were described as a lonesome journey, existentially and psycho-socially. The findings are discussed in relation to Heidegger's perspective of anxiety towards death, existential loneliness and humans as self-interpreting beings. Surviving cancer entails living with profound life-changes, demanding as well as enriching. Existing follow-up regimes need to sharpen focus on psycho-social aspects, information and guidance. Additional follow-up programmes, focusing solely on the individual woman and her specific needs, are necessary.