The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.

BACKGROUND: To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim of this study was to examine how French people with albinism and their parents live with and adapt to this condition in all the areas of their lives. METHODS: Semi-structured phone interviews were conducted with 9 parent-child dyads, each participating separately. Participants were recruited by convenience sampling, thanks to the combined efforts of a patient association (Genespoir) and professionals from the partner medical referral centers involved in the project. Dyads in which the individual with albinism had any comorbidity were excluded. The interviews were then transcribed and subjected to in-depth thematic analysis. Two codebooks were constructed in a mirrored process: one for people with albinism; the other for their parents. They were finally merged at the end of the coding step. RESULTS: Four main categories were identified: personal perceptions and social representations of albinism, difficulties and obstacles encountered by people with albinism, resources and facilitators, and the importance of parent-child functioning. The results indicated that experiences of stigmatization during childhood and adolescence are common and that people with albinism face challenges in adapting to certain obstacles related to their visual impairments (VI) (e.g., inability to drive a car; eye strain...). Parents emerged as one, if not as the main, source of support for people with albinism throughout their development. Although external support systems exist to assist them in various aspects of their lives, some of them primarily rely on their own personal resources to cope. CONCLUSIONS: This research highlights the importance of a systemic and transdisciplinary approach to make sure families receive the support that best meets their needs.

Facilitators of and obstacles to consultation in patients with advanced basal cell carcinoma: a French pilot study.

Basal cell carcinoma is the most common skin cancer for which surgery is usually the unique and definitive treatment. Advanced basal cell carcinoma is not eligible to surgery when underlying structures are destroyed. Delayed consultation is the principal cause of advanced basal cell carcinoma. It is questionable why some patients seek care only when the tumour is advanced. The objective of this study was to identify the psychosocial factors involved in delayed consultation. We used a qualitative approach, conducting semi-structured interviews with advanced basal cell carcinoma patients and the healthcare staff of a dermatology unit to explore why some patients consult only when basal cell carcinoma is advanced. We then put our findings into perspective and created a logical model for change. We interviewed 14 patients and 12 healthcare staff. The first lesion was associated with banalization. Then, denial and fear of diagnosis or treatment were post common. Finally, the advanced basal cell carcinoma's symptoms, along with social pressure, created the intention to seek medical help and improved disease awareness. We developed a logical model that summarizes these findings. In this pilot study, we modelled factors that delayed consultation. This will aid future research and targeted interventions reducing delay, in particular by improving knowledge and by using social pressure as facilitators. Trial registration: NCT04124796.