Background: Cystinosis is an autosomal recessive disorder with an estimated incidence of 1/100,000-200,000 live births. The main complications are renal disease, visual impairment, endocrine abnormalities and growth retardation. Objective: Our aim was to describe the mood and illness experiences of adults with cystinosis. Methods: Twenty-three patients attending the adult cystinosis clinic at Guys Hospital, London were asked to complete the Hospital Anxiety and Depression Scale (HADS) questionnaire anonymously. Eighteen months later, 21 patients who were still alive were invited to participate in a semi-structured interview aimed at exploring illness experience. Results: Eighteen patients completed the HADS questionnaire (means: depression = 7.2; anxiety = 9.2), and 12 participated in the interviews. Three significant themes emerged: (i) the main physical complaints were tiredness, the impact of short stature and side effects of cysteamine medication, especially halitosis, poor taste and nausea. (ii) Cystinosis has a major impact on relationships, autonomy and social life, including reliance on families for support to self-manage, distress at dependence, social anxiety, reduced social involvement and some positive effects on family cohesiveness. (iii) Patients use a range of individual coping strategies to deal with their illness and medication. Conclusions: Adult cystinosis patients reported comparatively high-anxiety and depression scores. Common complaints related to the complications of cystinosis and the side-effects of cysteamine, which impacted on relationships, autonomy and social life. Patients described a wide range of strategies, including benefit finding, for coping with cystinosis.
- quality of life