JIMD Reports - Case and Research Reports, 2012/3

Greet Noorda, Theo van Achterberg, Truus van der Hooft, Jan Smeitink, Lisette Schoonhoven, Baziel van Engelen, Noorda, Greet, van Achterberg, Theo, van der Hooft, Truus, Smeitink, Jan, Schoonhoven, Lisette, van Engelen, Baziel

Objective: This study aimed to identify problems as experienced by adults with a mitochondrial disease. We chose to describe these problems from the patients' perspective as we thought this would give optimal input for care improvement. Design: A qualitative design using the grounded theory approach, involving single individual open interviews with 16 adults with a mitochondrial disease. Results: This study revealed "loss" as the main concept, where one loss often preceded other losses. Respondents mentioned loss of energy as the most basic loss in having a mitochondrial disease, leading to multiple varied losses in all areas of daily life. Looking back, they mentioned psychosocial-spiritual problems and dealing with actual and expected future losses as most prominent and difficult. In our study, we determined seven comprehensive themes: "loss of energy", "loss of independence and autonomy", "loss of social participation", "loss of personal identity", "loss of dreams and future" as well as "lack of health care" and "coping and adjustment". Conclusions: In this first study on this theme, we developed a theory about patient's losses related to mitochondrial disease. They experience a variety of problems in the physical, psychological, social and spiritual human domain. Patients experience a lack of health care and professional support as well. They use various strategies to manage their multiple losses and experience circumstances in which it is difficult to manage them effectively. The results can be used as a guide for improving health care, education and research and might result in an improved quality of life.