P 51 Methods of qualitative research in the analysis of development and care in children with rare diseases

Background Structured analysis of the natural history is missing for many rare diseases, e.g. for X-Linked Myotubular Myopathy (MTM) (OMIM # 310400) with an incidence of 2:100.000 male neonates. Most MTM patients die in early childhood, but some survive to school age. Due to the small number of patients quantitative analyses (classical statistics) are not feasible for rare diseases. Therefore, we applied qualitative methods to better understand disease-related needs. We developed a protocol for collection and analysis of data on development and care of patients with MTM covering general medical data, neurology, genetics, social factors, supportive treatment and education. Our study aims at analysing the clinical development of patients with MTM and the therapeutic approaches that are tried by families and professionals to promote the physical, motor and cognitive development of these boys. The objective is to better understand what their needs are and what support systems they require. Methods We use the descriptive and explorative methods of qualitative research. Structured, problem-centred interviews with families, teachers and physical therapists are conducted according to Witzel (2000). The interviews focus on the development of the children, the experiences with the disease and the possibilities of schooling. Data on medical history were collected using a modified version of the questionnaire from a study on infantile spinal muscular atrophy (SMA) from the Institutes of Human Genetics in Aachen and Cologne. The results of general health check-ups for children were included as well as the medical records. Content analysis according to Mayring is used for evaluation. Preliminary results We contacted 17 families of which 15 agreed to take part in the study. So far, we have performed 15 interviews with parents, 5 interviews with teachers and 5 interviews with physical therapists. We have reviewed the medical records of 15 patients. General health check-ups were recorded in 8 patients and a standardized physical examination was performed in 9. Preliminary results indicate complex health needs due to various co-morbidities that show the need of a multi-disciplinary approach when treating patients with MTM. They also show that the interviewed families share many experiences concerning challenges in everyday life, difficult medical situations and clinical development. Conclusion Our data show that the methods of qualitative research are a feasible approach for analyzing rare diseases. We suggest that the protocol can be adapted and applied to other rare diseases.