Abstract
INTRODUCTION: There are few reports on the experiences and perceptions of people living with the rare diseases of insulin resistance syndrome or lipodystrophy. This study was designed to identify treatment experiences and perceptions of disease-related burdens among affected people, as well as their needs and priorities. We discussed how to meet identified needs and expectations, in addition to the types of therapeutic drugs and support required. METHODS: Qualitative data regarding participants' experiences and perceptions of the diseases were collected through individual interviews, advisory board meetings, and individual follow-up activities. Verbatim transcripts from recorded participants' statements were qualitatively analysed. RESULTS: Four women aged 30-41 years participated in the study, two with insulin resistance syndrome and two with lipoatrophic diabetes. The diseases not only took a heavy physical toll on these women, but they and their families were also affected psychologically, with some experiencing stigmatisation. There was a lack of information for participants about their disease and little public awareness of the disease. The needs identified include initiatives to promote an accurate understanding of these diseases, information booklets, consultation service for those affected by the diseases, less burdensome treatment options, and opportunities for peer communication. CONCLUSION: People living with insulin resistance syndrome or lipoatrophic diabetes have significant physical/psychological burdens and unmet needs. The following are highly desirable to alleviate the burdens: promoting proper understanding of the diseases; establishing a framework for dissemination of disease and treatment information to those living with the diseases; development of therapeutic drugs for these diseases; educational materials that raise public awareness; and opportunities for peer communication. TRIAL REGISTRATION: UMIN Clinical Trials Registry (UMIN000043693). A Japanese translation is available for this article.