Life with a rare chronic disease: the scleroderma experience

Little is known about the experience of living with a rare disease and how people with rare diseases cope with not only the disease but also the reactions of others. Scleroderma is a rare chronic connective tissue disease that results in fibrotic changes involving all or some organs of the body. The two types of scleroderma are systemic scleroderma, which involves the skin and internal organs and is the more serious type, and local scleroderma, which attacks the skin and surrounding tissues. Some people with scleroderma have signs that are visible to outsiders, while others have invisible signs. Having this chronic condition and being different from the general population may subject people with scleroderma to stigmatization by others.

The aim of this study was to understand, from the individual's perspective, the experience of living with scleroderma.

Focus group interviews were conducted with two groups of individuals with scleroderma. Because of the rarity of the disease and the illness of the participants, only two groups were held. The same questions were asked of both groups. A moderator and assistant guided the groups.

Data analysis revealed five themes: physical manifestations, disclosure/non-disclosure to others, living, being normal and facing the future. The data are discussed in light of participants' having visible signs, invisible signs and the rarity of their condition. For those with visible signs, disclosure was automatic. They were conscious of being different from others without scleroderma. Those with invisible signs managed their disease information in such a way as to minimize the stigma of being different. The rarity of the disease added the problem of others not understanding their difficulties. Those who disclosed their disease not only had to deal with the reactions of others, but faced the additional burden of having to explain their condition.

Nurses may have little knowledge about scleroderma. It is possible that they, through their ignorance of such rare conditions, may stigmatize individuals. Through understanding about rare diseases will they be able to teach patients the skills necessary to help them cope with their symptoms, as well as the reactions of others to their diagnosis and appearance.