Living and ageing with spinal muscular atrophy type 2: observations among an unexplored patient population.

OBJECTIVE

To study conditions of living, participation and diagnostic perceptions in a national population of adult persons with spinal muscular atrophy type 2 (SMA 2).

METHODS

A mixed method design combining cross-sectional survey data with personal narratives was chosen. Twenty-nine of 37 patients with SMA 2 aged >or=18 years participated in a semi-structured questionnaire survey and three were selected for in-depth journalistic interviews. Socioeconomic data, activities and personal significance of problems were calculated. Journalistic stories were analysed for constructs of personal diagnostic qualities.

RESULTS

Everyone was actively directing their life despite being heavily dependent. Deterioration of physical abilities was a major concern for women. Seventy-six per cent were single, but stated their quality of life as fine. Narratives of living with SMA 2 were associated with positive characteristics, as opposed to the medical diagnostic wording.

CONCLUSION

Female coping needs more research. Narrative method complements medical knowledge.