Living with a progressive neuromuscular disease: A grounded theory study of family experiences
V. Waldboth1, P. Kane2, R. Mahrer-Imhof1, A. Metcalfe3 (1Winterthur ; 2London GB; 3Sheffield GB)
Muscular dystrophies are the most prevalent group of childhood neuromuscular diseases (NMDs). They are characterised by a genetic defect responsible for loss of muscle protein expression causing progressive wasting and fibrosis of the muscles. Considering the physiological effects, the health situation of affected young people is serious and the repercussions for their families are enormous. To date there is still no primary treatment and the life of individuals is limited to an early age.
To gain a better understanding of the experiences of affected individuals and their relatives, this study explored the affected young person’s transition into adulthood when living with a progressive NMD by applying a family systems approach.
The study design was a constructivist approach to Grounded Theory. Interviews were conducted with affected young people, parents and next of kin in Switzerland. Data were analysed simultaneously with data collection applying principles of Grounded Theory: coding, memo writing, theoretical sampling and constant comparison techniques.
Interviews with 31 members of 12 families comprised 10 affected young people, 13 parents, seven siblings and a partner. Findings describe the transition into adulthood as a time marked by the affected young person’s continuing loss of muscular strength and physical abilities leading to growing physical dependence. This situation required the young person and their family to make significant adjustments in their life expectations and in how they were functioning as a family to manage everyday life while coping with a progressive disease and allowing personal growth. The life stage was characterised by the families’ grief for the losses they had experienced and expected to experience in the future. Affected young people had to learn to deal with their own finiteness at a young age, also by witnessing the death of an affected sibling or friend. These situations were not only difficult for them, but also for other family members as it reminded them about the potential rapid change of the young person’s health situation.
Living with a progressive disease and being confronted with finiteness of life was described as major difficulty by families, a fact that needs to be considered by health services. Families facing emotional difficulties would benefit from a family centred approach to care, including a family centred approach to researching their needs.