Parents’ experience of the care of their child with severe spinal muscular atrophy (SMA)

Spinal muscle atrophy, SMA, is an inherited muscle disease. The most severe form, type 1, gives symptoms during the first year of life and the child usually dies within 2 years without treatment. In SMA type 2 children begin to develop symptoms between the age of 6-18 months and these usually lead to a shortened life expectancy. There is no cure for any form of SMA, although new drugs are showing promising results. Treatment, therefore, focuses primarily on preventing complications of the muscle weakness and maintaining quality of life. This is achieved mainly through respiratory support and nutritional support.

Parents of these children are often faced with difficult ethical decisions regarding their child’s care and treatment. Sweden lacks national guidelines for the care of these children, which may lead to information about the diagnosis and treatment options varying throughout the country.

The overall aim of the project is to explore how parents of children with the most severe forms of SMA (types 1-2) experience the care. The project consists of two national questionnaire studies based on the responses from parents of children with SMA type 1 or type 2 born between the years 2000 and 2010 in Sweden and 2003-2013 in Denmark, respectively. Of 113 parents who were contacted, 95 participated (response rate 84%). The questionnaires address the parents’ experiences regarding information, diagnosis, treatment and care of the children and the family, how they were treated by the healthcare staff, and the parents’ participation in the care and the decisions made. The data collection has been completed and the analysis and preparation of an article are currently ongoing.