Supporting families of children with rare and unique chromosome disorders

Abstract

ABSTRACTThe aim of this research was to investigate the experiences of families whose child was diagnosed with a rare, and apparently unique, chromosome disorder. The participants were 22 parents who had been told that their child was the only one in the world with a specific chromosome abnormality. The parents completed an online questionnaire about the information and support they had accessed following diagnosis, and the difficulties associated with their child's unique disorder. There were 24 affected children, aged 1 to 17 years, and 1 young adult in the participating families. Most experienced significant delays with cognitive, language, and motor development. Problems with general health and behaviour were also common. Parents reported that they received the most useful information from support groups. The most important sources of support were allied health professionals, support groups, and other parents. The parents described the ways in which they had been affected by the lack of knowledge about their child's specific disorder. Common themes included uncertainty and confusion, feelings of isolation, fears for the future, mental health issues, and frustration because the chromosome disorder had no associated syndrome name.