SO RARE, WHO CARES? A STUDY ON STRESS AND DIFFICULTIES ENCOUNTERED BY THE PARENTS OF CHILDREN WITH A RARE DISEASE IN HONG KONG

Abstract

Rare diseases are a group of chronic and complex genetic disorders characterized by low prevalence rate. About half of new cases present at birth and affect children with severe disabilities. There has been scant research studying the stress and problems of the parents of children with a rare disease. In Hong Kong, the government has no established policy for rare disease management. The special needs of people with a rare disease are undermined in the current healthcare and social welfare systems. A descriptive qualitative research approach was conducted to investigate the experience of the parents. Sixteen parents were recruited, and in-depth semi-structured interviews were conducted. Thematic analysis was performed with the Supportive Care Need Framework. Major stress encountered by the families was identified, i.e., delay in diagnosis, lack of professional support, financial stress of paying for expensive drugs, and medical expenses. Also, family relationship problems, psychological impact, depression, and suicidal thoughts were pervasive among the parents. This study demonstrates that rare diseases bring enormous stress to families. Early intervention of healthcare professional and social workers is essential in empowering these families. The Hong Kong SAR government has the responsibility to take an active stance: to establish a clear definition of rare diseases and establish a policy in rare disease management.