Abstract:Cystic fibrosis is one of the most common life limiting autosomal recessive genetically inherited conditions affecting Caucasians. It is caused by mutations of chromosome 7 responsible for encoding amino acid protein 1480, the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common mutation, affecting 75% of patients with CF in the UK, is that of delta F508 which results in the omission of phenylalanine at position 508 in the 1480 chain. However, other rarer mutations exist resulting in differing presentations of the condition. Ellen, a teenager with a rarer presentation of CF, and her family, are drawn upon in this case study to discuss living with CF and its impact upon quality of life and well-being in life limiting conditions of childhood.