22q11 deletion syndrome - the meaning of a diagnosis. A qualitative study on parental perspectives

Background The 22q11 deletion syndrome (22q11DS) is one of the most common multiple anomaly syndromes, with an incidence of approximately one per 4000 newborns. Although a patient may have several not too severe symptoms, the cumulative effect may be substantial disability. The aim of this study was to explore and describe parents' experiences of the diagnostic process and of being parents of a child with 22q11DS. Methods Open, tape-recorded interviews were carried out with 12 parents. The interviews were analysed in accordance with classical grounded theory. Results The analysis show that parents describe the disclosure of their child's medical diagnosis as two-sided, ambivalence between relief and sorrow, and the differences between these two aspects were related to the age of the child at time of diagnosis as well as to the problems and symptoms that had led to the diagnosis. Different strategies for handling this ambivalence are presented in the categories. Conclusions Our conclusions are that information must be individually tailored, and there is no standard format for how to describe the syndrome to the parents. After disclosure, scheduled appointments for follow-up on diagnosis-related information is essential.