Parents' responses to their child's diagnosis of neurofibromatosis 1

Eighteen unaffected families with an affected child were interviewed in their homes to chronicle the experiences of parents in receiving their child's diagnosis of neurofibromatosis (NF) 1. Families were recruited through NF support groups and the Genetics Departments of two metropolitan hospitals in Northern California. Characteristics of disclosures were often at variance with suggestions made in recent years for the giving of "bad news." Disclosures typically were made "helter-skelter" during regular examinations. Parents in 16 of the families described shock, upset, and subsequent depression as their responses to the diagnosis. The overriding issues, which dominated in the disclosure, were the uncertainty of the condition, the possibility of many diverse symptoms, and its historic misdiagnosis as "The Elephant Man's Disease." However, physicians' attention to the setting and style of disclosure, imparting appropriate and positive information, allowance of additional time for careful explanation, and rescheduling a follow-up appointment, may be able to more effectively assist parents in receiving and more positively adapting to their child's diagnosis.