Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child

• Published in: American journal of medical genetics. Part A Vol. 161A; no. 3; pp. 534 - 541
• Main Authors: Waxler, Jessica L., Cherniske, Elizabeth M., Dieter, Kristen, Herd, Pamela, Pober, Barbara R.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2013; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Birth; breaking bad news; Child; Child, Preschool; diagnostic process; Disabled Children; Expressed Emotion; Genetic Counseling; Health Care Surveys; Humans; Infant; Infant, Newborn; Middle Aged; parental recollections; Parents - psychology; Patient Preference; Perception; Professional-Patient Relations; Truth Disclosure; United States; Williams syndrome; Williams Syndrome - diagnosis; Williams-Beuren syndrome; Young Adult; United States
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35789

Healthcare providers often share difficult or life‐altering news with their patients yet this challenging and delicate process is frequently met with dissatisfaction by those receiving this news. Articles and guidelines exist to aid providers in sharing diagnoses such as Down syndrome, but relatively few have focused on rare genetic conditions often diagnosed years after birth. For this reason, we sought to learn about the experience of receiving a diagnosis from parents of children with Williams syndrome. We asked members of the Williams Syndrome Association to complete an anonymous online survey about recollections related to the diagnostic process. Responses, both close‐ended and open‐ended, were received from 600 families across the United States. Analysis revealed a high proportion of families (59.91%) with at least some negative recollections about the experience (and nearly half of those with negative recollections denied recalling anything positive). Factors influencing a more positive overall perception of the experience included receiving written information about Williams syndrome and seeing a genetic counselor. Analysis of open‐ended responses identified additional positive and negative themes; for example, nearly one quarter of respondents expressed a desire to be given hope when receiving the diagnosis. Based on these analyses, we offer several specific recommendations for improving the diagnostic process in the future. © 2013 Wiley Periodicals, Inc.