As genetic counselors, we are all too familiar with how to communicate a genetic diagnosis. This often includes discussing ways the patient might disclose their diagnosis to loved ones. We consider how they might communicate this information with their romantic partner, parents, children, or other at-risk relatives. However, we may be less familiar with helping parents communicate a genetic diagnosis with an unaffected sibling. Although this can be a difficult conversation to navigate, it is an important one, and may be especially so for the unaffected siblings of individuals with significant physical, emotional, or educational needs.
In this featured article, Abigail Turnwald, MS, CGC and her research committee consider how a diagnosis of Angelman syndrome (AS), a rare neurodevelopmental condition, is communicated by parents to unaffected siblings. This research focused on the importance of starting a dialogue, current communication practices used by parents, and how to develop a plan for future conversations. The results highlighted some of the misconceptions and unanswered questions unaffected siblings had about their sibling with AS, as well as the need for additional resources. The majority of parents stated that they would appreciate additional resources such as videos, websites, and children’s books in order to facilitate these conversations as well as validate the siblings' emotional experiences. One parent stated, “I wish there were resources that provided factual explanations about AS without any explicit or implied messages of pity, fear or sadness for individuals with disabilities.”
In this study, Turnwald additionally analyzed unaffected siblings’ perceptions of their siblings with AS. Unaffected siblings were provided the prompt: “Tell us about your sibling with AS.” While some siblings certainly discussed the challenges of having a sibling with AS, 54% solely reported positive characteristics and an additional 34% described both positive and negative traits. There were universal themes among the responses, but many unaffected siblings mentioned the happy demeanor of their sibling with AS, one of them stated, “she is always happy; it makes me happy to see her smile.” Turnwald hopes that this research will encourage fellow genetic counselors to start (or continue) asking about siblings during genetic counseling sessions to correct misconceptions, provide resources, and empower families.
Turnwald’s research on communication practices of parents and unaffected siblings was conducted as a part of her master’s thesis project at the University of Colorado Anschutz. Her research goals were (and still are) to focus on individuals and families affected by rare diseases. Once she developed her idea for sibling research, she recruited mentors for her research committee that were just as inspired and excited as she was.
Turnwald continues to work with children and families as a certified pediatric genetic counselor at Dayton Children’s Hospital. Although research is not currently a part of her role, she continues to pursue research endeavors in her spare time. Her team is using their qualitative data to create a series of children’s books focused on the different aspects of AS to help address the unanswered questions of their unaffected siblings. The first book in the series titled: Sibling Stories: Getting to Know You, is already available. Turnwald and her team hope to continue creating sibling resources in the future.
Turnwald’s advice for genetic counselors and students interested in pursuing research: collaboration is key! She recommends that anyone with a particular research interest seek out individuals already within that space and make connections. She also emphasizes being aware of who we are including in our research, stating, “listen to those that will be impacted by your research. If your research is tailored to families, include families in your project development, listen to families’ stories and ensure your research meets their needs.”
Publication
Turnwald A, Thompson T, Nori K, Duis J. Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome. Am J Med Genet A. 2022 Jul;188(7):2110-2118. doi: 10.1002/ajmg.a.62751. Epub 2022 Apr 1. PMID: 35362196.
Alaina Heinen, MS, LCGC graduated from the University of California-Irvine Genetic Counseling program in 2021. She works as a clinical genomics analyst at Rady Children’s Institute for Genomic Medicine in San Diego, CA. She is also a part of the SCGC marketing committee.