title: Exploring the genetic counselor's role in facilitating meaning-making: rare disease diagnoses.
abstract: The main goal of the constructivist meaning-making framework is to encourage grief adaptation through the search for meaning in loss. Strategies to help patients construct meaning from their experiences may lead to positive adaptation. This strategy has been used in contemporary grief counseling, but it may also be beneficial in the genetic counseling scenario. The diagnosis of a rare genetic disorder often has considerable psychosocial impact as patients and families describe feelings of isolation and hopelessness. Negative experiences with healthcare providers often reinforce these feelings. Genetic counselors continue to provide education and psychosocial support to patients and families with rare genetic disorders, and meaning-making strategies may provide a framework for which to help patients and families adapt to these challenging diagnoses. In this paper I explore the background of meaning-making counseling strategy and describe an experience in which it was used for counseling a family with a child with Mowat-Wilson syndrome. I show how a meaning-making framework can help families explore and construct meaning from their experiences and encourage positive adaptation. I also address the possible limitations of this strategy and the need to share additional experiences with this counseling framework. Meaning-making can be another tool for genetic counselors to help guide families in their grief and adaptation to rare disease diagnoses. I also describe qualities and aspects of counseling through the lens of meaning-making and stress the importance of addressing psychosocial dimensions of rare disease diagnoses.
authors.affiliation: Department of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters/Eastern Virginia Medical School, 601 Children's Lane, 2nd Floor Pediatrics, Norfolk, VA, 23507, USA, Benjamin.Helm@chkd.org.
authors.forename: Benjamin M
authors.initials: BM
authors.lastname: Helm
mesh_terms: D000223:Adaptation, Psychological; D019066:Facies; D005190:Family / Q000523:psychology; D005817:Genetic Counseling / Q000379:methods*; D006117:Grief; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D065026:Hope; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D007802:Language; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D010361:Patients / Q000523:psychology; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D012934:Social Isolation / Q000523:psychology; D000078329:Workforce