Dimensions of Personal Loss and Gain Associated with a Rare Genetic Type of Diabetes

Abstract

Diabetes is associated with experiences of loss. Since the introduction of genetic testing in maturity onset diabetes of the young (MODY), additional aspects of loss are emerging. This article describes the first U.K. MODY family identified with a mutation in hepatocyte nuclear factor-1 beta and the personal loss they experienced. Data are from in-depth interviews with the parents before and after a predictive genetic test in their son. Thematic analysis indicated multiple dimensions of loss: (1) loss of their first baby due to bilateral, nonfunctioning cystic kidneys, (2) loss of the “perfect” child when their son's renal cysts were detected, (3) loss of self following the diagnosis of diabetes and identification of renal cysts in the mother. Despite these experiences, the family gained from genetic testing as this provided a causal explanation of their renal disease and diabetes. Findings increase understanding of loss and responses to genetic testing in diabetes.