The Odds Are Fifty-Fifty: An Autoethnographic Account of Raising a Child with a Potential Adult-Onset Genetic Disease

Background: While knowledge is increasing about genetically inherited medical conditions, the personal accounts of parents faced with such unknowns for their child are rare. In this autoethnography, the author explores her years raising a daughter whose father was diagnosed with a previously unknown, incurable, autosomal dominant condition when the child was eleven. Because the condition is adult-onset, pediatricians and geneticists have long been advised to turn down parents’ requests to have a minor child tested. The decision to test or not to test remains with the child to decide after he or she is 18. Methods: The author explores her years of unknowing, her efforts to seek support, her mistakes in an extraordinary situation, and the perceived inattention of her daughter’s physician to the child’s mental health in the absence of testing. Results/Conclusions: This account adds to the knowledge about parents who must deal with the unknowns of raising a child with a fifty-fifty chance of having an incurable, genetically inherited adult-onset disease. With revolutionary advances in the field of genetics and the exponential growth of genetic testing, more patients—and parents—may seek out and benefit from the accounts of others dealing with what is sometimes a cloudy crystal ball. This autoethnography also adds to the understanding of physicians about the need for physician support and genetic counseling in such circumstances and augments the rare accounts of CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a little-known disease that affects only two to five of every 100,000 people.