In a new study, HD family members discuss how they learned about Huntington's Disease.
The author identified four paths: something is wrong, out of the blue, knowing but dismissing, and growing up with HD.
In the category of 'something is wrong', a family member presented with symptoms in the absence of a family history of Huntington's Disease. There were often misdiagnoses until symptoms became more pronounced or a doctor with HD experience recognized the disorder. Awareness about the disease and one's own risk came gradually.
In the category of 'out of the blue', there was no known history of HD and an affected family member was seeking diagnosis but he or she was socially or geographically separated so when the information was passed on to relatives, this knowledge came abruptly.
In the category of 'knowing but dismissing', there was a known family history of HD but affected family members who geographically or socially separated and the interviewee's own parent was healthy. Full awareness of the disease usually came when an immediate family member began to show symptoms.
In the category of 'growing up with HD', the interviewees grew up with an affected parent. Knowledge of the disease and it's implications increased over time.
This type of research has limitations. It's not generalizable in the way it would be if there was a random sample of a group of HD family members in a region, for example. It doesn't characterize the full range of experiences. Still, there are many HD family members who will recognize their own experiences and emotions in these accounts. More research like this needs to be done -- independent researchers talking with HD families. Too much of what is known about HD families comes from researchers who were also functioning as gatekeepers to the predictive test. Although they are certainly concerned with preparing and supporting individuals to deal with the impact of testing, I doubt they can have a full understanding of what it means for someone to be part of an HD family, make the decision to learn one's gene status, and then have to prove one's fitness to get this information to strangers.
The article can be found here:
Holly Etchegary, Ph.D.
A considerable body of research has explored both predictive genetic test decisions for Huntington disease (HD) and the impact of receiving a test result. Extant research reveals little, however, about how and when at risk persons first discover their family history of HD. Drawing upon 24 semi-structured interviews with at risk persons and their family members, this study explored initial discovery of HD in the family. Qualitative data analysis revealed four different, though sometimes related, trajectories of discovery: (1) something is wrong, (2) out of the blue, (3) knowing, but dismissing, and 4) growing up with HD. These pathways highlighted the importance of the temporal and historical contexts in which genetic risk for HD was discovered. Notably, ignorance about HD was the most salient feature shaping participants' narratives of discovery. Implications for research and clinical practice are discussed.