Have you heard the fun fact about how people with Huntington’s disease used to get accused of being witches? That’s probably not true.
I am an independent researcher studying the history of Huntington’s disease in Appalachia, and this journey has been just as much about unlearning as it has been about learning. My research began with genealogy, which requires rigorous ethical consideration. This rigor and the small geographic area where my research is centered have given me new perspectives on HD.
The Ethical Problem
Tracing Huntington’s disease by genealogy was one of the first actions taken by the eugenics movement when it solidified in 1910. Bad genealogy wrongly traced families with Huntington’s disease in America to people persecuted as witches in England - a stigmatizing myth that persists to this day.
Frequent Genealogical Errors
Between mistakes and hoaxes, the world of genealogy is notoriously fraught with inaccuracies. Susan Morris in Debrett Ancestry Research’s “Spotting Fake Genealogy” places genealogical errors into two categories:
The Accidental Ancestor
The Unscrupulous Genealogist
FamilySearch Wiki (“Fraudulent Genealogies”) has a list of known fraudulent genealogies demonstrating the frequency and reach of false genealogies.
The pervasiveness of bad genealogy can be demonstrated in the history of Huntington’s disease. In 1932, physician P.R. Vessie claimed that all people with Huntington’s disease could be traced to people tried as witches. By 1969, Vessie’s claim had been debunked as speculative and impossible to prove. Yet, the myth persists to this day. In eugenics-based Huntington’s genealogy, collateral relatives who were less successful, had criminal or psychiatric records, or were described as having ‘unfavorable characters’ were often assumed to have inherited the expanded gene.
Between stigmatizing folklore and stigmatizing methodology, the historical impacts of HD genealogy have been significant.
Genetic Anticipation and Historical Mortality
Genetic anticipation in HD is when the CAG repeat expands further in the next generation. This is most often seen when passed from the father.
HD is known to cause anticipation, a phenomenon in which subsequent generations show either a decreasing age of onset or an increasing severity of the disease. When the mutant gene is passed down through the father, anticipation occurs far more frequently (Sumaiya et al. 2025).
Inversely, the further back in time you go, the older symptom onset may be. Further, young deaths were more common in most of history than they are today. Diseases like tuberculosis, typhoid fever, and innumerable other risks could cause an early death in an adult (Willis n.d.). Thus, pre-1900, an ex post facto diagnosis of Huntington’s disease by genealogy and age of death alone is especially dubious.
In bad HD genealogy, the person in the ancestor couple who died first is presumed to have had the expanded gene unless proven otherwise. Yet, up to 30% of people who have HD have late onset and do not develop symptoms until age 60 or older. Very late-onset Huntington’s has been diagnosed in people who did not develop symptoms until 75 or later.
A 79‐year‐old man was first referred to our movement disorder unit for gait disorders, imbalance, and frequent falls lasting two years. He had no personal medical history and did not take any medication. Importantly, his older brother presented with mild chorea, had marked striatal atrophy on brain MRI, and was diagnosed with HD (40 ± 1 CAG repeats, with 17 repeats on the other allele) at the age of 81. The mother developed movement disorders at the age of 75 and died at 81 without genetic testing. No other of the eight siblings and their offspring had known neurological disorders. The patient had no children (Prange et al. 2023).
My Current Methodology
My methodology for researching Huntington’s disease in Appalachia starts with my DNA. My mom was diagnosed through modern testing. My maternal grandma also had Huntington’s. Through genetic genealogy, I traced the condition further back: my great-grandmother in Kentucky, and my 2× great-grandmother, who spent over ten years in a Kentucky state hospital before dying there. Her paternal grandfather (born in 1825), a son of a Kentucky county founder, had two wives, and both of those wives had children whose descendants have had modern testing confirm an expanded repeat.
Without confirmed diagnoses in descendants or a confirmed diagnosis in documentation, what is left is inference, which is not evidence.
These standards of proof are inherently limiting (the earliest a document confirming a diagnosis of Huntington’s in my research is one from 1910). These limits demand a rigor that counters the historical sloppiness of some previous similar efforts. When I can not confirm a descendant with modern testing, and I do not have a record of diagnosis, I do not allow myself to infer Huntington’s.
This also becomes an ethical conflict: my chosen rigor requires linkage to modern people.
Privacy for Living Descendants
For now, when names are provided, they will only be names that are acknowledged publicly on HDgenealogy.com or names far enough back in history as to have no modern connection to descendants. I will be speaking with people who have navigated similar ethical conflicts to discuss how to handle more recent history, but until then this will be my process.
With Rigor Comes Perspective
This lack of inference with a narrow geography in rural Kentucky has allowed me to analyze Huntington’s disease not as a unique horror but instead as a part of the kaleidoscope of human experience. I have reviewed the records of people within the family I am studying who died in asylums, along with the records of the rest of the patients. I found that many people for whom there is no reasonable suspicion of HD experienced many of the same difficulties and their families experienced the same struggles. It is also true that people with HD and in HD families have made significant positive contributions to society and their communities even with shortened lives or shortened “good years”.
Challenging Popular Narratives
In the shadows of eugenics and stigma HD families have been viewed as contemptible people who do not contribute positively to society. In my research into Huntington’s disease in Kentucky I have found a vastness of experience. Many members of these families were judges, doctors, politicians. Highly respected people whose character was publicly well regarded and who were able to marry socially attractive partners. I find these families in histories that Kentuckians view as notable, the good and the bad. My findings appear to align with the work of Alice Wexler the preeminent HD historian who wrote the first history of HD in America, The Woman Who Walked into the Sea.
The dominant historical narrative of Huntington’s disease (Huntington’s chorea) has portrayed the early American sufferers from this disorder as marginalized and vilified. This article argues, however, that afflicted families in East Hampton, New York--the site of George Huntington’s mid-nineteenth-century observations--were mostly accepted and integrated within the community, some of them as members of the gentry and active participants in local governance (Wexler, 2002).
Documentation Bias
Some of the most controversial behavior and dramatic symptoms that can occur in severe HD are also more likely to lead to documentation. In families of status and wealth, there would be little need for stipends. Families who could afford to would often keep their relative at home as long as possible. Documentation such as police reports, court records, divorce records, newspaper reporting, and asylum records can be the result of severe Huntington’s disease symptoms. The lack of such documents does not prove a lack of HD. The presence of these documents does not justify an ex post facto diagnosis of HD.
In Conclusion and Next Steps
There are serious ethical and methodological errors in the history of HD genealogy, and I am taking responsibility as a researcher to address those harms and to not reenact them. I have identified many common errors in both typical and HD genealogy. By choosing to refuse inference, I’ve found HD to be one of many threads in the tapestry of human experience of Appalachia.
If you are looking to support this work check out my donation fund or hire me for genealogy work!
Sources
Wexler, Alice. 2010. “Stigma, History, and Huntington’s Disease.” The Lancet 376, no. 9734 (July 3): 18‑19. https://doi.org/10.1016/S0140-6736(10)60915-1
“The Dark History of Eugenics,” Davidson College, Department of Biology, https://www.bio.davidson.edu/COurses/genomics/readings/dark.pdf.
FamilySearch. “Fraudulent Genealogies.” FamilySearch Wiki. December 8, 2022. https://www.familysearch.org/en/wiki/Fraudulent_Genealogies
Morris, Susan. “Spotting Fake Genealogy.” Debrett Ancestry Research, January 5, 2018. https://debrettancestryresearch.co.uk/fake-genealogy/
“On the Transmission of Huntington’s Chorea for 300 Years—The Bures Family Group.” Annals of Internal Medicine 6, no. 6 (December 1, 1932): 843. https://doi.org/10.7326/0003-4819-6-6-843_2
Hans, M. B., & Gilmore, T. H. (1969). Huntington’s chorea and genealogical credibility. Journal of Nervous and Mental Disease, 148(1), 5–13. https://doi.org/10.1097/00005053-196901000-00002
Sumaiya, Towhida, Rezvey Sultana, and Mofazzal Hossain Mridul. 2025. “Presentation Modes, Anticipation, and Penetrance: A Case Series of Huntington’s Disease.” Cureus 17 (10): e94101. https://doi.org/10.7759/cureus.94101
Stoker, Thomas B., Sarah L. Mason, Julia C. Greenland, Simon T. Holden, Helen Santini, and Roger A. Barker. 2022. “Huntington’s Disease: Diagnosis and Management.” Practical Neurology 22 (1): 32‑41. https://doi.org/10.1136/practneurol‑2021‑003074
Stéphane Prange, Chloé Laurencin, Pauline Roche, Isabelle Quadrio, and Stéphane Thobois. “PSP‑Richardson’s Syndrome as a Rare Phenotypic Expression of Very Late‑Onset Huntington’s Disease: A Case Report.” Movement Disorders Clinical Practice, Letters: Genotype and Phenotype, published December 21, 2023. https://doi.org/10.1002/mdc3.13943
Willis, Landon. n.d. “Learn the Common Death Causes of the 1800s.” Kentucky Genealogical Society. https://kygs.org/death-causes-explained-1800-mortality
Wexler, A. R. (2002). Chorea and community in a nineteenth-century town. Bulletin of the History of Medicine, 76(3), 495–527. https://www.jstor.org/stable/44447822
Thanks for reading Ex Post Facto - The History of Huntington’s in Appalachia ! Subscribe for free to receive new posts and support my work.