In 1806 Phebe Hedges of East Hampton, Long Island, walked into the Atlantic Ocean and drowned. The Suffolk Gazette reported: “There is every reason to believe that she has precipitated herself into the surf which washes the South shore. Mrs. Hedges was about 40 years of age and was much esteemed by her neighbors. This extraordinary step is attributed to her extreme dread of the disorder St. Vitus’s dance with which she began to be affected and which her mother now has to a great degree. From some arrangements of her clothing it appears she had for some time contemplated her melancholy end.”

Her condition was also called “Magrums” and became well known to the local Huntington family, which provided three generations of physicians to East Hampton. The interactions of these two families over the ensuing decades culminated in the published description of the disease by George Huntington in 1872 (at age 22 and one year out of medical school). The “Magrums” had become Huntington’s chorea.

In The Woman Who Walked Into the Sea: Huntington’s and the Making of a Genetic Disease, Alice Wexler weaves the stories of these two families and their community into a fascinating document that carries Huntington’s chorea through the 19th and into the 20th century where it became Huntington disease (HD).

Although the medical facts are accurate, this is a book written primarily from the perspective of a historian and social anthropologist. The disease had been described before Huntington, but Wexler explains how his description became preeminent. First, it was well written, concise, and accurate. More importantly, it became an “American disease” and helped young, energetic neurologists in the United States distinguish and separate themselves from the older schools of Europe.

Finally, unknown to even himself, George Huntington had succinctly and beautifully described autosomal dominant inheritance. He carefully noted that the disease was passed from generation to generation, but disappeared in those branches of the family having older adults unaffected with the condition. In the early 20th century William Bateson in England promoted this disease as a rare but perfect example of Mendelian inheritance in humans. Huntington’s chorea emerged at the forefront of human genetics where the ideas of Darwin and Mendel were being applied to human conditions.

Unfortunately, HD became entangled in the Eugenics movement of the early 20th century. Wexler focuses on the Cold Springs Harbor Eugenics Records Office of Charles Davenport, ironically established at the other end of Long Island from East Hampton. This saga includes the intriguing story of Elizabeth Muncey, a graduate of Howard Medical School, who was assigned by Davenport to interview all families with chorea in the Northeast. Muncey’s work was highly informative, even poignant, but flawed by haste, hearsay, gossip, and a poor understanding of the disease and epidemiological methods.

Davenport was a leading proponent of removing the “unfit” from society. His work dragged the disease into the shadows of “social undesirability” that included epilepsy, mental retardation, insanity, alcoholism, and criminality. This tainting of the disease continued into the 1940s and 1950s, even after the closure of the Cold Spring Harbor Eugenics Records Office.

Neurologists will be particularly interested in the efforts of a Connecticut psychiatrist, Percy Vessie, and two neurologists, Smith Ely Jelliffe and McDonald Critchley, to claim that most, if not all, of the families with Huntington’s chorea came from three brothers who emigrated from England to America in the early colonial period and whose descendants were persecuted for witchcraft. This story was eventually shown to be completely false, but added to the stigma of the disease. It is certainly a cautionary tale for neurologists trying to explain diseases to the public and grasping for colorful or dramatic stories.

In the 1970s Marjorie Guthrie of the Committee to Combat Huntington’s Disease
and Nancy Wexler of the Hereditary Disease Foundation, both of whom had
HD in their families — the former by marriage to Woody Guthrie, the latter a
sister of the author — combined with the NIH to produce a national review of this
important disease. This review took the form of a published report based on public meetings held throughout the country seeking input about the disease from families, physicians, scientists, and healthcare providers. The resulting report was instrumental in helping to remove the stigma from the disease, highlighting the plight of the families and emphasizing the need for biomedical research into its cause and treatment. That research, of course, continues to this day.

Alice Wexler has described this complex and compelling story with intelligence, compassion, and an impressive body of knowledge. She has rescued Phebe Hedges from the cobwebs of history and shown that she did not die in vain. If you can read only one book about Huntington disease, this is the one.