The Woman Who Walked Into The Sea: Huntington’s And The Making Of A Genetic Disease
by Alice Wexler
Whilst it may be the case in all fields, medicine is particularly rich when it comes to the adages, or mantras or aphorisms, whichever is appropriate, of old professors. Soon after a round has started, one hears:
“Every female is pregnant until proven otherwise.”
“Acid licks the esophagus and bites the stomach”
“A patient isn’t dead until they’re warm and dead”
“If you know diabetes you know medicine”
The last one, repeatedly emphasized by a rheumatologist, had always struck me as rather dull – diabetes, to my mind, is not very interesting, and if it encompasses so much of medicine, then I’m not sure I’m in the right field! However, I am sure that neurology is the right field for me, and as will be clear to anyone who reads The Woman Who Walked Into The Sea by Alice Wexler, one could argue that:
“If you know Huntington’s disease, you know a lot about a lot!”
Briefly, HD is a genetic, generative brain disease that involves, primarily, parts of the basal ganglia (the grey matter deep in your brain). The basal ganglia is famous for its role in controlling movement, but it plays a role in most if not all of the functions attributed to the cortex, but that is s topic for another post. Suffice to say that pathways from the cortex ‘loop’ through the basal ganglia, which has a strong modulatory role on it. Anyway, the main features of HD are choreiform movements (and other movement disorders), progressive cognitive decline (dementia) and psychiatric disorders (personality changes, depression, etc). It’s a dreadful diagnosis to receive when only considering the implications for oneself. However, as mentioned, it’s genetic. Roughly speaking, each of your children will have a 50% chance of having it. Even today, it presents an immense challenge to any family, community and physician.
I don’t want to give too much of the beauty away, but Wexler traces the history of Huntington’s in the US, focusing mainly on the communities in Long Island, where George Huntington grew up and observed many of the cases that would lead him to write his famous essay. The attention to detail, and depth of her research is astounding, and it feels like one had spent a few months living in the region a hundred and fifty years ago. What’s more, the cruelty of the fact that, before we knew much about it, Huntington’s seemed like a bizarre ‘family illness’, with the potential to alienate a family from the community. But a central theme in the book is that this is not always the case, and that a community has a central role in defining the nature of an illness. On a smaller level, that of the family, the fact that symptoms start after reproductive age means a child might grow up to see their parent slowly decay in front of them, with a fairly clear idea that whatever is happening could happen to them too. Wexler explores these issues with an unparalleled degree of understanding, given that her mother was diagnosed with HD some time ago. Hence, throughout the book, one is all too aware of the nearly autobiographical feel, the personal element in the history. An already emotional topic is made all the more so.
The interaction between the community and the illness is brought to climax with her discussion of the eugenics movement, which was explicit at the turn of the century, but has remained implicit in modern medicine. As a doctor, I can appreciate the push to ‘eradicate’ a genetic disease with strong genetic counseling. At the same time, I am appalled, and embarrassed, by all that has happened in the name of this ‘cleansing’, and can’t begin to imagine how difficult it must have been to decide whether or not to marry, or have children, given that one might have a chance of suffering from HD.
Wexler ends with a discussion of modern advances, including the development of a genetic test for HD, a process which her sister was heavily involved with. But even here the complexity is often overlooked: should one get tested? I have read quite a few papers on the topic, and even those who test negative suffer from a great deal of depression, and so called ‘survivor guilt’, and might be alienated from a mother and sister who tested positive, for instance. In the end, a negative test is good news, but many argue that one should always live AS IF negative, perhaps excluding when reproducing. On that note, if one does make use of artificial fertilization, and a negative ovum is implanted, one can be guaranteed of a healthy child. But if one simply has a child, without testing oneself, and the child reaches puberty and undergoes the test themselves, a positive result implies that one will, sooner or later, become symptomatic…
Huntington’s disease is a topic that is complex from a scientific point of view, and understanding it will mean one understands a great deal of biochemistry, genetics, neuroscience, neurology, psychiatry, pharmacology, and so on. But it is, perhaps even more, complex sociologically, philosophically and emotionally, and the knowledge one can gain in these areas is immense. At the very least, if every doctor reads this book, and truly engages with the topic, I can only see the relationship with his or her patients improving.
The book is, to put it simply, brilliant, and there are some many themes, anecdotes and facts that I haven’t touched on. And before you ask, I’m not going to tell you what the result of Wexler and her sisters tests were/are. It’s a disease with a mysterious history and a lot more grey than black and white, and you’ll just have to read the book to find out the rest…