One by one, members of the Baxley family of Hartsville, South Carolina - respected members of the devoutly Christian community - were struck by a devastating neurodegenerative illness. The first victim was family patriarch Bill Baxley. Bill's symptoms began with a shuffling walk, which escalated to stumbling, weaving, and lurching. As Bill's illness progressed his memory faded, he lost control of his hands, speech became difficult, and he was unable to eat without choking. Eventually Bill could no longer walk or talk. The senior Baxley was confined to a wheelchair, his face a frozen mask, only able to communicate by grunting, nodding, and clumsily pointing to an alphabet board. For sustenance, Bill was fed liquified meals prepared by his devoted wife, Merle. Bill's children - Billy, Mike, Buddy, Tim, and Andrea - looked on with sadness and dismay.
The medical community was mystified by Bill's illness. Starting in 1988, Bill's sons took him to doctor after doctor, all of whom diagnosed the sick man with 'a combination of Alzheimer's and Parkinson's diseases.' In desperation, sons Buddy and Tim - who were physicians - performed their own medical tests and devised their own treatments, but nothing helped and Papa Bill died in 1998.
Serendipitously, a woman at Bill's funeral - after some words of condolence to son Tim - mentioned, "I remember [Bill's] daddy walking through the plant. He had to hang on to the machines." This was the first hint that Bill's disease might be hereditary - passed from one generation to the next. Sadly, the inheritable nature of Bill's illness was confirmed when son Mike researched the family tree and found ancestors with the condition.
In time researchers learned that Bill's illness was related to two other neurodegenerative diseases, Kuru and Creutzfeldt-Jakob Disease (CJD). Kuru is a sickness seen in members of the Fore tribe of Papua New Guinea. In the 1950s and 60s, American doctor Daniel Carleton Gajdusek - who worked with the Fore - discovered that brains of Kuru victims are filled with tiny holes and contain amyloid plagues - similar to the brains of people with Creutzfeldt-Jakob Disease (CJD).
Gajdusek's research also showed that both Kuru and CJD are caused by infectious agents - thought to be 'slow viruses' - that could be transferred from one animal to another. Gajdusek won the 1976 Nobel Prize for his Kuru work, but was never able to isolate the 'slow virus.'
Following Gajdusek's studies, an Amerian scientist named Dr.Stanley Prusiner became determined to isolate the agents that cause Kuru and CJD. He discovered they aren't viruses at all. In fact, the culprits are defective proteins called 'prions' which can be passed from diseased to healthy individuals. Furthermore, mutated genes code for the nasty prions. In 1997, Prusiner also won a Nobel Prize for his work.
In 1999, still unaware of the identify of their disease, additional members of the Baxley family began to succumb. Oldest son Billy fell ill first, followed by his sibling Buddy, and then Aunt Faye (Papa Bill's sister). Enlightenment was on the horizon though. Tim Baxley - studying for his medical boards - came across an article about Gerrstmann-Sträussler–Scheinker Syndrome (GSS).....and came to realize this was his family's ailment Patients with GSS - like victims of other neurodegenerative diseases - have brains filled with tiny holes, plaques, and damaged neurons.
By the early 2000's a blood test could detect the presence of the gene that causes GSS. This created a dilemma for the Baxleys. Would at-risk family members want to know if they were destined to fall ill.....or would they prefer to remain in the dark? Brothers Mike and Tim were tested early and learned they were free of the deadly mutation. Other Baxleys were more ambivalent, especially sick Buddy's children.
Buddy's daughter Amanda was a rebellious teen who grew up to become a nurse practitioner. For years Amanda wrestled with the problem of being tested for GSS - did she want to know if she had the gene or not? In time, hoping to get married, Amanda HAD to know! A good portion of the book tells her story.
Gina Kolata covers a lot of territory in this book. She gives a brief overview of neurodegenerative diseases and prions - and describes the work of Gujdusek and Prusiner in some detail. All of this is very interesting and informative. Kolata also provides a sympathetic picture of the extended Baxley family, all of whom show remarkable strength and faith in the midst of their ongoing ordeal.
On the downside, parts of the book read like fiction. Kolata dramatizes scenes - providing conversations and inner thoughts - that seem made up. To me, this was distracting.
Still, this is a very good book about an engaging topic. Highly recommened.
[FYI: If I was in the Baxley's situation, I'd get tested in a second. Better to know than live in dread (IMO)]
Thanks to Netgalley, the author, and the publisher for a copy of this book.