Mercies in Disguise: A Story of Hope, a Family’s Genetic Destiny, and the Science that Rescued Them
(2017) is a nonfiction, medical anthropology book written by New York Times
science reporter, Gina Kolata. The book follows two generations of a family plagued with a mysterious disease that combines symptoms of Parkinson’s and Alzheimer’s. Kolata asks, if you knew a debilitating, untreatable, and fatal disease caused by a mutated gene ran in your family, would you take the test to see if you had it? Do you risk having children and passing that death sentence on to them, as well?
Tim Baxley is the first to realize that something is wrong in his family. At his father’s funeral, an offhand comment from a woman about his grandfather—who also died young and of a debilitating disease—makes him wonder if there is more to his father’s long illness and death. Bill Baxley had a neurological disease that echoed both Parkinson’s and Alzheimer’s. Two of his four sons (Billy, Buddy, Tim, and Mike) were doctors (one of them a neurologist), and yet no one knew what it was. Yet, the revelation that it might be generational sends Tim, Buddy, and Mike on a detective hunt through their family tree, looking for relatives who died of a similar disease, or who were already ill with it. The symptoms start with the loss of balance and unsteadiness, and slowly progresses until the victim is rendered immobile to the point that eating, speaking, and voluntary movement is impaired. Furthermore, the victim suffers some memory loss and dementia, although remaining more cognizant than Alzheimer’s patients.
Meanwhile, in the mid-1950s, Daniel Carleton Gadjusek began studying a disease called kuru, found in New Guinea. He discovered that women were infected at a higher rate than men, at 14 to 1. Even children suffered from the disease. The condition was resistant to all treatments. Doctors tried antibiotics, epilepsy medication, aspirin, diet changes and vitamins, tranquilizers, antihistamines, and even testosterone, but none of the treatments had any effect. Eventually, the disease was revealed to be GSS, (Gerstmann–Sträussler–Scheinker syndrome), a rare neurological disorder that often runs in families, and often starts manifesting in the victim’s mid-forties. If a parent has the disease, their children have a 50 percent chance of developing it as well. GSS is related to other diseases, including CJD (Creutzfeldt-Jakob Disease, the human variation on mad cow disease), and fatal familial insomnia. Scientists discover that it can be an infectious disease when they successfully infect chimpanzees and mice, but research reveals a prion gene mutation at the root of the problem, a theory put forward by Stanley Prusiner (who builds his research on Gadjusek’s), and proven by work done by Colin Masters, Tom Bird, Karen Hsiao, and Charles Weissmann.
After Tim and Buddy tell Mike their suspicions, Mike starts building their family tree, locating as many family members as he can and asking them about their own health, as well as the health status of their immediate family, alive or at the time of death. He discovers that several family members died curled up in the fetal position, which is strange and possibly an indicator of the disease. The project takes him about a year, and at the end of it, the disease strikes again: the oldest of them, Billy, begins showing early symptoms of the disease. Shortly afterward, Buddy develops a severe form of insomnia. As soon as the insomnia lifts—it goes away as suddenly and permanently as it arrives, two years after the initial onset—Buddy notices that his hand trembles. At first, he thinks it is carpal tunnel, but soon it becomes evident that he has the family curse as well. He dies almost two years to the day after Billy’s death.
Buddy’s daughter, Amanda, goes to medical school and becomes a nurse practitioner. All the while, the thought that she might have GSS haunts her, so she decides to be tested for the mutated gene. Her older sister, Holly, who is a devout Christian, refuses to get the test. She trusts to God’s providence and does not want to know if she has the gene or if she passed it on to her own children. Amanda’s brother Luke also gets the test, which comes back negative for him.
Amanda’s test comes back positive. Now in her late twenties, she knows that the clock is ticking down. The disease usually strikes anywhere between late-thirties and mid-forties, and victims usually die within five years of the first symptoms. She marries her boyfriend, and they desperately want children. The genetic counselor she sees before having the genetic test done mentions that there are options for having children, that they can use IVR to fertilize multiple embryos, which can be tested for the gene. Embryos that test positive for the mutated gene are disposed of, but negative embryos can be implanted or frozen for later. As a devout Christian who believes life begins at conception, Amanda has a dilemma: does she risk getting pregnant and passing on the gene and its sure death sentence to her children, or does she go through a fertility treatment that she finds fundamentally repugnant? In the end, she decides to do the treatment, which is a wrenching decision—but it works. She bears three children and none of them have the mutated gene, but she knows that her time with them is limited and precious. She will be lucky to live through their teenage years, but she knows that the disease will stop with her. They will have normal lives.
The book is divided into two parts, and each part focuses on a specific generation of Baxleys. The first part deals more heavily with the older generation of Baxleys, and the scientists who are researching the disease. Part II follows the younger generation of Baxleys, namely Amanda, and their struggle to cope with the disease in their family, and possibly even themselves and their children. The book also features discussion questions that would be helpful for book clubs and college classrooms, a notes section, and subject index.