by Jenni Ogden
Simply put, HD is caused when one gene (or allele) of a usually healthy gene pair we all carry is abnormally elongated. This HD gene mutation is dominant, so that anyone who carries it will develop HD. Each child has a 50 percent chance of inheriting the mutated allele from a parent who has it, even if the parent has not yet developed any HD symptoms. On the bright side, the child also has a 50 percent chance of inheriting the HD parent’s healthy allele, in which case the child will never develop HD and will never pass it on. Until it is known for certain whether or not a descendant of a person with HD has inherited the HD mutation, that individual is said to be “at risk.” When Tom’s father was diagnosed with HD, Tom’s risk for developing HD became 50 percent, and if he had children they would immediately be at risk as well, but their risk would be 25 percent. If Tom was diagnosed as HD positive by the predictive genetic test (or if he developed symptoms) any children he had would now have a 50 percent risk of having the disease. If Tom’s predictive test had shown that he did not carry the HD gene, his risk and any future child’s risk would drop to zero.
HD symptoms usually become apparent between the ages of 35 and 45, although there may be subtle signs of the disease long before this. In rare cases, the symptoms do not become apparent until much later, even into a person’s seventies. Chorea is the most common and prominent motor symptom, and is usually amongst the earliest symptoms to develop, due to damage to the basal ganglia, a deep structure in the brain involved in motor movement. These random and abrupt movements usually progress over the course of the disease, from restlessness with only a mild, intermittent exaggeration of expression and gesture; to fidgeting movements of the hands; to an unstable, writhing, dance-like gait, or a continuous flow of disabling, violent, “crazy-looking” movements. Sustained muscle contractions resulting in twisting, repetitive movements, and abnormal postures are also common. Tremor can also occur in HD, although this is more often associated with Parkinson’s disease (PD), another movement disorder, but one that is not usually genetically determined. Other motor abnormalities that HD and PD have in common are rigidity and a slowness of movement that can result in freezing, a terrible symptom where the HD patient is unable to move. Gait abnormalities are obvious in patients who have had HD for some years, with a wide-based, staggering gait—often mistaken for drunkenness—being a common feature. Fortunately, choreic movements largely cease during sleep, although in the latter stages of HD the patient may be sleepy during the day and wakeful at night.
Eye movement abnormalities occur early in the disease in most patients and gradually worsen, resulting in an increasing problem with focusing the eyes. Slurred speech is common, and early in the disease speech rate and rhythm are often abnormal, worsening over time until speech becomes unintelligible. Some patients become mute even before their motor disability is very severe. Eating difficulties include inappropriate selection of food, inappropriate rate of eating, retention of food in the mouth after swallowing, and regurgitation. Choking and asphyxia are also common and distressing symptoms.
As HD progresses, other parts of the brain are affected, including the outermost neuronal layer of the brain—the cortex—and especially the frontal cortex, resulting in patients experiencing cognitive symptoms and ever-worsening “executive” impairments, including difficulties in abstract thinking and planning ahead, and problems shifting thoughts from one topic to another. In the latter stages of HD, serious loss of weight and muscle bulk occur in spite of an adequate diet and feeding. This is not simply the result of constant excessive movement but appears to be an integral aspect of HD.
Many patients with HD experience psychiatric symptoms. Depression is common, especially in the early stage of HD, when the patient is fully aware of their condition and their grim and unalterable prognosis. Suicide rates are almost four times higher among HD sufferers than in the healthy population. Many other psychiatric and behavioral problems are also common—the vast majority of HD sufferers regularly show signs of low mood, agitation, irritability, apathy, anxiety, an inability to inhibit inappropriate behaviors, and euphoria. Delusions and hallucinations are problems for a small number of HD patients. Other symptoms that cause concern for families, and which probably often arise from the psychiatric symptoms already mentioned, include moodiness, aggression, violent behaviors, hypersexuality, paranoid suspicions, lying, stealing, a loss of interest in personal appearance, marked self-neglect, and mutism. As the patient becomes more demented and loses insight, apathy may increase and depression decrease.
In the final stage, patients are severely physically disabled and demented, and thus totally dependent on others. About 20 percent of HD patients become incontinent near the end. Death usually results from a combination of weight loss, immobility, a tendency to aspirate food, and an increased vulnerbility to pneumonia, cardiovascular disease, and other diseases.
There is currently no cure for HD and no way to delay its progression, and the only way to stop it affecting generation after generation of an HD family is by ensuring that no children are born with the gene. Thus couples where one partner is at risk for HD are increasingly opting for assisted fertilization options. For example, the genetic makeup of the fertilized eggs can be determined and an embryo without the HD gene reimplanted in the mother. Other alternatives, including adoption, using a non-HD sperm or egg donor, or choosing not to have children, are also increasingly used. All these decisions require genetic counseling, and in some countries, cultures, and religions none of these alternatives are permitted, acceptable, or available, often resulting in couples risking the birth of a child with the HD gene.
Studies have shown that 90 percent of people at risk for the HD gene decide, as Tom initially did, NOT to have the predictive test. Clearly, for most people, the 50 percent chance that you will discover that you have the gene is worse than not knowing and retaining the hope that you will not have it. In most countries, while it is permitted to test an embryo for the HD gene, once a child is born parents cannot choose to have him or her tested; children must be old enough to decide for themselves, usually in their late teenage years or older.
In common with a number of other medical conditions, the stimulus for setting up research and support institutions for HD initially came from individuals who had themselves been personally affected by the disease. The Hereditary Disease Foundation, which promotes research into HD, was initiated by Dr. Milton Wexler after his wife died from HD and is continued by his daughter, Dr. Nancy Wexler. The foundation has played a central role in the remarkable study that began in 1979 of a large HD population living by the shores of Lake Maracaibo in Venezuela. This group is the best example of how quickly a dominantly inherited genetic disorder can take over a small, isolated community. Painstaking research has revealed that one ancestor with HD who lived in the early 1800s has so far left more than 18,000 descendants, 14,000 of whom are still alive today and many of whom have HD or are at risk for it. This detailed and unique pedigree was a crucial factor in locating, in 1983, the approximate location of the gene involved in HD. In 1993 after further painstaking work by many research groups in the US and UK, a group lead by Harvard Medical School researcher, James Gusella, isolated the precise causal gene and identified the mutation of the gene that causes the disease. At this point an expanded group, called the Huntington’s Disease Collaborative Research Group, published its findings. This group was a collaboration of six US and British research teams, and although Gusella’s team isolated the gene, the credit was rightly given to the entire collaboration, as the research that preceded the gene’s precise identification was an essential aspect of the discovery. This truly collaborative effort is a superb example of how medical and other scientific research should be conducted—a cooperative endeavor motivated by the determination to find the truth and make a difference rather than by competition and the desire for personal aggrandizement.
Marjorie Guthrie, the wife of the iconic American folk-singer Woody Guthrie, who developed HD symptoms ar
ound 1952 and died in 1967, when he was only 55, founded the Committee to Combat Huntington’s Disease, which led to the formation of the Huntington’s Disease Society of America. The aim of this society is to promote education, research, and services for families of HD sufferers. Your donation to any of these bodies, or other HD research or family support associations in other countries, would be money well spent.
Much of the above information about HD has been excerpted from a chapter in my book, Trouble In Mind: Stories from a Neuropsychologist’s Casebook. It relates the true and moving story of an amazing family and how they coped with HD (it has an uplifting ending!). The chapter is named for one of Woody Guthrie’s songs, in his and Marjorie Guthrie’s honor: “Hard, Ain’t It Hard: A Family’s Fight with Huntington’s Disease.”
ACKNOWLEDGMENTS
Many people over the years have taught me how to write, if not this book specifically, my other books. Too many folk, in fact, to name. But for help with this novel I especially want to thank Philippa Donovan of Smart Quill Editorial, UK, whose insightful editing made it better and gave me hope that perhaps one day someone else might read and enjoy it. I also thank my many friends and family for either asking me how my novel was coming along or refraining from doing so when I said, before they had a chance to speak, “Don’t ask!” Thank you to the caring teams at She Writes Press and SparkPoint Studio in the United States, with a special high-five to Brooke Warner, Cait Levin, Krissa Lagos, and Stacey Aaronson for their wise and experienced piloting through the vagaries of the publishing world, and to Julie Metz for the evocative cover. Thank you to She Writes Press authors for their help with titles, proofing, and sharing of experience, especially Laura Diamond, Tammy Hetrick, Céline Keating, Diana Paul, and Jodi Wright. To Caitlin Hamilton Summie, my superb publicist, thank you for believing in my book and telling others about it, and thank you dear friends of my Street Team for doing the same. But most importantly, I thank John, my long-suffering husband, who never wavered in his support of my lovely obsession.
READING GROUP QUESTIONS
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TOPICS FOR DISCUSSION
1. In Chapter 1, 49-year-old Boston neuroscientist Anna Fergusson describes herself as “introverted,” “a washed-up old spinster,” and “an ivory tower nerd, clueless about people.” This fits a popular stereotype of older, unmarried women scientists. By the end of Chapter 1, what was your “deeper” impression of Anna? Did you see any other more positive personality characteristics in her that made her decision to rent a cabin for a year on a tropical island on the far side of the world believable?
2. Losing a major research grant is equivalent to being made redundant from a long-term job—especially difficult for middle-aged people. Have you (or a family member) ever been in a similar situation? How did it make you feel? Do you think young people today have a different attitude to changing jobs than baby boomers, and if so, what can baby boomers learn from them?
3. Have you ever been to a tropical island? Looking back, what evokes the most powerful memories for you of that experience? Can you imagine living on such a small island for an entire year? Some people see themselves as primarily “city” or “country” people. Do you think Anna would have viewed herself as a “city” person at the beginning of the novel, with rural or wild places for holidays only? What are you: a “city” or “country” person?
4. Whether you are a “city” or “country” person, or somewhere in between, do you sometimes find solace being alone in a “wild” place? Do you think that this need is an intrinsic aspect of human nature, or is it learned—for example, from good wilderness experiences in childhood?
5. Ever since The Horse Whisperer by Nicholas Evans was published in 1995—selling over 15 million copies, making it one of the best-selling novels of all time—the label “whisperer” has been attached to all sorts of things: dogs, babies, books, ghosts, and Alzheimer’s disease sufferers, among others. There are hundreds of books with “Whisperer” in the title on Amazon. What did Tom’s tongue-in-cheek nickname, “The Turtle Whisperer,” convey to you when it was first mentioned? Did the metaphor with Anna as the reclusive turtle, hiding in her shell and being whispered out by Tom, become clear to you at some point in the novel?
6. Wild places and wildlife—particularly turtles—and the wonder and joy these bring to Anna play a pivotal role in her transformation. She almost seems to identify with turtles—their reclusive nature, their mothering instincts, and perhaps the fact that they are central in Tom’s life. Have you ever had a strong emotional connection with an animal—perhaps a pet? What do you think of the notion that lonely people are more likely to build such deep bonds (even if only one-way!) with animals?
7. When it comes to sex and intimate relationships, double standards are still present. Even today, older woman–younger man intimate relationships raise some eyebrows. Certainly Anna, with her low self-esteem, didn’t hold out much hope that Tom would find her desirable. How did Tom convey to Anna that in his eyes she was attractive and the difference in their ages was of no account? If Anna had not seen for herself the love between her mother and her younger husband, do you think she would have had the confidence to take the courageous step of almost begging Tom to let her stay with him? If you are middle-aged or older, do you ever feel invisible, and do you think this is primarily an experience women, and not men, have?
8. As we discover Anna’s backstory, it becomes clear that she’s always favored her father over her mother. Later in the novel we meet her mother, and it is difficult to believe that she was ever the uncaring or distracted mother Anna remembers from her childhood. Where parents are separated and one parent (usually the mother) is the primary caregiver, and the other parent just takes the child out for treats, do you think it understandable that the child sees the “treat” parent as her or his “hero”? How might this situation be avoided?
9. Anna comments that she is “clueless about people” and perhaps believes that that is why she has difficulty making friends, both as a child and an adult. Why do you think the residents of Turtle Island befriend Anna so readily? Is this an example of the city/country situation, where people in cities prefer to be anonymous but in small communities this isn’t possible—or is it simply that perhaps Australians are more friendly than Americans? How often do you extend the hand of friendship to new people in your area?
10. Pat becomes an important part of Anna’s life. What is it about Pat that draws Anna to her?
11. Neither Tom nor Anna likes Tom’s boss, Collette, very much. In Tom’s case, do you think he would have been more comfortable if his boss had been a man, or do you think personality was more the issue? In a work situation, does gender ever matter to you, or is this always secondary to personality, management style, etc.? (Be honest!)
12. Anna originally trained as a doctor, but discovered she was “hopeless at anything that involves actual patient contact” and thus retrained as a lab-based scientist. On Turtle Island she is challenged by a number of medical issues: Hamish’s birth; Pat’s breast cancer; her own menopausal symptoms; Morrie’s Huntington’s disease symptoms; and, most dramatically, the possibility that Tom has the Huntington’s disease gene. Do you think Anna’s responses to those situations are influenced by her medical training, or are her responses simply those any one of us might have in similar circumstances? If you had to deliver a baby, do you think you would know what to do and be able to follow through?
13. When Pat returns to the island after her first round of chemotherapy, she is moved when she is greeted at the wharf by all her friends who have shaved their heads in support. Would you shave your head if you thought it would help a friend with cancer feel more supported? Why do you think symbols like this can bring forth such strong emotions?
14. During the birth scene, did you think something would go wrong? Were you surprised when it all went smoothly? How real did it feel to you? Whose “head” were you in while you were reading the scene—Anna’s, Kirsty’s, or per
haps poor Ben’s? Generally when reading a novel, are you in the head space of the character whose point of view is prominent (Anna, in this case), or do you find yourself experiencing the situation from the point of view of one of the other characters, perhaps a character you empathize with strongly?
15. When Anna first meets Morrie, given that people like Morrie are the very participants she has been researching for years, she is ashamed of her initial feelings of repulsion and fear. Do you think her decision as the head of the lab to have her research assistants work on a one-to-one basis with the Huntington’s disease patients and their families so she could avoid personal contact with them suggests that she has been exploiting them for the sake of her research? Anna’s reaction is perhaps extreme, but it is not uncommon to feel fear or other negative or inappropriate feelings when we first meet someone very different from ourselves—especially people who are severely mentally or physically disabled. What strategies can you think of to help yourself or your children feel at ease with all kinds of people, and to “see” the person inside?
16. Anna’s specialty area is Huntington’s disease. When she finally discovers why Tom won’t commit to a long-term relationship, she can’t understand his decision not to be tested. After all, he has a 50 percent chance of not having the gene, and then they could be together forever. There are many difficult ethical decisions to be made when deciding to have this test, and clearly Tom has made his decision. Do you think Anna would have had a different response if she had not been an HD specialist? (You may find it helpful to read my “Author’s Notes” on HD to get an idea about what Anna knew about HD as an expert, and what Tom had experienced as he watched his father deteriorate.) Have you ever been in a situation where someone you love makes a health decision you disagree with? Imagine a scenario where your partner refuses to have treatment for a heart condition that may extend his or her life, or decides to have a vasectomy or a tubal ligation because he or she doesn’t want children even though you desperately do. Do you think there are some health decisions that should be jointly made? If partners can’t agree, do you think you might see your partner’s decision as a sign that he or she doesn’t love you enough?
