In her first novel, Rules for 50/50 Chances, author Kate McGovern highlights the challenges of being at risk for Huntington’s disease through Rose, a 17-year-old Bostonian who is navigating the challenges of senior year of high school while managing her mother’s worsening HD symptoms. Her mother, who did not know she was at-risk for HD, was diagnosed when Rose was 12 years old. Rose is a talented ballet dancer who has spent the last five years of her life watching her mother decline from the genetic surprise to her family. Rose tries to figure out which colleges she wants to attend, she tries to balance the reality of her genetic status and her family’s needs. All the while, she is falling in love with a teenager who must also help his family manage another genetic condition—sickle cell anemia.
McGovern does an excellent job highlighting the thought process of a young person affected by the disease not only through her parent’s experience, but her own genetic status as well. McGovern consults Huntington’s disease experts, accurately explaining the disease genetics early on.
“Ours is a mutated gene on chromosome 4. The gene’s called huntingtin, and if yours is messed up like my mother’s, you end up with Huntington’s disease. Don’t ask why the two huntingtons—the gene and the name—are spelled differently; I have no idea. What I do know is that if you’ve got that mistake on chromosome 4, like my mother does—the tiniest typo in a book with a billion words—then your huntingtin gene goes haywire and basically wreaks havoc in your brain. Things start deteriorating in your mind and your body, until you’re not the person you once were, and then they keep deteriorating until you die. Slowly, painfully, and without any chance of reversal…Oh, and as far as my genes are concerned—it doesn’t matter that my father doesn’t carry the mutation on chromosome 4. I only need to inherit the mutated gene from my mother to be royally screwed. Which means that after watching my mother fall apart, I have a fifty-fifty chance of falling apart, too.” (Page 4)
In many novels and works of fiction, the experience of Huntington’s disease can be overdramatized in a way that fetishizes neurodegenerative diseases and portrays them as short-term conundrums for a few “victims” who have little autonomy or control over their lives. McGovern, however, manages to balance the reality of the devastation with the emotions and feelings of a young person at risk for the disease. Early on, McGovern describes Rose’s internal conflict as she attends a Rare Genes Walk with her family.
“But now, the sight of all those kids in wheelchairs and their parents plastering smiles across their faces like they’re actually okay with this makes me feel kind of nauseous. Plus, Mom can’t walk the whole way by herself anymore, so she uses her own wheelchair, and walking alongside her makes me feel like I’m supposed to be one of those smile-plasterers, too. It’s all, ‘Hey, world, I’m so strong!’ I’m not.” (Page 8)
This book highlights the many ways in which Rose is still a normal teenager. She is falling in love for the first time, experiencing anxiety over college applications, going to school, hanging out with her best friend, and continuing to follow her passion of ballet. However, while Rose is able to pursue these activities, she does so with the presence of Huntington’s disease in her life. Furthermore, her own at-risk status haunts her as she tries to decide whether or not she wants to pursue dancing, move across the country for school, and so on.
McGovern writes in a way that allows the reader to follow Rose’s decision making process as Rose decides what is best for her. While genetic testing is a big deal, Rose acknowledges that testing positive at 18 years of age would allow her many more healthy years before her symptoms would begin. Rose’s mother was blindsided by the diagnosis, as Rose’s grandfather died before they could determine Huntington’s disease as the reason for his illness. Rose, to some degree, does not want to experience the same shock if she were to find out she had HD once she was symptomatic.
“It’s not that I’m waiting to make a decision, waiting to see where life takes me, waiting to find out what happens next. What I’m waiting on has already happened. It happened before I was born. If I knew the answer, if I knew I didn’t have the mutation, then the answer to those questions could still be maybe, at least the maybe would be in my control. And if I have it, if I’m positive like Mom, what’s the point in imagining all the possibilities? Might as well be real about it and get back to the business of dying…Then again, if I have it, I’ll still have probably the next twenty years before my symptoms really start, maybe longer. Do I really want to get ready to die ahead of time?” (Page 49)
Rose’s character is thoughtful and considerate, yet able to express her frustration and anger in a way that is believable and understandable. While she is fairly confident in her decision to pursue genetic testing at 18 years of age, she presents both the pros and cons of genetic testing, understanding why somebody may or may not decide to pursue the test as she has. However, in some ways, it is also clear that Rose is selfish in her decision making process. Genetic testing is a process that affects the entire family, even if it is just one person receiving their results. When Rose decides to pursue genetic testing without her father’s consent, she is doing so while risking her father’s feelings. While it is Rose’s right to undergo genetic testing, this decision highlights the extent to what Huntington’s disease is a family disease. Sometimes, a dose of selfishness is needed to pursue the genetic test, but doing so can have repercussions for one’s family members, which makes the decision to test all that much more difficult.
Rules of 50/50 Chances not only explores the role of family, but also friendship in the Huntington’s disease experience. Rose’s best friend Lina is always present to offer a listening ear and supportive advice while her friend decides whether or not she wants the test. In one scene, Rose is finding it difficult to cope with her college decisions and her desire to protect her mother. Lina reminds Rose: “You’re not required to sacrifice every kind of fun because you have a sick parent.” (Page 137). Lina’s character is necessary for reminding Rose that, while she is dealing with a challenging family disease, it does not need to dictate her life. This reminder of autonomy and control over one’s life is a valuable reminder for young people affected by HD.
Towards the end of the novel, Rose pursues genetic testing. She visits her family’s doctor, Dr. Howard, to discuss possible results. As Dr. Howard explains:
“If your test is negative, if it shows that you have between ten and thirty-five repetitions of the DNA bases CAG on the fourth chromosome of the huntingtin gene, you are in the normal range and will not develop HD. If you have more than thirty-nine repetitions, you will develop HD at some point in your life. And between thirty-five and thirty-nine—”…”I know,” I interrupt. I’ve read all this online. “It’s considered borderline. I may or may not develop the disease.” Certain uncertainty. A lifetime of questioning every decision I can’t make immediately, every time I slurp my soup.”
“That’s right. Rose, really, speaking as a physician with a huge amount of experience with HD patients and families, I’d advise you to wait on this. You’re seventeen. Even if you had a positive test result, it will be years before you develop symptoms of HD. Put it off at least a few more years. Consider it then, when you start thinking about a family.” (Page 175)
Dr. Howard is doing his best to counsel his young patient. While Rose eventually sees a genetic counselor to help her through the process, Dr. Howard reveals his bias towards young people testing. While this viewpoint may not be helpful to Rose, it does highlight the conflict a physician might face when guiding a young person, or anyone for that matter, through such a harrowing life choice. Considering the rates of suicide in the Huntington’s disease community, a doctor might feel hesitation to recommend a genetic test that may send an individual into depression or worse. Furthermore, he requests that she reconsider the test when she wants a family. At that point, she may consider whether or not she wants to risk passing the gene on to children or if she wants to pursue alternative methods that would eliminate the risk of inheritance through in-vitro fertilization.
At the end of the novel, Rose resolves many of the dilemmas she introduces at the beginning of the text. She learns how to accept love from the boy that challenged her thoughts on romantic relationships throughout the novel. Rose decides which college to attend. She makes a final decision on her genetic testing. Ultimately, Rose acknowledges that, while her family was handed an unlucky genetic sequence, it does not have to dominate her life. Whichever decision she makes, Rose knows that Huntington’s disease may influence her life, but HD will only consume her if she lets it.
K Powers 2016
The Shortest Way Home is a novel that follows 44-year-old Sean as he returns to the United States after 20 years of serving as a nurse in war-torn and underdeveloped regions within South America and Africa. Upon his return, he discovers the extent to which his family has become dysfunctional. Sean’s family has never been normal, though. When he was young, Sean’s mother passed away from head trauma related to her Huntington’s disease, causing a chain reaction of disastrous events in his childhood. Now, back in Belham, Massachusetts, Sean finds his aging Aunt Vivian trying to take care of his orphaned nephew Kevin while his sister Deirdre itches to leave Belham to pursue her acting career in New York City.
Sean has no intention of staying permanently in Belham when he arrives. He desires to recuperate from his stressful job and then make his way down to Haiti to help with the lingering health repercussions caused by the 2010 earthquake. However, a series of events makes Sean realize that he needs to stay in Massachusetts.
When Sean was a child, his mother was diagnosed with Huntington’s disease at Tufts University’s Medical Center. Her sister, Aunt Vivian, never showed signs of the disease. The three children, Sean, Deirdre, and Hugh, moved in with Aunt Vivian along with their father when 15-year-old Sean’s mother died. However, unable to handle his loss and care for his three children, Sean’s father disappeared for over 30 years, leaving the children under the care of the harsh, unsympathetic Aunt Vivian.
While working at a medical clinic in Kenya, Sean discussed his mother’s disease with a doctor on staff. She has a difficult time understanding why Sean, who is 44 years old, has never been tested for the disease. None of the three children made the decision to test and Sean has difficulties explaining why he didn’t want to know. He told her to “Put yourself in my shoes. If I were to tell you that I could say for certain when and how’d you die, and that you could linger for years, becoming an enormous burden to your family…would you still jump at the chance?” (p. 16)
Sean takes every measure he can to prevent his DNA from passing on to the next generation, in case he does exhibit signs of the disease. He has a vasectomy and is still careful about using protection during intercourse.
Sean has never escaped the at-risk cloud hovering over his head. He never travelled for leisure, but he does have a plan in place if he ever becomes symptomatic. He intends to travel to Tierra del Fuego and commit suicide there as an exit route from the disease
As Sean settles in to his old hometown, he continues to run into his high school friends and acquaintances. Some of them are surprised to see him in such good shape, as they had assumed he would have the disease by now. One of his friends, Rebecca, becomes irritated by his presence at first because he told her in high school that he would be dead and gone by the time he reached this age. Other friends notice certain ailments of his, such as extreme back pain, and often attribute it to the beginning signs of the disease. However, Sean tells them that he believes he got lucky and did not inherit the mutant gene.
At this point, his Aunt Vivian, who is also at-risk for Huntington’s disease and never tested, is in her early 80’s. She is experiencing signs of dementia. His friends are concerned that it is late-onset HD, but Sean and his sister believe it is a form of Alzheimer’s. Aunt Vivian has no intention of visiting a doctor to determine the cause of her bouts of forgetfulness.
Kevin, Sean’s nephew, is at-risk for the disease as well. His father, Sean’s brother Hugh, passed away a few years prior from pneumonia and had never tested nor showed signs of the disease. However, Kevin deals with a sensitivity disorder and Sean doesn’t know the right time to discuss Kevin’s at-risk status with him. To further complicate matters, Kevin’s mother ran away before Hugh’s death, putting him under the care of Aunt Vivian. Sean realizes that he will probably be Kevin’s next caregiver.
Sean also decides to stay in order to commit to his new relationship with high school friend Rebecca. One of their arguments centers on the fact that Sean might need to become Kevin’s legal guardian, but has not found out if he will develop the disease. Sean accuses Rebecca of urging him to test because it is in her best interest for the relationship. Rebecca disagrees that this is not her intention. A diagnosis of the disease will devastate her as well and she is very scared and uncertain of his situation.
In the end, Sean decides to stay in Belham and mentions to Rebecca that he has started the process of genetic testing. He is ready to know.
The Shortest Way Home is a great read from Juliette Fay. Fay’s inspiration for the book came from a friend whose mother had Huntington’s disease. The friend had decided never to get tested and, in middle age, had not yet shown signs of the disease. Fay thought about what it must be like to be HD-negative yet grow up assuming you’ll develop the symptoms.
Fay does an excellent job of describing the hardships that Huntington’s disease families face, without misleading readers regarding scientific facts. The characters are very relatable, especially as they struggle to cope with Sean’s at-risk status as a middle-aged man. As the reader watches Sean struggle with his personal desires and the needs of his family, the storyline provides an excellent glimpse into the sacrifices, joys, and pains of living in a family affected by this disease.
This book is appropriate for young adults and older.
Edited by Sharon McClellan Thomason
Published by Help4HD International
Published: July 2015
Life Interrupted is a collection of 12 autobiographical stories written by individuals who have or are impacted by Huntington’s disease (HD). The book was published by Help4HD International, a non-profit dedicated to raising awareness and providing support for those affected by HD, particularly in underserved areas. Often described as a combination of Alzheimer’s, schizophrenia, and Parkinson’s, HD has been called the “worst disease known to mankind”.
As an autosomal dominant genetic disorder, HD wreaks havoc within the families that it exists. Several of the authors are not only coping with their own or a partner’s diagnosis, but also have parents, children, aunts, uncles, and cousins fighting the same battle.
Life Interrupted was published in order to raise awareness about Huntington’s disease; and does so by allowing the reader to briefly witness the journeys of twelve incredibly strong individuals as they face the monster of HD, bringing the reader intimately into the lives of the authors and their families. Life Interrupted serves as a valuable awareness tool in helping the public understand the ways and extent to which HD turns lives upside-down.
The book opens with a foreword by Sharon McClellan Thomason, the managing editor of Help4HD International’s online newspaper The Huntington’s Post. Her first husband died of complications from HD and her son is currently symptomatic, a story which she details in Chapter 11, titled “Into the Storm.” A dedicated activist, in her foreword Sharon expresses the difficulty she encountered not only in telling her own story but also in reviewing the stories of others for the editing process. She also communicates hope that the book will help achieve Help4HD’s mission of creating a world “where everyone know what Huntington’s disease and Juvenile Huntington’s disease is; a world in which compassion is a normal response to the devastation that this horrific disease bestows on everyone”.
The book closes with an afterword by Jimmy Pollard, an HD activist and expert in specialized care for those with HD. He also works with the Cure Huntington’s Disease Initiative (CHDI) Foundation and travels worldwide to raise awareness and teach about how to care for those with HD.
Every story presented in Life Interrupted is as sincere and candid as the last, hiding no details of the horrors of this disease. Major issues within the HD community, such as genetic testing, assisted living, public benefits, family dynamics, and end-of-life care, are raised again and again by the families living through it all. The honesty of it all sends an undeniable message: this book matters, these stories matter, pay attention world.
The authors in Life Interrupted are presented as follows. Please note that some names have been changed for the protection of those who have or are at-risk for HD and may therefore suffer from discrimination in the workplace, care facilities, and in public.
Foreword: “Life Interrupted” by Sharon McClellan Thomason
Chapter One: “Through the Eyes of a Love Child” by Lisa Davenport
Chapter Two: “Written Descent” by Sarah Foster
Chapter Three: “Just Listen” by Ben Lamoreau
Chapter Four: “Three Stolen Futures” by Jeannie Grundborg
Chapter Five: “Marrying into a Family with Huntington’s Disease: A Fight to End a Generational Disease” By Frances Sandaña
Chapter Six: “I’m Not Sick… I Just Have HD” by Vicki Owen
Chapter Seven: “Accidental Discovery” by Roberta Brink
Chapter Eight: “Woody, My Wife-in-Law, and Me” by Pat Wolf
Chapter Nine: “Turning Tears into Hope” by Margaret D’aiuto
Chapter Ten: “Love in Action” by Brenda A. Vega Fonseca (Translated from Spanish by Daniel Medina)
Chapter Eleven: “Into the Storm” by Sharon McClellan Thomason
Chapter Twelve: “When Strength and Resilience Are Your Only Option” by Katie Jackson
Afterword: “Appreciations and Lessons from a Fellow Traveller” by Jimmy Pollard
More information about Life Interrupted can be found here.
You can purchase a printed or digital copy at these sites:
The Woman Who Walked Into the Sea, published in 2008, is a historical account of Huntington’s disease in America. Alice Wexler, author of Mapping Fate and sister to geneticist Nancy Wexler, painstakingly documents the disease in East Hampton, Long Island families from its earliest historical appearance to the present. The book is rich with documents, and Alice Wexler grounds the history of Huntington’s disease (HD) through individual narratives and discussion of broader social movements.
Wexler argues that early perceptions of HD differed a great deal across communities. Although some individuals with HD were vilified, records of social standing and wealth indicate that others held prominent positions in their communities. She argues that the illness gained clinical interest in the 19th century because of a changing understanding of heredity(1). Heredity became central to practical breeding, conversations about race, and in tracing causation for disease and social ills. George Huntington’s paper on “hereditary chorea” appeared in 1872(2), and by the mid-1880’s, clinical reports of “hereditary chorea” began to appear in many countries.
By the 20th century, heredity became a legitimate focus of scientific inquiry and Huntington’s was the topic of many eugenic studies. Davenport, a prominent biologist based out of the Eugenics Record Office in Cold Spring Harbor, theorized that Huntington’s presence in the United States could be traced back to a few Connecticut colonists. Relying on tenuous diagnoses and hearsay accounts of family histories, this was the first origin theory of HD in the U.S. Another researcher, Vessie, connected the disease to individuals accused of witchcraft, criminal acts, and sociopathic behaviors. His work would not be fully discredited until the 1970’s, and helped legitimate prejudicial associations in the medical literature for decades.
Like many diseases, Huntington’s had been linked to social class in the earliest reports of the disease. Davenport tied HD to other nervous disorders and ‘feeble-mindedness,’ and held that a small number of individuals resulted in an expansion of disease across the US. This strengthened the call for eugenic legislation. The 1920’s through 1940’s were a dark point for people with Huntington’s and other genetic disabilities and diseases(3). For unknown reasons, American publications on Huntington’s disease decreased in the 1920’s, and articles on treatment and therapeutics disappeared. In 1927, the Supreme Court upheld a Virginian program of sterilizing the mentally disabled. In 1935, a committee of the American Neurological Association defended the practice of sterilization with the consent of a patient or their caretakers, and called for restrictions on marriage for conditions like Huntington’s.
Negative portrayals of Huntington’s did not begin with eugenics, but the movement increased these portrayals in medical writings and occasionally in the popular media. However, by the 1970’s, with the backdrop of civil rights, informed consent, and feminism, the cultural landscape around HD had changed. In 1976 and 1977, public Congressional hearings were held to respond to demands of families affected by HD. Some two thousand people, mostly family members, caregivers, and health professionals, came forward to discuss their experiences. Family members placed emphasis on the need for social services and affordable facilities for long-term care. They called for more informed and sympathetic physicians, more research for a treatment and a cure, and the need to end the stigma of talking about the disease.
Wexler’s very thorough book emphasizes how HD can be understood as part of “larger cultural narratives.” She emphasizes that rather than simply dismissing the history as an example of bad science, we need to recognize that substituting scientific fact for superstition does not necessarily reduce stigma and prejudice. For example, knowledge of the Mendelian dominant inheritance of HD and vague notions of a familial curse coexist just as easily with arguments for eugenic sterilization. Wexler writes, “science is always a complex construction that involves arguments about meaning and value.” As we continue to search for treatment and a cure, constructing scientific knowledge in ways that benefit the HD community is tightly linked to our politics and priorities.
(1) Medical literature on HD was considerable by the early 1800’s.
(2) Although HD would be named after him, George Huntington was not the first to describe symptoms of HD. Several 19th century Americans and at least one Norwegian described the illness before him. Medical historians have speculated that early modern European portrayals of chorea and St. Vitus’ dance may have also included cases that would be diagnosed as HD today.
(3) The eugenic movement began in the late 19th and early 20th century, but the most hostile representation of HD in American medical literature emerged in the decades following World War II.
In Eternal on the Water Jonathan Cobb meets the love of his life, Mary, while kayaking in backcountry Maine. Their perfect love is shortened by Mary’s illness of Huntington’s disease (HD). Published in 2010, this book is a fictional account of Jonathan and Mary coming to terms with the consequences of HD and the difficult decisions they have to make.
Summary: (Spoiler Alert!)
The book is primarily told from Jonathan’s perspective as he relates his and Mary’s love story to a police officer after Mary’s dead body is found on the Allagash River. The story begins when the two unexpectedly meet while kayaking on the same river years earlier. Jonathan is taking a break from his teaching job to follow Thoreau’s path down the river and Mary is lecturing group of girls with special needs about ravens, her academic specialty.
The two are quickly united by their love for nature when Mary reveals that she has a family history of HD. She has never been tested but feels certain she carries the disease. It quickly becomes clear that Jonathan and Mary are soul mates. However, Mary is hesitant to get involved with Jonathan because she potentially has a debilitating and life-ending disease.
Although Mary does not want to know her genetic test results, she agrees to let her mother disclose her results to Jonathan. Confident that Mary is the love of his life, Jonathan does not let her positive HD status deter them from having a happy life together. The story follows the couple through their travels in Indonesia and home in New England.
As the years pass, Mary begins to develop symptoms of HD. After watching her father struggle to the end with the disease, she decided long ago that once her quality of life began to deteriorate, she would end her life. She asks Jonathan and her family to support her in this decision. The book ends with a celebration of Mary’s life, as she floats for her final time down the Allagash River.
Portrayal of Huntington’s disease:
Huntington’s disease and associated challenges figure prominently in this work of fiction. Mary informs Jonathan about the genetic disease beginning on page 97.
“I often tell people my father died of a heart attack in a Chinese restaurant, but that’s not true. He died of Huntington’s when he was forty-one” (97).
Mary accurately describes the symptoms, prognosis, and discovery of the gene for HD. Despite her candid acceptance of her fate, she keeps the disease a secret from most people. This decision reflects the history of stigma associated with Huntington’s and highlights the intensely personal nature of coming to terms with having HD in one’s family.
“What if the test comes out and I learn I won’t make it to forty? Or even thirty-five? How do you go on after that? I try to live my life fully right this instant. Every instant” (99).
The book addresses the difficulties of deciding whether or not one should be genetically tested. Mary eventually decides to be tested for the sake of her loved ones, but she doesn’t want to know her own results. For Mary, the downside of a positive test is too great. She copes with the possibility of having HD by living each day to the fullest. This contrasts with her brother’s decision to know his results. For Freddie, “knowledge is power” (272). Look here for more information on the genetic testing (http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/genetic-testing/), and specifically deciding not to be tested (http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/genetic-testing/#what-if-i-decide-not-to-be-tested).
“When she was about ten we – my husband and I- we asked the hospital to run the tests” (150).
An additional concern with genetic testing is consent. Mary’s mom reveals that although Mary doesn’t know her status, she and her husband secretly had her screened as a child. Her mom references the difficulties in getting the test by saying, “We had to move heaven and earth to get it done”(150). Genetic testing guidelines stress that the decision to undergo genetic testing should only be made if an individual can give informed consent. The HDSA Genetic Testing Guidelines stress that minors should not be tested unless there is a medically compelling reason to do so. The book deviates from what would be considered normal testing procedures. For further information on genetic testing, please read more here (http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/genetic-testing/).
“I have already arranged things so I can’t have children” (98).
The story mainly centers on the long-term consequences of having HD. For Mary, the long-term consequences motivate her hesitation to begin a serious relationship and her choice not to have children. If one parent has HD, there is a 50% chance of passing on the disease each time they conceive. The decision to have children is deeply personal for HD patients. However, Mary’s decision glosses over the fact that there are many methods available to help someone ensure their child does not inherit Huntington’s. In addition to adoption and sperm donation, pre-implantation genetic diagnosis also exists, for which a couple undergoes in-vitro fertilization for an embryo that has been screened for genetic diseases. A fetus can also be screened prenatally for HD and other genetic disorders. This is a morally complex decision that the book only briefly touches on. See this article for more information on family planning. (http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/family-planning/).
I’m not going to run and jump off a bridge, but in time, when it’s right for both of us, I’ll leave” (240).
Suicide ideation is one of the most pressing and difficult issues facing the HD community. Mary decides to take her life in this novel. She is candid with Jonathan about her decision to commit suicide and expects his support. She says, “You will let me go and that’s what needs to happen now”(320). The book depicts a heartbreaking choice, made seemingly easy by the unwavering support of loved ones. The reality is likely far more complicated, but it is an important issue to address.
Eternal on the Water is an idealistic portrayal of one couple’s struggle with HD. The touching story centers on their love for nature, always returning back to the Allagash, where Mary is ultimately ‘eternal on the water.’ Despite this romantic perspective, the book examines real challenges both HD patients and their loved ones face. While some of the details on the topic of consent required for genetic testing and on the seemingly inevitable decision not to have children are debatable, the book is a heartbreaking look at the impacts of HD. It is a celebration of love and life, no matter how fleeting.
Length: 88 pages
This handbook, written by Dr. Martha Nance and published by the Huntington’s Disease Society of America, is a comprehensive overview of the typical issues faced by caregivers of those at-risk for or with Juvenile Huntington’s disease (JHD). A total of eight chapters, the book goes through the progression of care for everything from before the diagnosis of a child to end-of-life care.
Chapters One and Two begin with a description of the process of diagnosis of a child with JHD, which is typically longer for children than adults due to variation in symptom presentation as well as ethical barriers to genetic testing in minors. The authors also provide advice and guidelines for caregivers to use as they begin assembling a team of health care professionals for their child’s care. Chapter Three is an overview of medical care, including what to expect with regards to the behavioral, cognitive, and movement components of the disease as it progresses. Chapter Four provides considerations for daily life of someone with JHD such as school, meals, transportation, and hygiene. Chapter 5 explains how the later stages of the disease will affect both the patient and caregiver(s) and provides a functional scale for assessing JHD using school attendance, academic/developmental performance, chores, activities of daily living, and living situation as metrics.
A major challenge for many JHD families is navigating and accessing the financial, legal, and social services needed in order to care for someone with JHD. Chapter 6 provides an introduction to these issues and information on relevant resources, including planning for disease progression, Supplementary Security Income (SSI), Medicaid, and disability. Chapter 7 proceeds with a discussion about the importance of caring for caregivers, including parents, professionals, and siblings. The final chapter offers hope on research efforts being made as well as a realistic explanation of the research pipeline.
This book offers guidance in all of the above topics as well as an extensive appendix of different resources for JHD families, including HDSA Centers of Excellence, legal resources, publications, and other HD organizations.
Available through the HDSA website here.
An update to the review of “Understanding Behavior in Huntington’s Disease” by Jane S. Paulsen (1999)
Length: 66 pages
This book, written for health care professionals caring for those affected by Huntington’s Disease(HD), is an update on Paulsen’s first book “Understanding Behavior in Huntington’s Disease” published in 1999. A review on the earlier edition of this text can be found here. Since the first publication, much has been learned about the physiological and behavioral aspects of HD. One major research update is on individuals at-risk for, but not yet diagnosed with, HD. In the last 15 years, studies of this group of pre-diagnosis (also referred to as preclinical or prodromal) individuals have resulted in a better understanding of how early stages of the disease affect behavior. More information about the stages of HD can be found here.
Within this book the authors provide an overview of HD, including genetics, neurodegeneration, and the stages of HD — from those at-risk to post-diagnostic stages. In Chapter 3, the authors detail common behavioral issues of those with HD. Topics covered include: communication, learning and memory, perception, executive functions, depression, suicide, anxiety, psychosis, sexuality, and sleep disturbances. For each behavioral concern, the authors provide an explanation of how the behavior may be altered in those with HD as well as hypothetical examples of how this behavior may manifest in different patients. In addition, the authors provide common medical treatments as well as an extensive list of behavioral strategies for caregivers to consider implementing at home. The book also provides considerations for other factors that could influence behavior, such as underlying medical conditions, fatigue, or grief. The authors close with a general 7-step approach to working with HD-related behavioral problems.
Overall, this book serves as a good resource for physicians making recommendations to caregivers and patients, as well as for caregivers, who are typically the first to identify behavioral issues. In addition, the focus on behavioral interventions, as opposed to medications, makes this a more readily usable resource for caregivers.
This publication is available through the Huntington’s Disease Society of America’s website here.
Courtesy of Amazon.com
Following her great success with Still Alice and Alzheimer’s disease, neuroscientist and author Lisa Genova attempts to accurately portray the disease experience of a Huntington’s disease (HD) family in her latest novel, Inside the O’Briens.
Unlike most media outlets, Genova goes to great lengths to understand the disease, both medically and socially, through interviews with HD researchers, clinicians and family members. Whether it’s describing the deterioration of the disease or explaining job discrimination, Genova succeeds in portraying the real HD disease experience.
Inside the O’Briens follows the story of Joe O’Brien, a middle age Boston police officer. He is married to Rosie O’Brien, with whom he has four children: Patrick, JJ, Meghan and Katie, all of whom still reside in the same triple-decker house in Charlestown, Massachusetts. Joe lives a content life and has very little problems within his family, despite a stressful job as an active duty police officer.
However, Joe and his family begin to notice changes in his behavior and movements. Joe is quick to anger and begins to loose his coordination. His wife, Rosie, convinces Joe to seek medical help. Sadly, he is diagnosed with Huntington’s disease. This news comes to a shock for Joe, whose family never acknowledged a history of the disease, until he re-considered the symptoms of his mother’s “alcoholism” many decades ago.
The story outlines the challenges Joe’s family must face as they not only navigate the disease progression of their father, but the fact that all four siblings have a 50% chance of inheriting the disease. The book is a challenging read, accurately portraying the unique problems HD families all over the world face.
Genetic testing, in addition to reproductive strategies, is one of the most controversial aspects of the HD experience. Despite the presence of a gene test, estimates show only 5-10% of all at-risk individuals choose to undergo predictive genetic testing (Oster et al., 2011 ). These statistics sometimes frustrate clinicians, leading to rash or coerced genetic testing decisions between the patient and doctor.
Rosie, Joe’s wife, accompanies Joe on a consultation with neurologist Dr. Hagler. Rosie notes the various movement symptoms Joe does not notice due to a lack of proprioception, or the ability to detect one’s body position. Dr. Hagler requests information regarding Joe’s family history and discovers that his mother was hospitalized for “alcoholism.” She also has Joe perform several neurological tests without explaining the reasoning behind these tests. Despite Joe’s insistence that he is just having a knee problem, Dr. Hagler suddenly diagnoses Joe with Huntington’s disease, but admits they should get an MRI and genetic testing to confirm her diagnosis (76-108).
Without any consent or transparency, Dr. Hagler diagnoses Joe with a devastating neurological disease with no counseling or explanation, causing great psychological stress to the family. Joe is furious that a medical professional could be so irresponsible in her prognosis:
“Huntington’s. It’s pure malarkey, and Joe won’t give it any stock. Police officers deal in facts, not speculation, and the fact is, this doctor threw out this big, scary medical word without having done any real medical tests, without knowing a damn thing. It was an offhand, irresponsible remark. It’s practically malpractice, to put a word like that out there, into their innocent heads, with no facts to back it up. It’s complete bullshit is what it is” (84).
Genova does an excellent job of highlighting the ways in which professionals can negatively impact a diagnosis experience. For families unaware of a history of Huntington’s disease, an abrupt clinical diagnosis with little explanation or consent can be harmful.
Furthermore, a diagnosis of Huntington’s disease can be devastating because of the implications it can have for younger generations. In the case of Joe’s family, his diagnosis means that his four children also must acknowledge they each have a 50% chance of inheriting the disease.
Genova highlights the tensions this statistic can cause among family members, especially when it comes to making the decision to test. In one section of the book, Genova creates a dialogue between the four siblings regarding their decision to test. The brothers, JJ and Patrick, are frustrated by the fact that they must undergo a long genetic testing process to find out if they have inherited the disease. Patrick refuses to get tested as he does not want to do any of the counseling.
JJ decides to test as his wife, Colleen, is pregnant with their first child. Meghan, one of the sisters, asks JJ if he and Colleen would have an abortion if he tested positive for the disease and so did the baby. [For more information on fetal testing or family planning in general, click here.] The stress is palpable. JJ doesn’t have an answer to his sister’s question.
The siblings discuss the fear that they’ve already started exhibiting symptoms. Meg, a ballet dancer, believes she’s messing up more in her routines. It is not unusual for those at risk to self-identify or diagnose based off behaviors that may or may not be related to Huntington’s disease. Her siblings try to reassure her that it is nothing.
At the end of the conversation, JJ and Meg decide to pursue testing, Patrick will not, and the youngest, Kate, is undecided.
Kate decides to pursue the genetic counseling process. She meets with Eric Clarkson, a genetic counselor. She does so after an upsetting neurological exam by Dr. Hagler, the same woman that analyzed Kate’s father’s movements. At the end of the exam, Dr. Hagler tells Kate that everything looks normal, leaving Kate with mixed emotions. She’s spent the last few weeks studying herself, trying to identify signs of the disease. Now she can finally stop. In Kate’s words: “That neuro exam was like surviving fifteen rounds in a boxing ring. She’s been declared the winner, but she still got knocked around” (162).
Eric takes over for Dr. Hagler to discuss genetic testing with Kate, asking her about the uncertainty surrounding her decision to test. Katie admits to Eric that she believes she has the gene because she looks like her dad’s mother. Eric reassures her that physical resemblance has nothing to do with HD inheritance. He uses this misconception as an opportunity to go over basic genetics, explaining DNA, chromosomes, and genes.
Additionally, Eric asks Kate to articulate what life would be like if she tested negative (“biggest relief ever”) and if she tested positive, along with her siblings testing positive. Kate says she “wouldn’t jump off the Tobin [bridge]” (168). Kate is getting increasingly uncomfortable with the intensity of the conversation. She grows increasingly impatient and tries to ascertain the reason for this “interrogation.”
Eric explains to her that he will not deny her the test. However, he says, “we want you to understand what you’re getting into and have the tools to deal with it. We feel responsibility for how you’re going to react” (171). He says that Kate can come back in two weeks to get the test or continue to visit with each other until she feels ready. He emphasizes that he will deliver her results to her in-person, and not over the telephone, a common best practice of genetic testing.
Overall, Eric Clarkson does an excellent job explaining the disease to Kate, as well as the emotional implications of genetic testing.
Family Members with HD^
Many children from Huntington’s disease families must reconcile the fact that they have watched a parent suffer from a long, debilitating illness. This experience can cause trauma and psychological stress, especially as many of these children must also face their own personal realities of the disease.
Joe is no exception:
“But while he’s been doing his best to avoid falling down the dark, muddy rabbit hole of Huntington’s disease, he has been thinking a lot about his mother. Joe stops turning the screwdriver and runs his index finger over the scar by the outside corner of his left eye…His mother threw a potato masher across the room…Joe likes to believe that the scar by his eye is the only thing he got from his mother, a single souvenir of her madness” (85).
The disease can often strip individuals of their identities as well:
“The woman in that bed would never be able to read or sing or smile at him again. The woman in that bed was nobody’s mother” (87).
Grappling with Huntington’s disease can be a taxing feat considering the fact that multiple generations often have to deal with its consequences simultaneously. This burden is particularly evident when Joe must tell his children that they all have a 50% chance of inheriting the disease, in addition to the risk it poses to any children they plan on having. As described on page 122, the four siblings have great difficulty comprehending the magnitude of the situation. For JJ and his wife Colleen, it is far too real, as they reveal that Colleen is pregnant.
As is revealed later in the text, JJ tests positive for the faulty gene, meaning his child is now also at-risk for the disease. He and Colleen decide to keep the baby, despite the risk. As stated on page 202, “Joe prays everyday that the baby is healthy.” Joe also acknowledges that once the baby is born, the child cannot be tested until he or she makes the decision to do so, which at minimum is 18 years away, meaning he may never know whether or not it passes on to the next generation.
Unemployment is perhaps one of the most difficult transitions for many HD patients living in their working prime. Joe, a police officer, must face this transition earlier than others due to the high intensity and dangers involved in his job. Before losing his position on the force, Joe is accused of directing traffic while drunk, a common misconception of individuals with HD. He had not yet revealed his diagnosis to anyone outside his closest circles. However, after several complaints and rumors, Joe must finally disclose his disease status to his boss. Joe must grapple with the fact that, at best, he may keep his job at a desk. Otherwise, his future on the force does not look promising (234).
Genova uses this crisis in Joe’s life to explain the Genetic Information Non-Discrimination Act (GINA). This piece of legislation “makes it illegal for employers to terminate an employee based on genetic information” (247). However, an employer retains the right to fire somebody if that individual poses a safety threat or cannot do his or her job effectively. This caveat means Joe cannot be protected by GINA, but perhaps this information can help other readers.
Suicidal ideation is one of the most pressing issues in the Huntington’s disease community. It is a difficult topic to discuss, but a matter that must be addressed in order to make progress and educate communities touched by the disease.
When Joe is accused of drunk policing, his co-worker mentions that “this time of year is brutal” (244). The community has seen three suicides in the month of January. Joe imagines the various ways these individuals may have killed themselves. The last one he imagines: “a cop eats his gun” (244). He then thinks this “last one is how he’d do it, if suicide were his plan.”
Joe spends several scenes of the book contemplating his death. Chapter 29 begins with the sentence, “The gun is still his plan.” Rosie dissuaded Joe from taking his own life before, but his ideation is still frequent. Joe finds himself obsessively checking his draw for the gun, just in case he decides he needs to use it. Katie, his youngest, is the one that has the most effective impact on Joe leaving his “perfect plan behind.”
The passage reads as follows:
“’We don’t know anyone else with HD. You’re the only example we have. We are going to learn how to live and die with HD from you, Dad’…
It’s the perfect plan. He’ll be teaching them the human thing to do, the victorious way out. The gun. He should check the gun” (273).
Through his conversation with Kate, Joe realizes the importance of his presence to his family. He decides that, personally, it would be better for him to not choose suicide.
While suicide and job loss often grab the headlines for HD communities, sometimes the everyday challenges are the hardest.
Joe describes his everyday encounter with strangers. Due to a lack of proprioception, or the ability to sense one’s body position, Joe can only perceive his movements “through the mirror of the guarded, unforgiving stares of strangers” (212). Otherwise, he cannot tell that his body is moving. Joe describes the feeling of having strangers stare at him, trying to pin him into categories like drunk, mentally impaired, harmless, violent, deranged. As Joe states, he is “horrifying, unacceptable, and then invisible” to these strangers.
Furthermore, Joe explains his symptoms by calling himself his own “stuntman.” With the combination of proprioception and anosognosia, he is unaware of the placement of his body. Not only does this cause him to move unexpectedly, but often with more force than intended. He also finds himself hard pressed to control extreme mood swings, often towards anger, which often makes him feel guilty as it can be extremely traumatizing for his family.
Joe also describes his challenges with the limited number of drugs on the market. While Tetrabenazine helps control his chorea, Joe must take less of it as it increases his suicidal ideation. The constant management of drugs to control for various symptoms of HD can be exhausting.
One of the greatest mechanisms for coping with the daily challenges with the disease is a support system. When Joe attends a baseball game with his friends, he must face the unforgiving glares of strangers bewildered by his movements. However, his friends and family are there to support him, melting away the attempts of others to judge him. As the Red Sox win the game, Joe “takes a moment, wanting to remember this, the joy of the win, the beers and pizza, the electric energy of the crowd, a night at Fenway with his best friends and his two sons. His seat ain’t empty yet. And tonight, he enjoyed every wicked awesome second of it” (330).
Lisa Genova provides readers with one of the most comprehensive looks into the lives of those affected by Huntington’s disease. She touches on issues like Juvenile Huntington’s disease, insurance, genetic testing, drugs, and more, all the while providing and engaging story for readers from all walks of life. Genova does an excellent job proving she did her research. Whether it was speaking with HD families, connecting with the Huntington’s Disease Society of America or grilling HD researchers, she makes every effort to accurately portray one potential disease experience at both the family and the individual level.
For Future Reading^
Oster, Emily, Ira Shoulson, and E. Dorsey. Optimal expectations and limited medical testing: evidence from Huntington disease. No. w17629. National Bureau of Economic Research, 2011.
Welcome to the Literature Corner!
Length: 359 pages
Summary: The Troubled Helix compiles research from across the scientific spectrum to give a thorough account of how human genetics influence people in the modern age.
Ferris Wheel is a fictional story about a girl, Kathryn, whose life is changed when she meets the new neighbors and their son, Carson.
Summary: “The Art of Aging” is a book that describes how to handle aging and death with grace, happiness, and productivity. Nuland first defines what it physically means to age, and then connects that definition to potential choices one could make to ease up some of the physical burdens in late life. The author proceeds to share the details from the lives of various elderly people who chose to make aging into an art, often circling this choice around continuing work, looking to realms of faith, and maintaining general positivity. Nuland ends the book with advice about staying healthy for longer and current research that focuses solely on extending the lives of the elderly
“The Art of Aging” is useful as a positive resource for those dealing with aging or terminal illness, such as people with HD or their caretakers. The book references real-life people who faced severe illness, death of loved ones, and general financial challenges in the light of growing older. Nuland especially focuses on ways to stay productive and joyful during one’s later years, as well as how to adjust to unavoidable changes in the body and mind. “The Art of Aging” serves as a good, gentle beginning for those, such as HD patients, who have to start thinking about end-of-life issues.
Summary: “The Official Patient’s Sourcebook on Huntington’s Disease” is a three-pronged guide to learning more about Huntington’s disease. It includes basic information about HD (what it is, how it is inherited, etc.), resources that contain more advanced HD information, and useful appendices with advice on how and where to research specific topics about HD (medications, nutrition, etc.). Each chapter has a helpful glossary of HD-related terms used in the chapter. This book is full of websites, book references, and tips for finding out the most about any subject related to Huntington’s disease, so it is a useful guide for any doctor, HD patient, or HD caregiver.
Length: 216 pages
Summary: “Omega-3 Oils” identifies the lack of particular nutrients in the American diet as a cause of many modern chronic diseases. The nutrients Rudin identifies include omega-3 fatty acids, fiber, and specific vitamins, minerals, and antioxidants. According to the author, a shortage of these nutritional basics in processed foods leads to skin problems, fatigue, heart and kidney disease, infertility, obesity, aging and poor mental health. Rudin explores how the deficiency of each nutrient could lead to various ailments in a study of 44 patients. He then recommends The Omega Program, which he designed to combat these modern illnesses using flaxseed oil, supplements, and exercise.
This book is a useful resource for HD patients and families already using omega-3 oils to combat some of the side effects of Huntington’s disease. “Omega-3 Oils” does not directly address Huntington’s disease or similar genetic neurodegenerative diseases, but it does give readers supplementary information about how omega-3 oils might work in the body.
Length: 69 pages
Summary: This handbook gives key information for families and nursing home staff that are taking care of patients with late-stage Huntington’s disease. It begins with a description of what HD looks like, particularly in late stages, and then focuses on important issues especially important for these patients. This includes communicating wants and needs, nutrition, difficulties swallowing, falling, cognitive changes, and other medical issues that are specific to advanced HD. The book takes on a caring, understanding tone and organizes the large quantity of information into lists, tables, and steps to follow. Short stories are included every few sections to demonstrate what actions to take in various situations. The end of the handbook contains contact information for organizations that lend support and sell assistive devices specific to Huntington’s disease.
Length: 326 pages
Summary: “The Agile Gene” uses the research of twelve major scientists to explore the nature – versus nurture – debate. This debate centers around whether our genes or our environment has a stronger effect in defining who people are physically and behaviorally, something that is extremely relevant in Huntington’s disease research. Ridley takes a moderate approach to this discussion. He begins by establishing that genes are not gods and that parenting only matters to the extent that it is not terrible. Individuality, the book claims, is established by a mix of aptitude and appetite reinforced by peers. Social policy is meant to account for the differences of individuality that do exist, he concludes, and free will exists even though we are strongly influenced by both our DNA and our surroundings. Ridley promotes repeatedly that nature works via nurture.
This book provides a modern outlook on how science and genetics play a role in developing our world. It could act as a useful supplementary resource for those who are curious about where scientific research is heading in medicine, gene therapy, and academia. “The Agile Gene” could be of interest to any HD patient or caregiver who wanted to know how the nature – versus – nurture debate impacts Huntington’s disease and other genetic diseases like it, especially given its modern and relevant perspective.
Length: 176 Pages
Summary: “Learning to Live with Huntington’s Disease” is a compilation by journalist Sandy Sulaiman’s family about what it’s like to live with HD in the family. It starts off with a chapter by Sulaiman describing what it was like to discover that she had HD and how the diagnosis changed the rest of her life. Her unaffected sister, Wendy, writes the next chapter and discusses her experience with “survivor’s guilt” for not having inherited the gene for Huntington’s disease. Sulaiman’s older son, Brom, and younger son, Danny, write the next two respective chapters of the family book. Both highlight how they cope with their mother’s symptoms, their family’s worries, and their own 50% risks of inheriting the HD gene. Chantel, Sulaiman’s daughter-in-law and Brom’s wife, talks about her decision to marry into a family with HD knowing that her husband has a 50% risk of inheriting the gene and their potential children carry a 50% risk if the father does have the gene. Sulaiman’s husband, Phil, pens one of the longer chapters of the book. He describes how HD impacted his marriage and his role as a caregiver, and gives advice from the perspective of a person who sees just how messy and devastating HD can be. Sulaiman ends the book with a chapter about her father, Brian, who gave her the HD gene.
This book gives a unique combination of perspectives of people who are directly and indirectly affected by having one person in the family with HD. The lengths and tones of each chapter vary, but overall every character gives advice, addresses common and uncommon questions, and personalizes HD. It is especially appropriate for HD patients and caregivers looking for shared experiences, as well as medical professionals and outsiders who want to learn more about this rare disease.
Length: 81 pages
Summary: This book is a comprehensive guide, issued by the HDSA, to ways in which physicians can help caregivers and families manage patients with Huntington’s disease. It begins with an overview of the disease and the genetics involved with HD, and then proceeds to discuss HD as a movement disorder, a cognitive disorder, and a psychiatric disorder. The guide also reviews miscellaneous activities like smoking, driving, and end-of-life issues.
“A Physician’s Guide to the Management of Huntington’s Disease” is primarily intended for doctors and caregivers, as it gives precise recommendations about medication dosages and treatment options. However, the way in which each section is broken down into tables, lists, and steps makes it a useful resource for HD patients and families who want summaries of what the standard physician would recommend in a variety of complicated situations at home.
Length: 118 pages
Summary: Written specifically for youths, “Gene Hunter” takes a close look at the childhood experiences of Nancy Wexler and how it impacted her contribution towards the discovery of the Huntington’s disease gene. The book begins with HD basics, including genetics, symptoms, and research, and ties those basics in with Nancy Wexler’s personal experiences with HD in her family and in her work. It then goes on to give a simple, but full, narrative of Wexler’s life, including many anecdotes to characterize Wexler and her family. Finally, Glimm focuses on how Wexler’s genetic research and ability to motivate talented scientists led to the discovery of the gene for Huntington’s disease. The book ends with a discussion of potential therapies for HD and how Wexler is still contributing to the HD community today.
“Gene Hunter” is a good resource for introducing juveniles to Huntington’s disease and leaders in the scientific community working on HD. It asks ethical questions about genetic testing, research priorities, and appropriate care for HD patients and gives insights about the importance of finding a cure. Glimm uses Wexler as an example of what it means to be an inspirational woman in science who carries the risk of having HD like so many others.
Length: 558 pages
Summary: “Huntington’s Disease” is a compilation of descriptions of many kinds of research being done in relation to Huntington’s disease. The book categorizes the sections into clinical aspects, genetics, neurobiology, molecular biology, and therapeutic aspects of HD, as well as having a special section on other polyglutamine diseases. Typical explanations of research findings include good introductory references, an abundance of charts, tables, and diagrams, and conclusions explaining why the hundreds of research ideas mentioned are relevant to the progress of finding potential treatments and cures for Huntington’s disease.
This book is useful as a tool for more advanced personal research by patients, families, caregivers, or even physicians for information on what the scientific community is looking into in terms of Huntington’s disease. It goes into immense detail about how this polyglutamine disease is different from others and why it is so tragically harmful in the brain and body. The organization of “Huntington’s Disease” is ideal for looking up specific questions about HD rather than acting as a guide to read in full in one or a few sittings. It is truly excellent for the curious scientific reader interested in HD.
Length: 46 pages
Summary: This book breaks down some of the more difficult behavioral issues associated with having Huntington’s disease and suggests several approaches to solving them. After describing how HD affects brain circuitry as the disease progresses, Paulsen connects problems such as apathy, impulse control, and irritability to the neurodegeneration she previously explains and to emotions and circumstances that could further influence behavior. Paulsen breaks down these approaches into steps or stages and frequently uses lists, definitions, and metaphors to clarify potentially complicated or upsetting situations that occur. The author also uses fictitious characters in hypothetical situations and examples throughout the book, demonstrating the implementation of methods she lists for understanding difficult behaviors. Overall,”Understanding Behaviors in Huntington’s Disease” is a useful resources for families and caregivers of HD patients, as well as doctors that desire to recommend appropriate advice about typical HD behaviors.
Length: 139 pages
Summary: This book provides a simple and thorough introduction to all aspects of Huntington’s disease. Topics that are discussed include the history of Huntington’s disease discoveries, patient organizations, and scientific research. The author also covers behavioral, neurological, and physical characteristics, the genetics of HD, and genetic counseling. Quarrell uses straightforward language, simple metaphors, and diagrams to explain all the basics of HD, making “Huntington’s Disease” a useful tool for patients or family members who need an easy, accurate overview of HD.
Length: 160 pages
Summary:In “The Test: Living in the Shadow of Huntington’s Disease” by Jean Barema, a successful journalist in France, tells the story of his chaotic emotional life before finally getting tested for the Huntington’s disease gene. At age 52, Barema faces the decline of his affected older brother and younger sister while considering whether or not to find out the truth about himself. He questions everything in his life that could be a potential symptom: depression, irritability, and similarities to the mother who could have passed along the abnormal gene to him. Barema almost drives away his wife, children, and family as he approaches his personal doomsday – April 4th, the day his test results arrive.
“The Test” focuses on what it means to be at risk for Huntington’s disease and how this differs from having the disease or caring for a loved one with the disease. Barema explores the rationality and irrationality of suicide if he were to receive a positive test result and pushes the boundaries of what actions are acceptable when death is potentially imminent. He questions what it means to have one’s brain destroyed from the inside-out and whether there really is a line between being disease-free and diseased with HD. This book’s importance lies in its examination of how not knowing one’s HD status can be life-changing all on its own, something that families and doctors seek to understand and HD patients usually remember all too well.
Length: 321 pages
In “Mapping Fate: A Memoir of Family, Risk, and Genetic
Research”, Alice Wexler reflects on her personal and academic experiences with Huntington’s disease
. Wexler and her sister, Nancy, watch as their mother slowly deteriorates after her HD diagnosis in her 50s, while they are confronted with their new at-risk
statuses. Then Nancy, motivated by HD’s constant presence in her life, joins forces with her impassioned father to organize scientists to find the gene
and potential therapies for HD. Wexler details the decades-long process to find the gene
, all while intertwining this research with her and Nancy’s struggles with reproductive decisions and, ultimately, whether or not to get tested once the HD gene
This book addresses a variety of questions that could apply to people at risk
for HD, family members of patients with HD, scientists, and academic scholars interested in the implications of HD. It explores what it means to be a woman at risk
for HD, especially in light of having potentially received the gene
maternally. The politics behind fundraising and researching are closely analyzed, as many often assume these two activities are fairly straightforward when closely connected to a serious disease. Wexler gives a firsthand account of the decline of a loved one with HD, evaluating her and her family’s rage, grief, and love as her mother’s death approaches. Most critically, this book repeatedly brings up the choices of whether or not to have children if one is at risk
and whether or not to get tested for the gene