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Eternal on the Water by Joseph Monninger

51q4PJYobWL._SX331_BO1,204,203,200_ 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.

Public Perception
“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.

Genetic Testing
“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).

Consent
“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/).

Family Planning
“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/).

Suicide
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.

Conclusion:

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.

Resources:

http://hdsa.org/wp-content/uploads/2015/03/GeneticTesting-for-HD.pdf

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“The Juvenile HD Handbook: A Guide for Families and Caregivers” by Martha Nance, M.D.

Published: 2007

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.

CJE 7/6/2015

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“Understanding Behavior in Huntington’s Disease: A Guide for Professionals” by Arik C. Johnson and Jane S. Paulsen

An update to the review of “Understanding Behavior in Huntington’s Disease” by Jane S. Paulsen (1999)

Published: 2014

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.

CJE 6/30/2015

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Inside the O’Briens

 

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.

Description^

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^

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.

Employment^

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.

Suicide^

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.

Everyday Challenges^

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).

Conclusion^

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.

KP 2015

 

 

 

 

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Literature Corner: Table of Contents

Welcome to the Literature Corner!

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“The Art of Aging: A Doctor’s Prescription for Well-Being” by Sherwin B Nuland

Published: 2007

Pages: 302

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.

CMB 05/21/2013

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"The Official Patient’s Sourcebook on Huntington’s Disease: A Revised and Updated Directory for the Internet Age" edited by James N. Parker and Philip M. Parker

Published: 2002

Pages: 206

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.

CMB 05/21/2013

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“Omega-3 Oils: A Practical Guide” by Donald Rudin and Clara Felix

Published: 1996

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.

CMB 05/21/2013

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“A Caregiver’s Handbook for Advanced-Stage Huntington’s Disease” by Jim Pollard

Published: 1999

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.

CMB 05/21/2013

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“The Agile Gene: How Nature Turns on Nurture” by Matt Ridley

Published: 2003

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.

CMB 05/21/2013

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"Learning to Live with Huntington’s Disease: One Family’s Story" by Sandy Sulaiman

Published: 2007

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.

CMB 05/21/2013

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"A Physician's Guide to the Management of Huntington's Disease"

Published: 1999

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.

CMB 03/04/2013

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"Gene Hunter: The Story of Neuropsychologist Nancy Wexler" by Adele Glimm

Published: 2005

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.

CMB 03/04/2013

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"Huntington's Disease" edited by Gillian Bates, Peter Harper, and Lesley Jones

Published: 2002

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.

CMB 03/04/2013

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"Understanding Behavior in Huntington's Disease" by Jane S. Paulsen

Published: 1999

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.

CMB 02/26/2013

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"Huntington's Disease: The Facts" by Oliver Quarrell

Published: 1999

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.

CMB 02/26/2013

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"The Test" by Jean Barema

Published: 2005

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.

CMB 02/26/2013

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"Mapping Fate" by Alice Wexler

Published: 1995
Length: 321 pages
Summary: 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 is found.
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.
CMB 02/26/2013
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