In-Between Years: Life After a Positive Huntington's Disease Test

In-Between Years: Life After a Positive Huntington's Disease Test

Author: Steven Beatty

Publisher: Library and Archives Canada

Published: 2018-04-14

Total Pages: 116

ISBN-13: 9781775317807

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All proceeds from the sale of this book are going to the Huntington Society of Canada for research and family support services! ---- This book is for those of us going through the "in-between years": the years following our HD genetic testing, but before the symptoms of the illness have begun to take hold. The years when we may struggle with this look into the crystal ball we've been given, for whatever reasons are personal to us. The years when we symptom-hunt and worry about every forgotten purse and each trip and stumble. The years when we watch and care for other Huntington's disease affected loved ones and wonder, how long until it's our turn. ---- Excerpt from the book: "It's not the result we were hoping for." Those eight little words echoed in my head like a Mack Truck rolling through a tunnel. A Mack Truck in the form of a telephone call from a Genetic Counsellor at my local hospital. "What, me?", was my gasped response. "Yes," she replied, "I'm sorry." I sat there in total stunned silence and started to think about all the consequences related to what she had just told me. What this news would mean for my family and me, possibly for generations to come. That was the moment my life completely changed. Changed in pretty much almost every conceivable way. How I looked to the future. How I reflected on the past. How I coped with the present. It changed what I found to be important and what I saw not even to be worth my time. It was the day I found out I was positive for the gene mutation that's responsible for Huntington's disease. The disease that I've heard some resources refer to as "one of the worst diseases you can get" and "it's like having Alzheimer's, ALS and Parkinson's disease all at the same time!" Where was I to go from there? What was I supposed to do? How could I cope with the knowledge that, unless a sufficient treatment came along soon, this disease was going to kill me in the not too distant future? I had no idea what to do next, and I felt utterly alone. ---- Chapters in this book include: 1. Steve's Huntington's Disease Story 2. What Is Huntington's Disease? 3. What Does My CAG Number Tell Me? 4. Becoming Involved with Huntington's Disease Associations 5. Your Health Care Team 6. Participating in Research 7. Symptom Seeking 8. Fear 9. When Do I Tell People About My Huntington's Disease? 10. Anger 11. Making Babies 12. Staying Positive 13. Exercise 14. Caring 15. Guilt 16. Journaling 17. Planning Ahead 18. Following the Latest Developments in Huntington's Disease News 19. Is Huntington's Disease Genetic Testing Even Worth the Trouble? 20. When Symptoms Start 21. I Look Forward to The Day When There Won't Be A Need for This Book 22. Calls to Action ---- What is Huntington's Disease?: Huntington's disease is a neurodegenerative disease that affects parts of the brain and leads to behavioural, cognitive and movement disorder symptoms. HD is caused by a mutation in a specific gene, now known as the Huntington gene. Huntington's disease is tragic in that it affects people in their prime. Symptoms often begin between the ages of 30- to 50-years-old. Currently, there is no cure for HD and once those affected become symptomatic, death usually occurs in 10-15 years. ---- About the author: Steven Beatty is part of a Huntington's disease family himself and received a positive result on his HD predictive genetic testing in 2015. Since that time, he has developed a passion directed at advocating for the Huntington's disease community. ---- The Huntington Society of Canada is a not-for-profit charitable organization which raises funds to deliver individual and group counselling service to support individuals and families living with Huntington disease (HD) and to fund medical research to delay or stop the progression of the disease


Can You Help Me?

Can You Help Me?

Author: Thomas D. Bird

Publisher:

Published: 2019

Total Pages: 289

ISBN-13: 0190684224

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Can You Help Me?: Living in the Turbulent World of Huntington Disease shares the surprising, insightful, challenging, and even encouraging stories of patients and their families who live with Huntington Disease. Having seen patients for more than 40 years, Dr Thomas Bird, a pioneer neurogeneticist, adds a human touch to this genetic brain disease that devastates persons during mid-life when they can least afford it. With a brief history of Huntington Disease and the occasional scientific detail, the true heart of the book is the human experience of the disorder: � The man who cannot stay out of prison because he is addicted to being a burglar. � Another man shoots and kills his roommate while watching television and cannot explain why he did it. � The woman with Huntington Disease copes with her depression by using Texas line dancing. � A twelve year old girl with juvenile Huntington Disease who can barely walk and talk, but her classmates rally around with touching and heartfelt support. � And the 72 year old man with late onset Huntington Disease and severe depression is made worse by ECT, but improved (for a while) with Transcranial Magnetic Stimulation. These are just some of the compelling stories of people of all ages and in all walks of life who feel trapped by a progressive degenerative brain disease from which there is no escape.


Watching Their Dance

Watching Their Dance

Author: Therese Crutcher-Marin

Publisher: Norcal Publishing Company

Published: 2017-03-22

Total Pages: 312

ISBN-13: 9780998442204

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Therese Crutcher is not a risk taker. Through meticulous planning, she eliminates as much uncertainty from her life as she can. Yet during her senior year of college, blithely planning to marry her beloved John Marin, she is suddenly thrown into turmoil when John's sisters announce they finally know what killed their mother, Huntington's disease. John and his three older sisters have a fifty-percent chance of inheriting Huntington's, which slowly kills the brain cells that affect movement and cognition. John says, "You never know what will happen in life," but his at-risk status shakes Therese to the core. How can she live with such uncertainty? Eventually, Therese takes the biggest gamble of her life and marries John. All four Marins choose to ignore what they cannot change; and in the early years, John and his sisters--a big part of Therese's life-- remain healthy, fun-loving, and as close as ever. When she observes symptoms in Lora, the oldest sister, Therese fears that Huntington's has found her. And when Marcia is diagnosed with the disease, Therese--with two small children, a career, and a husband now in the prime age range to show symptoms--struggles against the demons that feed her fear.When Marcia's symptoms worsen, Therese lovingly oversees her care. Several years later, Cindy, the youngest, also develops Huntington's, and Therese does the same, feeling that managing the care of these loved ones is the greatest gift she can give them.Thus unfolds a life filled with unpredictability, tough choices, and pain, and yet full of love, good times, and great joy. Therese comes to realize that the uncertainty she willingly took on has opened her heart to love more deeply; that acknowledging her world could change overnight has made her life richer. She has learned to overlook shortcomings and to compromise, to let go of anger, to find joy in the simple things. And though John's sisters leave this world far too soon, the Marin siblings, she realizes, have taught her about embracing life, forgiveness, and unconditional love.


Assessing Genetic Risks

Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

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Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.


Genetic Twists of Fate

Genetic Twists of Fate

Author: Stanley Fields

Publisher: MIT Press

Published: 2010-09-24

Total Pages: 235

ISBN-13: 0262289008

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How tiny variations in our personal DNA can determine how we look, how we behave, how we get sick, and how we get well. News stories report almost daily on the remarkable progress scientists are making in unraveling the genetic basis of disease and behavior. Meanwhile, new technologies are rapidly reducing the cost of reading someone's personal DNA (all six billion letters of it). Within the next ten years, hospitals may present parents with their newborn's complete DNA code along with her footprints and APGAR score. In Genetic Twists of Fate, distinguished geneticists Stanley Fields and Mark Johnston help us make sense of the genetic revolution that is upon us. Fields and Johnston tell real life stories that hinge on the inheritance of one tiny change rather than another in an individual's DNA: a mother wrongly accused of poisoning her young son when the true killer was a genetic disorder; the screen siren who could no longer remember her lines because of Alzheimer's disease; and the president who was treated with rat poison to prevent another heart attack. In an engaging and accessible style, Fields and Johnston explain what our personal DNA code is, how a few differences in its long list of DNA letters makes each of us unique, and how that code influences our appearance, our behavior, and our risk for such common diseases as diabetes or cancer.


Fade into the Bright

Fade into the Bright

Author: Jessica Koosed Etting

Publisher: Delacorte Press

Published: 2021-04-27

Total Pages: 338

ISBN-13: 0593174917

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Five Feet Apart meets Tell Me Three Things in this YA contemporary novel about two sisters, one summer, and a diagnosis that changes everything. Abby needs to escape a life that she no longer recognizes as her own. Her old life--the one where she was a high school volleyball star with a textbook-perfect future--has been ripped away. Abby and her sister, Brooke, have received a letter from their estranged dad informing them he has Huntington's disease, a fatal, degenerative disorder that you wouldn't wish on your worst enemy. And when the sisters agree to genetic testing, one of them tests positive. Fleeing to Catalina Island for the summer, Abby is relieved to be in a place where no one knows her tragic history. But when she meets aspiring documentary filmmaker Ben--tall, outdoorsy, easygoing, with eyes that don't miss a thing--she's thrown off her game. Ben's the kind of guy who loves to figure out people's stories. What if he learns hers?


Am I My Genes?

Am I My Genes?

Author: Robert L. Klitzman M.D.

Publisher: Oxford University Press

Published: 2012-03-01

Total Pages: 376

ISBN-13: 0190207671

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In the fifty years since DNA was discovered, we have seen extraordinary advances. For example, genetic testing has rapidly improved the diagnosis and treatment of diseases such as Huntington's, cystic fibrosis, breast cancer, and Alzheimer's. But with this new knowledge comes difficult decisions for countless people, who wrestle with fear about whether to get tested, and if so, what to do with the results. Am I My Genes? shows how real individuals have confronted these issues in their daily lives. Robert L. Klitzman interviewed 64 people who faced Huntington's Disease, breast and ovarian cancer, or Alpha-1 antitrypsin deficiency. The book describes--often in the person's own words--how each has wrestled with the vast implications that genetics has for their lives and their families. Klitzman shows how these men and women struggle to make sense of their predicament and its causes. They confront a series of quandaries--whether to be tested; whether to disclose their genetic risks to parents, siblings, spouses, offspring, friends, doctors, insurers, employers, and schools; how to view and understand themselves and their genetics; what treatments, if any, to pursue; whether to have children, adopt, screen embryos, or abort; and whether to participate in genetic communities. In the face of these uncertainties, they have tried to understand these tests and probabilities, avoid fatalism, anxiety, despair, and discrimination, and find hope, meaning, and a sense of wholeness. Forced to wander through a wilderness of shifting sands, they chart paths that many others may eventually follow. Klitzman captures here the voices of pioneers, some of the first to encounter the personal dilemmas introduced by modern genetics. Am I My Genes? is an invaluable account of their experience, one that will become all the more common in the coming years. "An extraordinary exploration...probing the many roles and implications of genetics in our lives today.... Filled with astonishing insights, this riveting book is vital reading for us all." --Paula Zahn "Klitzman lucidly discusses the moral and psychological complexities that come in the wake of genetic testing.... An important book for anyone who has the genes for pathology, which is all of us, and I recommend it highly." --Kay Redfield Jamison, author of An Unquiet Mind "An illuminating voyage through the medical, familial and existential quandaries faced by those of us at genetic risk." --Thomas H. Murray, President and CEO, The Hastings Center


The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy

The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy

Author: Udo Rüb

Publisher: Springer

Published: 2015-09-29

Total Pages: 154

ISBN-13: 331919285X

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This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.


Learning to Live with Huntington's Disease

Learning to Live with Huntington's Disease

Author: Sandy Sulaiman

Publisher: Jessica Kingsley Publishers

Published: 2007-04-15

Total Pages: 178

ISBN-13: 1846426308

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Huntington's Disease (HD) is a hereditary illness passed on via a defective gene. There is a fifty per cent chance of inheriting it from a parent and there is yet no cure. Learning to Live with Huntington's Disease is one family's poignant story of coping with the symptoms, the diagnosis and the effects of HD. This book presents the struggles and strengths of the whole family when one member loses their future to a terminal illness. Told by the sufferer and other significant family members, the individuals describe the burden of watching yourself and others for symptoms of HD, including involuntary movements, depression, clumsiness, weight loss, slurred speech and sometimes violent tendencies. The family recounts the challenge to remain united and describes how they approached issues such as whether or not to be tested for HD, how much information to disclose to relatives, whether to have children or not and guilt if one sibling inherits the illness and one does not. Both honest and positive, the author stresses the importance of re-inventing yourself and your present, prioritising relationships and retaining a sense of humour.