Rare Like Us
Rare Like Us

Author: Taylor Kane

Publisher: Bookbaby

Published: 2019-09-02

Total Pages: 0

ISBN-13: 9781543978810

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Taylor Kane was a daddy's girl from the moment she was born, smiling and cooing whenever her father was around and refusing to sleep until he held her in his arms. But shortly after she turned three years old, the unthinkable happened. Her father was diagnosed with a rare, genetic disease for which there was no cure. It wasn't long before he began to experience a number of bizarre and frightening symptoms, and young Taylor watched helplessly as the disease ravaged his body and mind, transforming him into a shell of the father she once knew: a man unable to walk, talk, swallow or understand what was going on around him. A man who no longer recognized her.Fast forward five years. Her beloved father now gone, nine-year-old Taylor is dealt another devastating blow when she learns that she is a genetic carrier of the disease that took her father's life. Not only will her future children have a fifty percent chance of inheriting the disease, she, too, faces the risk of developing symptoms of her own in the future. In Rare Like Us, Taylor, now a twenty-one-year-old college student, shares the invaluable lessons she learned growing up in a family plagued by a genetic disease so rare that most doctors have never seen it, much less heard of it. She recounts with raw honesty how she managed to conquer her childhood demons and come to terms with her grief and loss; how she transformed her pain into passion and purpose; and how she continues to strive to honor her father's legacy by living her life in a way that would make him proud. This compelling memoir of a young woman's resilience and determination will captivate and inspire not only those who have experienced the isolation and despair that comes with having a rare disease, but anyone who has struggled to find the silver lining in heartbreak or tragedy, or who is searching for hope in the face of an uncertain future.

Raising a Rare Girl
Raising a Rare Girl

Author: Heather Lanier

Publisher: Penguin

Published: 2021-07-06

Total Pages: 321

ISBN-13: 0525559655

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“A remarkable book . . . I found myself thinking that all expectant and new parents should read it.” —Michelle Slater A New York Times Book Review Editors' Choice In Raising a Rare Girl, Lanier explores how to defy the tyranny of normal and embrace parenthood as a spiritual practice that breaks us open in the best of ways. Like many women of her generation, when Heather Lanier was expecting her first child she did everything by the book in the hope that she could create a SuperBaby, a supremely healthy human destined for a high-achieving future. But her daughter Fiona challenged all of Lanier’s preconceptions. Born with an ultra-rare syndrome known as Wolf-Hirschhorn, Fiona received a daunting prognosis: she would experience significant developmental delays and might not reach her second birthday. The diagnosis obliterated Lanier’s perfectionist tendencies, along with her most closely held beliefs about certainty, vulnerability, God, and love. With tiny bits of mozzarella cheese, a walker rolled to library story time, a talking iPad app, and a whole lot of pop and reggae, mother and daughter spend their days doing whatever it takes to give Fiona nourishment, movement, and language. Loving Fiona opens Lanier up to new understandings of what it means to be human, what it takes to be a mother, and above all, the aching joy and wonder that come from embracing the unique life of her rare girl.

An Ordinary Day
An Ordinary Day

Author: Karen Haberberg

Publisher: powerHouse Books

Published: 2017-10-24

Total Pages: 0

ISBN-13: 9781576878613

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An Ordinary Day is a documentation of the personal lives of courageous kids who have rare genetic conditions and their families who love and support them at all cost. 1 in 10 Americans are living with a rare genetic condition. The conditions that rule the lives of these families are often overlooked by society, but for millions of people it is a matter of foremost priority. This book sheds an important and compassionate light on these existences. Life often presents challenges that seem insurmountable. Children are not exempt from this, but often through their innocence and will we can find inspiration and hope. An Ordinary Day displays unforgettable photographs set against intimate conversations, documenting the lives of 27 children living with rare genetic conditions. Readers will fall in love with these children, share in their struggles and victories, and celebrate the life-affirming spirit captured in every image. The book invites us to connect with kids like Ethan, a nonverbal 7-year-old who learns to sign to communicate his needs, 5-year-old Madison who has taken her first steps after years of crawling, and Jonathan, a 9-year-old boy who finally learns to eat with a spoon after many failed trials. Tasks often taken for granted, are profound triumphs for children afflicted with rare genetic conditions. The every day moments captured in An Ordinary Day inspire awareness and empathy, while highlighting the commonalities between families with rare genetic conditions, and more deeply between us all. Poignant and revelatory, An Ordinary Day illuminates what it means to be a family.

Mercies in Disguise
Mercies in Disguise

Author: Gina Kolata

Publisher: Macmillan + ORM

Published: 2017-03-21

Total Pages: 217

ISBN-13: 1250123992

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"[Kolata] is a gifted storyteller. Her account of the Baxleys... is both engrossing and distressing... Kolata's book raises crucial questions about knowledge that can be both vital and fatal, both pallative and dangerous." —Andrew Solomon, The New York Review of Books New York Times science reporter Gina Kolata follows a family through genetic illness and one courageous daughter who decides her fate shall no longer be decided by a genetic flaw. The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested—at least, not now. But she had to find out. If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible? In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution—not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma—fertility specialists had created a way to spare the children through an expensive process. A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman—Amanda Baxley—who faced the future head on, determined to find a way to disrupt her family’s destiny.

Genomics of Rare Diseases
Genomics of Rare Diseases

Author: Claudia Gonzaga-Jauregui

Publisher: Academic Press

Published: 2021-06-12

Total Pages: 318

ISBN-13: 0128204362

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Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Extraordinary! A Book for Children with Rare Diseases (Mandarin)
Extraordinary! A Book for Children with Rare Diseases (Mandarin)

Author: Evren And Kara Ayik

Publisher: Kara Ayik

Published: 2022-03-03

Total Pages: 0

ISBN-13: 9781736034439

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是什么让罕见病儿童非同寻常？ 聆听罕见病儿童埃夫伦自我成长的心路历程，探索问题答案！ 本书由母子联手创作，基于罕见病患者面临的挑战与机遇，就身份、包容与自我认知展开适合孩子的讨论。书中的经验全部是小作者作为超罕见病患者一路长大的亲身经历，旨在为小读者理解个人身份和罕见病对个人身份的正面影响提供指南。家庭成员和护理人员也可以积极参与孩子的探索过程，根据孩子的成长需求制定读书计划。 本书插图由获奖童书插画家伊恩-戴尔绘制。《非同寻常的你！》旨在通过其由衷的文字和敏感又真实的插画鼓舞、激励所有患有罕见病的孩子活出最美好的一生。 What makes a child with a rare disease extraordinary? Explore the answer to this question while sharing a conversation with Evren about what he has learned while growing up with his own rare disease. Written collaboratively by mother and son, this book opens up a child-friendly discussion about identity, inclusion, and self-concept in light of the challenges and silver linings of living with a rare disease. The gentle lessons draw on the co-author's first-hand experience of growing up with an ultra-rare disease and offer young readers a framework for understanding personal identity and how their rare diseases can help shape it in positive ways. Family members and caregivers are invited to share in this conversation and to customize the reading according to each young reader's developmental needs. Accompanied by sensitive yet realistic illustrations created by award-winning artist and children's book illustrator Ian Dale, the heartfelt messages introduced in Extraordinary! are intended to uplift and encourage any children living with rare diseases to live their very best lives.

Rare Breed
Rare Breed

Author: Sunny Bonnell

Publisher: HarperCollins

Published: 2019-09-03

Total Pages: 298

ISBN-13: 0062856944

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An unconventional business book for the rebels and misfits—the Rare Breeds—who don’t fit the traditional mold, offering an approach that’s anything but business as usual. “Brazen rant!” -- Seth Godin, New York Times bestselling author of This is Marketing and What to Do When It’s Your Turn In every job you’ve ever had, you’ve been judged, labeled, and made to feel like an outsider. Defiant. Dangerous. Different. A real pain-in-the-ass.The message? To be successful, you’ve got to fundamentally change. But what if -- instead of conforming -- you learned how to punch society’s codes in the nose, run like a hooligan through the corridors of entrenched power, and succeed -- not by grinding down your prickly parts, but by going all-in on who you really are? “A guide for strategic rebellion.” -- Mark Levy, founder of Levy Innovation and creator of Your Big Sexy Idea® Meet Sunny Bonnell and Ashleigh Hansberger, award-winning global brand consultants, founders of Motto, and authors of Rare Breed: A Guide to Success for the Defiant, Dangerous, and Different. In this book, you’ll come face-to-face with seven controversial virtues that are typically seen as ladder-burning, career-ending personality traits that – convention says -- keep mavericks, oddballs, and visionaries like you from getting along, getting buy-in, and getting ahead. “A beautiful reminder that you are not alone.” -- Charlamagne Tha God, New York Times bestselling author of Black Privilege Sunny and Ashleigh provide singular insight into how you can flip the script and turn your so-called “vices” into your virtues, transforming your most “undesirable” flaws into the high-octane fuel of your success. In a world that wants to own you, you’ll finally learn how to own yourself, through embracing all your parts – not just the pretty ones. College dropouts and social misfits Sunny and Ashleigh provide front-row seats to their own counterintuitive rise from broke-ass outsiders to brand consultants for iconic brands. Success, they show you, is no longer the sole purview of the Harvard MBA graduate. Your ticket to ride resides within the side of you that’s disorderly, independent, and rogue. Deep down, you’ve always been the kid to point out when the emperor has no clothes. Yet, time and time again you’ve been faced with the consequences of deviating from social expectations. This is a new conversation for a new era. What would happen if, starting today, you walked away from the sheeple? What could you build?

The Family Gene
The Family Gene

Author: Joselin Linder

Publisher: HarperCollins

Published: 2017-03-14

Total Pages: 245

ISBN-13: 0062378929

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A riveting medical mystery about a young woman’s quest to uncover the truth about her likely fatal genetic disorder that opens a window onto the exploding field of genomic medicine When Joselin Linder was in her twenties her legs suddenly started to swell. After years of misdiagnoses, doctors discovered a deadly blockage in her liver. Struggling to find an explanation for her unusual condition, Joselin compared the medical chart of her father—who had died from a mysterious disease, ten years prior—with that of an uncle who had died under similarly strange circumstances. Delving further into the past, she discovered that her great-grandmother had displayed symptoms similar to hers before her death. Clearly, this was more than a fluke. Setting out to build a more complete picture of the illness that haunted her family, Joselin approached Dr. Christine Seidman, the head of a group of world-class genetic researchers at Harvard Medical School, for help. Dr. Seidman had been working on her family’s case for twenty years and had finally confirmed that fourteen of Joselin’s relatives carried something called a private mutation—meaning that they were the first known people to experience the baffling symptoms of a brand new genetic mutation. Here, Joselin tells the story of their gene: the lives it claimed and the future of genomic medicine with the potential to save those that remain. Digging into family records and medical history, conducting interviews with relatives and friends, and reflecting on her own experiences with the Harvard doctor, Joselin pieces together the lineage of this deadly gene to write a gripping and unforgettable exploration of family, history, and love. A compelling chronicle of survival and perseverance, The Family Gene is an important story of a young woman reckoning with her father’s death, her own mortality, and her ethical obligations to herself and those closest to her.

Used and Rare
Used and Rare

Author: Lawrence Goldstone

Publisher: St. Martin's Press

Published: 2010-04-01

Total Pages: 222

ISBN-13: 0312207492

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Journey into the world of book collecting with the Goldstones-rediscover the joy of reading, laugh, and fall in love with books all over again. The idea that books had stories associated with them that had nothing to do with the stories inside them was new to us. We had always valued the history, the world of ideas contained between the covers of a book or, as in the case of The Night Visitor, some special personal significance. Now, for the first time, we began to appreciate that there was a history and a world of ideas embodied by the books themselves. Part travel story, part love story, and part memoir, Lawrence and Nancy Goldstone's Used and Rare provides a delightful love letter to book lovers everywhere.