Download or read book An Ordinary Day written by Karen Haberberg and published by powerHouse Books. This book was released on 2017-10-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book THE STUDENT WITH A GENETIC DISORDER written by Diane M. Plumridge and published by Charles C Thomas Publisher. This book was released on 1993-01-01 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this book is to acquaint professionals who work with children who have a genetic disorder with the common physical characteristics, learning profiles, and health and psychosocial problems found in these conditions. The uniqueness and individual strengths and characteristics of each child are clearly recognized. The disorders chosen for discussion are those in which intervention can have a significant impact on the child's comfort and/or ultimate adult functioning. By having adequate information, educational, social, and therapy programs can be developed to fit the individual needs of the child. The text begins with a review of basic genetic principles and the general characteristics of a genetic syndrome. It gives general information that is appropriate to many conditions such as the elements of a barrier-free school, the role of therapists, and when to consider referral to a genetic clinic. Over forty specific genetic disorders are then individually described and specific medical, educational, therapy, and psychosocial issues for each are addressed. Also included are a glossary, resource directory, and other suggested readings.

Download or read book Handbook of Neurodevelopmental and Genetic Disorders in Children 2 e written by Sam Goldstein and published by Guilford Press. This book was released on 2010-10-19 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.

Download or read book Mercies in Disguise written by Gina Kolata and published by Macmillan + ORM. This book was released on 2017-03-21 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: "[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.

Download or read book The Family Gene written by Joselin Linder and published by HarperCollins. This book was released on 2017-03-14 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Handbook of Neurodevelopmental and Genetic Disorders in Children 2 e written by Sam Goldstein and published by Guilford Press. This book was released on 2010-10-19 with total page 616 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.

Download or read book Preventive Management for Children with Genetic Conditions written by Golder Wilson and published by Cambridge University Press. This book was released on 2006 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides health professionals with a structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.

Download or read book Genetic Disorders of the Indian Subcontinent written by Dhavendra Kumar and published by Springer Science & Business Media. This book was released on 2012-09-15 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.

Download or read book A Handbook of Clinical Genetics written by J. S. Fitzsimmons and published by Butterworth-Heinemann. This book was released on 2013-10-22 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.

Download or read book Signs and Symptoms of Genetic Conditions written by Louanne Hudgins and published by Oxford University Press. This book was released on 2014-05-30 with total page 561 pages. Available in PDF, EPUB and Kindle. Book excerpt: Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Download or read book OBSTETRICS written by and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Rare Like Us written by Taylor Kane and published by Bookbaby. This book was released on 2019-09-02 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Parents and Families of Students With Special Needs written by Vicki A. McGinley and published by SAGE Publications. This book was released on 2017-01-05 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: Parents and Families of Students With Special Needs: Collaborating Across the Age Span teaches students the skills they need to effectively collaborate with parents and families to ensure a child's success in the classroom. Authors Vicki A. McGinley and Melina Alexander’s text takes a lifespan approach with a special emphasis on the critical transition points in a child’s life. Information is provided on what can be seen at each stage of an individual with disabilities’ development, and addresses concerns and needs that families may have during these unique phases of growth. Chapters written by professors and professionals who are also parents of students with special needs bring a diverse range of voices into the narrative. The authors provide an in-depth discussion of how parents and families are affected by particular disabilities, family system theory, the laws that affect individuals with disabilities, and assessments for individuals with disabilities.

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Download or read book Genes and Surroundings Teacher Guide written by Biological Sciences Curriculum Study and published by Kendall Hunt. This book was released on 2000 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Neurologic Interventions for Physical Therapy E Book written by Suzanne Tink Martin and published by Elsevier Health Sciences. This book was released on 2020-05-05 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: - UPDATED! Best evidence for interventions; clear, concise tables; graphics and pictures; and current literature engage you in the spectrum of neurologic conditions and interventions. - NEW! Autism Spectrum Disorder chapter covers clinical features, diagnosis, and intervention, with a special focus on using play and aquatics, to support the integral role of physical therapy in working with children and families with autism. - NEW! Common threads throughout the Children section focus on motor competence as a driving force in a child's cognitive and language development and highlight how meaningful, fun activities with family and friends encourage children with disabilities to participate. - UPDATED! Neuroanatomy chapter provides a more comprehensive review on nervous system structures and their contributions to patient function and recovery after an injury or neurologic condition. - UPDATED! Adult chapters feature updated information on medical and pharmacological management. - NEW! The Core Set of Outcome Measures for Adults with Neurologic Conditions assists you in measuring common outcomes in the examination and evaluation of patients. - NEW! Emphasis on the evidence for locomotor training, dual-task training, and high intensity gait training are included in the intervention sections.