Arvelige sygdomme

Marias liv falder fra hinanden, da hendes fireårige søn, William, bliver diagnosticeret med en sjælden genetisk sygdom. Efter en fejlslagen knoglemarvstransplantation mister William alle sine sansers brug og kommer til at ligge lænket til en respirator. Familien går i opløsning. Og Maria, der engang var livsglad pædagog og professionel håndboldspiller, ser sit vindende væsen visne ved siden af en hospitalsseng.WILLIAMS BEFRIELSE er en uafrystelig historie om en mors kamp. Først for at hendes dødssyge søn skal overleve. Men – som håbet svinder med årene, og omkostninger for kampen tegner sig – for at William skal blive befriet i døden.Marias gribende beretning er tragisk og ubærlig. Men den er også et modigt og livsbekræftende vidnesbyrd om en mor, der overkommer den største sorg.

"The Sickle Cell Anemia Mastery Bible: Your Blueprint for Complete Sickle Cell Anemia Management" is an indispensable guide for those navigating the complex landscape of sickle cell anemia. From unraveling the biology of the condition and understanding early symptoms to exploring diagnostic pathways and the psychological impact, this comprehensive book offers a holistic perspective. Personal stories of resilience, alongside diagnostic and medical assessments, provide a nuanced understanding. The book delves into both traditional and alternative approaches, including nutrition, herbal remedies, physical therapy, and stress reduction techniques.Readers will find insights into medical management, pain relief, blood transfusion protocols, and advancements in gene therapy. Navigating the emotional journey, building support systems, and celebrating milestones are integral components. The book covers lifestyle modifications, self-care, and daily routines, addressing travel considerations, emergency health plans, and environmental factors. Coping mechanisms, self-monitoring techniques, and dealing with discrimination are discussed, promoting emotional resilience. The book explores relationships, intimacy, and the psychological aspects of chronic illness, offering coping strategies and therapeutic options.With a focus on customizable management plans, the book guides readers through goal-setting, flexibility in plans, and coordinating care among specialists. It embraces technology and emergency protocols while providing a comprehensive plan for children and adolescents. The dietary aspect is covered extensively, emphasizing essential nutrients, anti-inflammatory foods, and success stories. Mental health receives dedicated attention, recognizing issues, therapy options, and support groups.Patient advocacy takes center stage, with discussions on patient rights, communication with healthcare providers, and navigating the healthcare system. The book extends its insights to childhood and adolescence, addressing pediatric care, educational support, and transitioning to adult care. Women's and men's health sections delve into specific considerations, promoting awareness and resilience.As it concludes, the book looks toward future horizons, exploring advances in research, genetic therapies, stem cell transplantation, clinical trials, global initiatives, and the role of technology in management. Patient advocacy and empowerment shine through, offering a vision for the future based on expert insights.

"The Duchenne Muscular Dystrophy Mastery Bible: Your Blueprint for Complete Duchenne Muscular Dystrophy Management" is a comprehensive guide offering support, insights, and a roadmap for individuals and families navigating the challenges of Duchenne Muscular Dystrophy (DMD). Delve into the genetic puzzle of DMD, understanding dystrophin, and recognizing early signs. Learn about medical management, including corticosteroid therapies, cardiac care, and respiratory support, as well as physical and occupational therapy approaches. Explore holistic perspectives with integrative medicine, acupuncture, herbal supplements, and mind-body practices. The book provides practical guidance for daily life, covering adaptive equipment, home modifications, education, and social inclusion. Address psychological and emotional wellness with coping strategies, mental health support, and resilience-building techniques. Empower yourself through creating a personalized DMD management plan, collaborating with healthcare providers, and incorporating holistic approaches. Advocacy and empowerment sections guide you in understanding your rights, navigating healthcare systems, and participating in research and trials. Explore the science of hope with breakthroughs in gene therapy, stem cell research, advances in muscle biology, and innovative drug discoveries. Understand the role of patient advocacy in research and the impact of technology on DMD. This book is a beacon of knowledge, support, and hope for anyone affected by DMD.

"What an incredibly insightful book that speaks from the hearts of a special population of individuals who have been diagnosed as adults with Fetal Alcohol Spectrum Disorders (FASD)... Patti Kasper has put together an outstanding book. She has been able to bring her own unique point of view to an extraordinarily complex subject in a way from which we can all benefit and learn." Kenneth Lyons Jones, MD, Distinguished Emeritus Professor, Department of Pediatrics University of California, San Diego La Jolla, CA As a foster and adoption social worker, Patricia Kasper wanted to understand why so many children in the foster care system fall between the cracks. A lifelong learner, she ultimately dove into the study of Fetal Alcohol Spectrum Disorders, or FASD, which affects 5% of the general population, but up to 70% of youth in foster care. Indeed, Patricia learned that 80% of youth with an FASD are not raised by their parents, and that 86% are either un- or mis-diagnosed. The training Patricia took was revolutionary, as not only did it explain why so many children and youth have been failed, as well as why foster families are so ill-prepared to meet their needs, but it also revealed to Patricia that she herself was impacted by prenatal exposure to alcohol. FASD, a physical disability with behavioral symptoms, is rarely diagnosed, even though it is the #1 preventable cause of developmental, learning and intellectual disabilities world-wide, affecting more people than Autism Spectrum, Cerebral Palsy, Spina Bifida and Downs Syndrome combined. No one outgrows FASD and services for adults living with FASD are even fewer than those available for children and youth. With a diagnostic rate of less than 1%, there are millions upon millions of adults who are unaware they've had a prenatal brain injury. No two people with FASD are impacted the same way, due to a complexity of factors. Sip by Sip shares with its readers 10 stories, the author's own and the other nine through a series of conversations the author has with other people living with FASD. This book is Patricia's attempt to reach other adults who may find answers to life's struggles by looking at their lives through the lens of FASD.

Whether it's you or a family member, receiving a diagnosis of Parkinson's disease can generate emotions of anger, frustration, sadness, and confusion-but you're not in this fight alone. This books giving you the tools to conquer those feelings of being overwhelmed and helping you to be better prepared for life post-diagnosis.In one of the most extensive, up-to-date Parkinson's disease books, you'll find resources for maintaining realistic optimism while living with Parkinson's disease. In This Book, You Will Discover:A comprehensive guide to understanding Parkinson's disease, including its symptoms, causes, and diagnosisEvidence-based strategies for managing Parkinson's diseaseTips for maintaining healthy relationships with family, friends, and caregivers, including strategies for effective communicationPractical tools and resources for managing Parkinson's disease and living their best lives.And lots moreParkinson's disease is a degenerative brain illness associated with aging that result in the breakdown of certain brain tissue. The most frequent side effects include tremors, balance problems, and slower movementsThis book will guide you on how you can cope and treat Parkinson disease.

Epigenetics in Human Disease, Third Edition examines the diseases and conditions on which we have advanced knowledge of epigenetic mechanisms, such as cancer, autoimmune disorders, aging, metabolic disorders, neurobiological disorders and cardiovascular disease. From molecular mechanisms and epigenetic technology to clinical translation of recent research, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics to therapeutic interventions for epigenetic-based disorders, with an emphasis throughout on understanding and application of key concepts in new research and clinical practice. Fully revised and up-to-date, this Third Edition discusses topics of current interest in epigenetic disease research, including stem cell epigenetic therapy, bioinformatic analysis of NGS data, epigenetic mechanisms of imprinting disorders, microRNA in cancer, epigenetic approaches to control obesity, epigenetics and airway disease, and epigenetics in cardiovascular disease. Further sections explore online epigenetic tools and datasets; early-life programming of epigenetics in age-related diseases; the epigenetics of addiction and suicide, and epigenetic approaches to regulating and preventing diabetes, cardiac disease, allergic disorders, Alzheimer's disease, respiratory diseases, and many other human maladies. In addition, each chapter now includes chapter summaries, definitions, and vibrant imagery and figures to reinforce understanding, as well as step-by-step methods and disease research case studies.

This book tells how to stay clear of both psoriasis or eczema and keep it under total control! The book describes the author's 20 year struggle with psoriasis and what was found and used to totally control it for over 30 years. The book describes in detail what was used to totally control the itching, the scaling and eliminate any outward signs of psoriasis. It describes what was found to be the most effective and consistent treatment for both psoriasis and eczema. All the current medications and treatments for both psoriasis and eczema are explained regarding their effects. The book is very relevant for anyone with either psoriasis or eczema who wants to keep their condition under complete control and no longer need to use any lotions, ointments or prescription treatments.

Drawing from the latest developments and approaches in Alzheimer's and dementia care, Forget Me Not has all the answers.

At some point in our lives, many of us will face the crisis of an unexpected illness. For parents, the fear, anxiety and confusion resulting from a cancer diagnosis can be particularly devastating. When A Parent Has Cancer is a book for families written from the heart of experience. A mother, physician, and cancer survivor, Dr Wendy Harpham offers clear, direct, and sympathetic advice for parents challenged with the task of raising normal, healthy children while they struggle with a potentially life-threatening disease. Dr Harpham lays the groundwork of her book with specific plans for helping children through the upheaval of a parent's diagnosis and treatment, remission and recovery, and if necessary, confronting the possibility of death. She emphasises the importance of being honest with children about the gravity of the illness, while assuring them that their basic needs will always be met. Included is Becky and the Worry Cup, an illustrated children's book that tells the story of a seven-year-old girl's experiences with her mother's cancer.