Genetic Mistakes

This book tackles a complex subject with both science and the heart. A diagnosis of any serious disease is life-altering and frightening. At such times, patients and their families look to their doctors for answers and treatment. Support groups help the newly diagnosed face their challenges and their experiences, removing feelings of isolation. However, when the diagnosis is a rare disorder, especially when diagnosed in an infant, none of that may follow. Genetic Mistakes is about one class of such disorders. These metabolic mistakes strike nearly every cell in the body, reducing energy and threatening a myriad of potential problems from muscle pain and neurological issues to coma and even death. Known as FAODs, or FODs, they present complex problems with no established therapies except dietary restrictions and supplements. Genetic Mistakes provides those affected by FAODs -- including patients, parents, and primary medical personnel -- with accessible, basic information. While it is not meant to take the place of medical care or medical references, it does offer both layman and primary caregivers a quick link to both current knowledge about FAODs and insight into those who must live with them. Divided into three sections, Genetic Mistakes takes on the science and genetics of FAODs, explaining them in a plain and unemotional, yet sensitive language. The first section deals with understanding FAODs. It relies heavily on both recent and historic scientific studies and will lead the reader to see that while there is no cure, there is hope. It explains how the disorders are inherited, how they affect the body, and how patients can help themselves by understanding both the potential effects of their disorders and how their own behavior might influence it. It teases out the individual FAODs and gives the information most desired by those affected: What tests might I need? What symptoms are common? How severe is this? The second section in Genetic Mistakes addresses the issues of learning to live with FAODs. Whether people are raising a child with one, or must cope with a later-onset FAOD themselves, these pages hold the stories, tips, and wisdom of those who have gone before. It also provides some insight into the research that may provide answers in the future. The final section of Genetic Mistakes is meant as a springboard for readers, providing them with both the references consulted for the book as well as other useful websites, organisations, books, and more to help them understand their disorders and live confident lives.