Genetic Mistakes: Understanding and Living with Fatty Acid Oxidation Disorders

Rosemary Forrest and Nicole Baugh
University of Arizona/HiRISE, Tucson, AZ, USA

Series: Metabolic Diseases – Laboratory and Clinical Research
BISAC: MED027000

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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, organizations, books, and more to help them understand their disorders and live confident lives. (Imprint: Nova Biomedical)

Preface

Acknowledgments

Part I. Understanding the Science and Genetics of Fatty Acid Oxidation Disorders

Chapter 1. Metabolic and Fatty Acid Oxidation Disorders (FAODs)

Chapter 2. Genetics of Fatty Acid Oxidation Disorders

Chapter 3. Sudden Infant Death Syndrome (SIDS) or “Crib Death” and the Newborn Screen (NBS)

Chapter 4. FAODs in General

Chapter 5. Disorders of Transport/Carnitine Cycle Defects

Chapter 6. Beta Oxidation (â-Oxidation) Disorders

Chapter 7. Disorders of Mitochondrial Respiratory Chain Electron Transfer and Unspecified FAODs

Part II. AN FAOD in the Family

Chapter 8. Congratulations … Oh, Wait!

Chapter 9. The Elephant in the Room

Chapter 10. The Diagnosis

Chapter 11. What Now?

Chapter 12. Finding the New Normal

Chapter 13. Educating Others

Chapter 14. Help from the Trenches

Chapter 15. Facing Family-Planning

Chapter 16. As if Things Weren’t Complicated Enough!

Chapter 17. Having a Life

Chapter 18. Hope for the Future

Part III. Resources and References

Chapter 19. General Resources and References

About the Authors

Index

“Rosemary Forrest and Nicole Baugh have used both their professional and personal experiences to write a wonderful and lay-friendly book for families living with a Fatty acid Oxidation Disorder (FOD), as well as for medical professionals that may not be familiar with these rare metabolic disorders. They give ‘direction and hope’ and understanding to families that are new to their diagnosis and treatment which helps to calm many of the fears that accompany a genetic diagnosis, especially for a newborn. Their writing and organization of the book flows in a way that decreases the complexity of technical medical terms, processes, and research and helps families understand that having an FOD is NOT a death sentence. Yet, they also share how living with these disorders can impact not only the affected child or adult, but the entire family system at home, at school/work and when hospitalized. Every chapter provides valuable information for families and professionals as they begin their journey through diagnosis, treatment, and living their lives with an FOD. Their Resource section provides informational links so families do not feel so alone and gives ways to connect with online and/or face-to-face emotional and practical Support resources, as well as links to find more medical information or possible medical support and clinical trials for new drugs. This book will give families a way to ‘wrap their heads around’ FODs without totally overwhelming them. I highly recommend this book to all affected individuals and families with FOD and for new and seasoned medical professionals.” - Deb Lee Gould, MEd, Founder/Director of the FOD (Fatty Oxidation Disorders) Family Support Group

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Briefly, this will be most useful to primary level medical caregivers: doctors, nurses, emergency room personnel, neo-natal personnel, nutritionists, anyone with a patient who has one of these disorders or who might in the future have such a patient. It was written for the educated and/or highly motivated layperson who is either dealing with one of these disorders, or who has a family member who is.

Geneticists are NOT a good target audience as it was written for the layperson and purposely avoids the intricacies on which geneticists focus. They will find it elementary but may be willing to recommend it to families or primary-level physicians.

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