Description
Book SynopsisThe Carriers investigates a common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how fragile X syndrome afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.
Trade ReviewThe Carriers offers a lucid and insightful look at the many consequences of an expansion-type mutation of the fragile X gene. A remarkable quality of this book is the way Anne Skomorowsky emphasizes the humanity of those experiencing its consequences, because of the gene itself and the lack of understanding on the part of caregivers. A must-read for both clinicians and families. -- Paul J. Hagerman, distinguished professor, UC Davis Mind Institute
This is the book I wish I’d had when my bloodwork came back mid-pregnancy, and the book I’m glad my daughter will have. I’m grateful that Skomorowsky, a gifted writer and practitioner, has woven together narrative and research to help us see and understand what is invisible and unknown to so many of us. -- Lauren Sandler, author of
This Is All I Got and
One and OnlyWho would have thought that the carrier state of a genetic mutation—fragile X syndrome—would warrant a book? With great insight and kindness, Anne Skomorowsky tells the fascinating story of a group of people who may appear unaffected but struggle mightily with a remarkable number of inherited medical conditions. -- Barron H. Lerner, author of
The Good Doctor: A Father, A Son and the Evolution of Medical EthicsWonderfully reported and written in close-up about people and their families, their tears, and medical challenges,
The Carriers is the rarest book in science, a beautifully readable investigation made from a set of portraits. Like a biography of a genetic mutation, it tells the story of fragile X syndrome through people it most affects. The result is both personal and rigorous, particular and general, science that examines things, but also feels them. -- Edward Ball, author of
The Genetic Strand and
Slaves in the FamilyLucid, comprehensive history of Fragile X. A compassionate medical account. Blending stories and interviews with science and statistics, The Carriers balances the worldwide scope of a disease with intimate details. * Foreword Reviews *
Exceptionally well written, organized and presented. . . . Essential reading for fragile X families, including those just learning they are carriers, and for all professional and non-specialist general readers with an interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality. * Midwest Book Review *
Skomorowsky deftly interweaves science and narrative. The heroic efforts of astute researchers … read like a fast-paced detective story and have ramifications beyond medicine. [An] enlightening account. * Science Magazine *
Exceptionally well written, organized and presented, and enhanced with an especially informative Foreword by pediatric professor and Fragile X researcher Randy J. Hagerman. Essential reading for Fragile X families, including those just learning they are carriers, and for all professional and non-specialist general readers with an interest in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality. * Midwest Book Review *
Skomorowsky’s clear, frank, and compelling writing, [ensures] that this book is appealing and accessible to all audiences. In addition, she brings the vantage point of a psychiatrist who has firsthand experience working with those with intellectual disabilities. As such, she presents complex and comprehensive scientific information about fragile X and the premutation in a simple and engaging manner. The book is well researched, captivating, and an important contribution to better understanding our relationship with genes. * H-Net Humanities and Social Sciences Online *
Table of ContentsForeword, by Randi Hagerman, MD
Introduction: The Carriers
1. One Damn Thing After Another
2. Fragile X Mutations: An Overview
3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What Happened Next
4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
5. The Movement Disorder That Started a Movement: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric Disorders (FXAND)
7. What Are Fragile Eggs? To Test or Not to Test
8. Borderlands of the Premutation: Gray Zones, Low-Normals, and Endophenotypes
9. Outcomes
Notes
Acknowledgments
Index
