The Carriers

What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery

by Anne Skomorowsky

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Pub Date May 03 2022 | Archive Date Aug 10 2022

Science

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Description

A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence.

The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades.

The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.

Advance Praise

"The Carriers represents a lucid and insightful look at the myriad consequences of an expanded CGG repeat in the DNA of the fragile X (FMR1) gene. A remarkable quality of this book is the way the author emphasizes the humanity of those experiencing the consequences of the repeat expansion, due to the gene itself and to 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

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EDITION	Other Format
ISBN	9780231197663
PRICE	$28.00 (USD)

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Additional Information

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Featured Reviews

Liz H, Reviewer

Solid writing and good storytelling, bringing together lots of elements at play in a complex genetic disorder. The author does a great job conveying the nuance and controversy of different doctors and scientists at work in the field of Fragile X. I think this book is for two groups of people: 1. Doctors/scientists who might not be as aware of new discoveries in Fragile X research. I am a pediatrician and certainly learned a LOT. 2. People outside the med community with relatives with Fragile X or new diagnoses of Fragile X in their family, who might seek to think through how this could affect their living and future offspring and families.

My one quibble with the author, and why I couldn't quite give this five stars, is that I felt occasionally her physical descriptions of people in her story were unnecessary, particularly of women, and did not add to her narrative significantly. It would be one thing if she was describing physical traits of the Fragile X disorder, but this wasn't the case. She describes the main doctor on whom her story rests as "the rugged bony daughter of a Norwegian sea captain." Another woman is described as " still [looking] too young to be the mother of a 12 year old." I found this odd for a storyteller who is clearly invested in making sure that the contributions of women to this story are honored--sometimes the physical traits were described first rather than more important attributes.

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Reviewer 515830

Looking forward to this book being published. I have spoken to so many people about it because I find it important and educational, we need to be talking more about the Fragile X gene and malformations of the X gene and how that can affect a carrier's life. This was a personal read for me and I wish I had this book before I became a mother. The importance of the medical community to know about this book is extremely important, I was not given genetic testing, and the questions I was asked to see whether I qualified or should take genetic questions did not even come close to the questions brought up in The Carriers. Anne Skomorowsky has given me peace of mind, and the tools to advocate for myself and the rest of my family, I am grateful I was able to read and review The Carriers.