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The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery
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.
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.
280 pages, Hardcover
Published May 3, 2022
16 people are currently reading
226 people want to read
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Displaying 1 - 12 of 12 reviews
June 14, 2022
I received an eARC of this book from the publisher Columbia University Press via Netgalley in exchange for an honest review.
Anyone who’s been gripped by the title of the book or its description would find it a delightful read, especially those interested in the biomedical sciences. The book is tightly wrapped around stories, human stories, which makes it a great read-for-leisure publication. This is because I don’t believe the author meant for the book to be used as a scientific reference. Its purpose: shedding light on an otherwise obscure genetic disorder.
It’s a great book that introduces a rather peculiar syndrome to the average reader. An intriguing genetic disorder with captivating accounts from the people affected by it, and the journey of its scientific discovery.
Read the full 7-minute-read review at mustafaabbass.com
November 18, 2022
I couldn't finish this book. When she advocates aborting carrier babies, that did it for me. Not reading another word. I'm a carrier and I have three children with the full mutation of Fragile X Syndrome. I've made a positive difference in the world, and so have my children. The sad thing is, there's a lot of good information about Fragile X carrier disorders in the book that could be useful. Abortion as preferable to life as a carrier just strikes me as a place Dr. Skomorowsky didn't have to go. This is eugenics disguised as a book on Fragile X Carriers.
June 7, 2022
Thank you NetGaley, who for offering me a free advanced reader’s copy in exchange for an honest review.
Fragile X syndrome is a debilitating poorly-understood disease plaguing multigenerational families, with symptoms increasing in severity from generation to generation. Fragile X syndrome is caused by the repeat of 3 letters—CGG—in the DNA upstream of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. This gene codes for FMRP (standing for Fragile X Mental Retardation Protein) which is important for brain development, and many other things. In non-affected individuals, the CGG triplet repeats 4-45 times. Affected individuals have more than 200 CGG repeats. In-between, individuals carrying ~50-200 repeats have what is called a premutation; they are assumed ‘healthy’ but carry the risk of having a child with full fragile X mutation in a single generation.
The book discusses the now accepted fact that ‘carriers’ are not just individuals waiting for a silent genetic bomb to go off in their offspring, but experience pathology themselves. The author then details three main syndromes associates with the carrier fragile X status:
1) Fragile X-associated primary ovarian insufficiency (FXPOI)
2) Fragile X-associated tremor/ataxia syndrome (FXTAS)
3) Fragile X-associated neuropsychiatric disorders (FXAND)
Dr. Anne Skomorowsky, who is the author and a psychiatrist, attempted to give premutation carriers a history of how premutation associated syndromes have been discovered, and also offer some life advice. Unfortunately, the book is disorganized, confusing and includes pseudoscientific information and opinions that could be damaging to the individuals afflicted. In my opinion, if you are a premutation carrier and need more information, you should start with Wikipedia. I don’t recommend this book, and I don’t think a lay person is served well, but it may be a stopping point for some. Sadly, there isn’t a lot of literature on the topic available at the moment, so I understand if this may be a starting point for you.
Quick sidenote on the reviewer: I’m a PhD in biochemistry and I also hold a masters in biochemistry and molecular biology. During my masters I worked on a project in another syndrome very similar to Fragile X—namely myotonic dystrophy 1 (MD1). I am very familiar with genetic mutations in which a DNA trinucleotide repeat ‘stutters’, amplifies, becomes silenced by epigenetic mechanisms and also affects RNA metabolism. That being said: I could not understand the mechanism of the disease from the book. I only understood the currently proposed mechanism after reading other publications, because the author made it very very confusing. If a biologist with experience in a very similar field could not follow the explanations, I doubt a lay reader can understand what the author was trying to explain.
However, the book still had the opportunity to offer a voice to premutation carriers and their families including members with full fragile X syndrome. Here too, however, I got lost. The author traveled across the US and even outside the US to Colombia to interview families afflicted by premutation and the full fragile X mutation. Sadly, it was all a blur of extraneous information, not organized in a concise, easy to follow manner. We jump around from interviewer to interviewee, to patient, to scientist, to nurse, to secretary. We are told small stories, the words accumulate, as does the confusion. So much irrelevant information was presented that I have a hard time remembering it and understanding its relevance. I’m again speaking from the perspective of a specialist—as I now transitioned from a scientific career, to one as a medical writer. Clarity is key and clarity was scarce in the ARC I reviewed.
I wanted very much to give this book a high rating, as it had the potential to offer afflicted families a voice. Like one of the scientists in the book says “…if clinicians will really listen to their patients, it is amazing what can be discovered”. And since FXPOI affects women, who as we well know are more likely to have their symptoms overlooked by medical professionals, we are touching on the very important topic of patient self-advocacy in a hostile medical environment. Many gynecologists with whom the author had spoken weren’t even aware the diagnosis of FXPOI existed, even though it has been established more than three decades ago.
The speculations the author put forth however were often superficial and could potentially limit the understanding of lay readers to comprehend how to respond and how to prepare for a carrier status.
Take for example this paragraph on the mechanism of action for Fragile X included in the chapter discussing FXTAS. The author discusses inclusion bodies—which are clumps of protein and RNA accumulating inside a cell like garbage left uncollected in a neighborhood. The author mentions similar inclusion bodies are observed in other diseases where 3 DNA letters ‘stutter’ and are amplified out of control (including Huntington’s disease, or myotonic dystrophy 1); then she continues by saying “Why they [the inclusions bodies] are there [inside the cell] is unclear, but their presence is a sign that the cell is in trouble.” First of all, the inclusion bodies in Huntington and MD1 are VERY different in nature. In Huntington we see a clumping of the mutated protein huntingtin, because the mutation causes the protein to fold incorrectly and to stick together with more mutated, misfolded proteins; this happens in the cytoplasm, meaning outside of the nucleus of the cell. When the cells accumulate a lot of misfolded proteins they are more likely to commit suicide. In MD1, the inclusion bodies occur in the nucleus and they are formed by RNA-protein clumps; in MD1 the mutation occurs outside the region of the gene that would make a protein, more specifically in a region (called intron) that is copied when the gene is read, but is then edited out. The MD1 mutated RNA however ends up forming clumps inside the nucleus which trap proteins meant to edit the messenger RNA (the famous mRNA) into its adult form capable of making proteins. The RNA-protein clumps then completely derail the machine meant to edit mRNA inside the cell. Two very different mechanisms which the author wrapped up with the same vague language "the cell is in trouble". The scientists are not clueless, as the author suggest, about the potential significance of these inclusion bodies. As a lay reader I may as well assume that we’re just divining what’s going on in the cell, and that little is known. Much is unknown in fragile X, but much is known as well. And the author chose the wrong big enigma to represent.
I’ve mentioned also examples where the author could cause harm to the readers. Here are some glaring examples:
1) In chapter 7 we are discussing the case of Carol, a premutation carrier and her family. Carol “had a cancer recurrence. Carol believes in the mind-body connection. She thought positively and used imagery and prayer. Remarkably, her cancer disappeared.” This is a very dangerous statement to make without a cautionary sentence or paragraph about the fact that a) while cancer can spontaneously progress there is ZERO evidence that imagery/prayer has anything to do with cancer disappearance (you can argue it improves hope and quality of life) and b) women have fallen for such approaches AND DIED!! I have not seen the author make this statement in the ARC. Keep in mind that some people who were inside the Chernobyl Nuclear Power Plant when it exploded survived and never got cancer. That does NOT mean we should tell people that it's okay to expose themselves to radiation and that they won't die. Some people are lucky and have good genes, and I expect an MD author to make it very clear that alternative treatments are to be considered thoughtfully. The way this was phrased (and the way other sentences were phrased later on) it sounded like the author may be endorsing such alternative practices as therapeutic on their own. Not a good idea.
2) The author lets multiple experts discuss at large how they believe premutation carriers should abort their carrier children!! I’m pro-choice, and arguments for abortion should be based on logic and good science. In other words: make an informed choice, not one based on fear mongering and misinformation. Later, at the end of the book, the author acknowledges that especially in females, it is hard to predict which X chromosome will become inactivated in the brain cells, thereby suggesting (correctly) that it is impossible to predict if a female premutation carrier will have any significant symptoms, if any! Why wasn’t this discussed next to the advice to abort premutation babies?!? Why was abortion so casually mentioned? Are we now saying that unless the child has NO disability, their life is not worth it? That’s the ableist message I got. Keep in mind, the symptoms one expert thought would be incompatible with life in a premutation carrier included: early menopause and infertility, pain syndromes such as fibromyalgia and migraines, neurological degeneration later in life. How many people live long productive lives with one or multiple of those conditions?
3) The discussion on genetic testing for the children of confirmed carriers was a hot ethical and moral mess.
4) There was a GIGANTIC MESS in the sub-chapter titled “Too Few CGGs is no Safeguard” where the author talks about the dangers of having too few repeats in the DNA preceding the FMR1 gene: “The authors noted that(…)low CGG numbers might increase the survival of embryos carrying BRCA1 and BRCA2 mutations, allowing them to live long enough to develop cancer.” BRCA1 and BRCA2 mutations PREDISPOSE to a series of cancers, including breast, ovarian, prostate and pancreas, THEY ARE NOT LETHAL MUTATIONS!!!!! An embryo with mutated BRCA1 and 2 won't die because of these mutations. The sentence isn’t taken out of context, it’s not in context at all.
5) This statement from the same page, dropped out of nowhere too: “Older women with low repeat numbers were six times as likely to need more drinks to get as tipsy as they had in their youth.” So is the author trying to say that fewer repeats impacts liver metabolism? And only later in life? Perhaps the author should have also considered the very well-known fact that phase 1 liver metabolism changes with age, it usually slows down and could explain the tipsiness changes. Why was this sentence presented then?
6) The book induces non-specific anxiety because of the way the information is not clearly organized and proper disclosures on knowledge limitations are not presented. At one point everything under the sun is linked by the author to premutation carrier syndrome, including type 2 diabetes, but the connection is never explained. (side note: the author succumbed to this anxiety and believed she may be a carrier herself. A test revealed she was not. Now I worry about all those women who are also freaked out by this book and will spend a lot of money on a test they don’t need).
7) In the subchapter “A Confluence of Influences” the author discusses parental distress and maternal depression. A specialist is then cited saying they believe the child’s disease causes the mother’s depression. This whole sub-chapter is very triggering, at times feels like it’s blaming the children and was treated with poor regard for sensitivity. It gets worse later when we’re told that women may be choosing partners who are like themselves (i.e. having mental problems). Again, what happened to sensitivity here? Also, I read very conflicting reports about choosing life partners, with a lot of articles suggesting it's more likely we choose either a mate that a) matches what we've seen at home or b) a mate that has a different but complementary temperament to ours (it's the reason why you often see successful introvert-extrovert pairs).
8) Quote: “Premutation carriers should (…) AVOID EXPOSURE TO TOXINS.” This is a pseudoscientific statement that snake-oil salesmen will love. It is IRRESPONSIBLE that an MD wrote this. Nobody eats toxins willingly. This is fearmongering.
I’m giving the book 2 stars because it may be filling a niche in need of more literature. But this niche needs a better book, and it needs it now.
Fragile X syndrome is a debilitating poorly-understood disease plaguing multigenerational families, with symptoms increasing in severity from generation to generation. Fragile X syndrome is caused by the repeat of 3 letters—CGG—in the DNA upstream of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. This gene codes for FMRP (standing for Fragile X Mental Retardation Protein) which is important for brain development, and many other things. In non-affected individuals, the CGG triplet repeats 4-45 times. Affected individuals have more than 200 CGG repeats. In-between, individuals carrying ~50-200 repeats have what is called a premutation; they are assumed ‘healthy’ but carry the risk of having a child with full fragile X mutation in a single generation.
The book discusses the now accepted fact that ‘carriers’ are not just individuals waiting for a silent genetic bomb to go off in their offspring, but experience pathology themselves. The author then details three main syndromes associates with the carrier fragile X status:
1) Fragile X-associated primary ovarian insufficiency (FXPOI)
2) Fragile X-associated tremor/ataxia syndrome (FXTAS)
3) Fragile X-associated neuropsychiatric disorders (FXAND)
Dr. Anne Skomorowsky, who is the author and a psychiatrist, attempted to give premutation carriers a history of how premutation associated syndromes have been discovered, and also offer some life advice. Unfortunately, the book is disorganized, confusing and includes pseudoscientific information and opinions that could be damaging to the individuals afflicted. In my opinion, if you are a premutation carrier and need more information, you should start with Wikipedia. I don’t recommend this book, and I don’t think a lay person is served well, but it may be a stopping point for some. Sadly, there isn’t a lot of literature on the topic available at the moment, so I understand if this may be a starting point for you.
Quick sidenote on the reviewer: I’m a PhD in biochemistry and I also hold a masters in biochemistry and molecular biology. During my masters I worked on a project in another syndrome very similar to Fragile X—namely myotonic dystrophy 1 (MD1). I am very familiar with genetic mutations in which a DNA trinucleotide repeat ‘stutters’, amplifies, becomes silenced by epigenetic mechanisms and also affects RNA metabolism. That being said: I could not understand the mechanism of the disease from the book. I only understood the currently proposed mechanism after reading other publications, because the author made it very very confusing. If a biologist with experience in a very similar field could not follow the explanations, I doubt a lay reader can understand what the author was trying to explain.
However, the book still had the opportunity to offer a voice to premutation carriers and their families including members with full fragile X syndrome. Here too, however, I got lost. The author traveled across the US and even outside the US to Colombia to interview families afflicted by premutation and the full fragile X mutation. Sadly, it was all a blur of extraneous information, not organized in a concise, easy to follow manner. We jump around from interviewer to interviewee, to patient, to scientist, to nurse, to secretary. We are told small stories, the words accumulate, as does the confusion. So much irrelevant information was presented that I have a hard time remembering it and understanding its relevance. I’m again speaking from the perspective of a specialist—as I now transitioned from a scientific career, to one as a medical writer. Clarity is key and clarity was scarce in the ARC I reviewed.
I wanted very much to give this book a high rating, as it had the potential to offer afflicted families a voice. Like one of the scientists in the book says “…if clinicians will really listen to their patients, it is amazing what can be discovered”. And since FXPOI affects women, who as we well know are more likely to have their symptoms overlooked by medical professionals, we are touching on the very important topic of patient self-advocacy in a hostile medical environment. Many gynecologists with whom the author had spoken weren’t even aware the diagnosis of FXPOI existed, even though it has been established more than three decades ago.
The speculations the author put forth however were often superficial and could potentially limit the understanding of lay readers to comprehend how to respond and how to prepare for a carrier status.
Take for example this paragraph on the mechanism of action for Fragile X included in the chapter discussing FXTAS. The author discusses inclusion bodies—which are clumps of protein and RNA accumulating inside a cell like garbage left uncollected in a neighborhood. The author mentions similar inclusion bodies are observed in other diseases where 3 DNA letters ‘stutter’ and are amplified out of control (including Huntington’s disease, or myotonic dystrophy 1); then she continues by saying “Why they [the inclusions bodies] are there [inside the cell] is unclear, but their presence is a sign that the cell is in trouble.” First of all, the inclusion bodies in Huntington and MD1 are VERY different in nature. In Huntington we see a clumping of the mutated protein huntingtin, because the mutation causes the protein to fold incorrectly and to stick together with more mutated, misfolded proteins; this happens in the cytoplasm, meaning outside of the nucleus of the cell. When the cells accumulate a lot of misfolded proteins they are more likely to commit suicide. In MD1, the inclusion bodies occur in the nucleus and they are formed by RNA-protein clumps; in MD1 the mutation occurs outside the region of the gene that would make a protein, more specifically in a region (called intron) that is copied when the gene is read, but is then edited out. The MD1 mutated RNA however ends up forming clumps inside the nucleus which trap proteins meant to edit the messenger RNA (the famous mRNA) into its adult form capable of making proteins. The RNA-protein clumps then completely derail the machine meant to edit mRNA inside the cell. Two very different mechanisms which the author wrapped up with the same vague language "the cell is in trouble". The scientists are not clueless, as the author suggest, about the potential significance of these inclusion bodies. As a lay reader I may as well assume that we’re just divining what’s going on in the cell, and that little is known. Much is unknown in fragile X, but much is known as well. And the author chose the wrong big enigma to represent.
I’ve mentioned also examples where the author could cause harm to the readers. Here are some glaring examples:
1) In chapter 7 we are discussing the case of Carol, a premutation carrier and her family. Carol “had a cancer recurrence. Carol believes in the mind-body connection. She thought positively and used imagery and prayer. Remarkably, her cancer disappeared.” This is a very dangerous statement to make without a cautionary sentence or paragraph about the fact that a) while cancer can spontaneously progress there is ZERO evidence that imagery/prayer has anything to do with cancer disappearance (you can argue it improves hope and quality of life) and b) women have fallen for such approaches AND DIED!! I have not seen the author make this statement in the ARC. Keep in mind that some people who were inside the Chernobyl Nuclear Power Plant when it exploded survived and never got cancer. That does NOT mean we should tell people that it's okay to expose themselves to radiation and that they won't die. Some people are lucky and have good genes, and I expect an MD author to make it very clear that alternative treatments are to be considered thoughtfully. The way this was phrased (and the way other sentences were phrased later on) it sounded like the author may be endorsing such alternative practices as therapeutic on their own. Not a good idea.
2) The author lets multiple experts discuss at large how they believe premutation carriers should abort their carrier children!! I’m pro-choice, and arguments for abortion should be based on logic and good science. In other words: make an informed choice, not one based on fear mongering and misinformation. Later, at the end of the book, the author acknowledges that especially in females, it is hard to predict which X chromosome will become inactivated in the brain cells, thereby suggesting (correctly) that it is impossible to predict if a female premutation carrier will have any significant symptoms, if any! Why wasn’t this discussed next to the advice to abort premutation babies?!? Why was abortion so casually mentioned? Are we now saying that unless the child has NO disability, their life is not worth it? That’s the ableist message I got. Keep in mind, the symptoms one expert thought would be incompatible with life in a premutation carrier included: early menopause and infertility, pain syndromes such as fibromyalgia and migraines, neurological degeneration later in life. How many people live long productive lives with one or multiple of those conditions?
3) The discussion on genetic testing for the children of confirmed carriers was a hot ethical and moral mess.
4) There was a GIGANTIC MESS in the sub-chapter titled “Too Few CGGs is no Safeguard” where the author talks about the dangers of having too few repeats in the DNA preceding the FMR1 gene: “The authors noted that(…)low CGG numbers might increase the survival of embryos carrying BRCA1 and BRCA2 mutations, allowing them to live long enough to develop cancer.” BRCA1 and BRCA2 mutations PREDISPOSE to a series of cancers, including breast, ovarian, prostate and pancreas, THEY ARE NOT LETHAL MUTATIONS!!!!! An embryo with mutated BRCA1 and 2 won't die because of these mutations. The sentence isn’t taken out of context, it’s not in context at all.
5) This statement from the same page, dropped out of nowhere too: “Older women with low repeat numbers were six times as likely to need more drinks to get as tipsy as they had in their youth.” So is the author trying to say that fewer repeats impacts liver metabolism? And only later in life? Perhaps the author should have also considered the very well-known fact that phase 1 liver metabolism changes with age, it usually slows down and could explain the tipsiness changes. Why was this sentence presented then?
6) The book induces non-specific anxiety because of the way the information is not clearly organized and proper disclosures on knowledge limitations are not presented. At one point everything under the sun is linked by the author to premutation carrier syndrome, including type 2 diabetes, but the connection is never explained. (side note: the author succumbed to this anxiety and believed she may be a carrier herself. A test revealed she was not. Now I worry about all those women who are also freaked out by this book and will spend a lot of money on a test they don’t need).
7) In the subchapter “A Confluence of Influences” the author discusses parental distress and maternal depression. A specialist is then cited saying they believe the child’s disease causes the mother’s depression. This whole sub-chapter is very triggering, at times feels like it’s blaming the children and was treated with poor regard for sensitivity. It gets worse later when we’re told that women may be choosing partners who are like themselves (i.e. having mental problems). Again, what happened to sensitivity here? Also, I read very conflicting reports about choosing life partners, with a lot of articles suggesting it's more likely we choose either a mate that a) matches what we've seen at home or b) a mate that has a different but complementary temperament to ours (it's the reason why you often see successful introvert-extrovert pairs).
8) Quote: “Premutation carriers should (…) AVOID EXPOSURE TO TOXINS.” This is a pseudoscientific statement that snake-oil salesmen will love. It is IRRESPONSIBLE that an MD wrote this. Nobody eats toxins willingly. This is fearmongering.
I’m giving the book 2 stars because it may be filling a niche in need of more literature. But this niche needs a better book, and it needs it now.
November 28, 2024
As a carrier with FXPOI, I cannot put into words the validation and support that this book has given me. Reading The Carriers was like looking into mirror; and stepping into a time machine. Thank you, to all those who made reading this book a possibility.
January 27, 2022
The term “fragile X” comes from the appearance of the X chromosome under a microscope looks broken at the tip or “fragile.”
The genetic disorder fragile X syndrome (also termed Martin-Bell syndrome or marker X syndrome) is the most commonly inherited form of developmental and intellectual disability.
According to the National Fragile X Foundation, “The agreed upon prevalence of FXS in males is approximately 1 in 7,000 and in females 1 in 11,000.” Fragile X syndrome has been found in all major ethnic groups and races.
Author Anne Skomorowsky introduces the reader to several families who have children with the full fragile X mutation as well as the parents and sometimes, the grandparents who are also affected by associated fragile X syndromes. Because the science of fragile X gene is a rather complex subject (and beyond the scope of this review), anyone who is interested in the subject can access the National Fragile X Foundation’s excellent resources at fragilex.org.
I wasn’t familiar with the history of fragile X and the author does an excellent job of recounting the years of research into the affliction.
Anyone interested in the subject will find this book a fascinating read as well as those readers who are more familiar with medical history or mental disabilities would still find it a worthwhile read.
The genetic disorder fragile X syndrome (also termed Martin-Bell syndrome or marker X syndrome) is the most commonly inherited form of developmental and intellectual disability.
According to the National Fragile X Foundation, “The agreed upon prevalence of FXS in males is approximately 1 in 7,000 and in females 1 in 11,000.” Fragile X syndrome has been found in all major ethnic groups and races.
Author Anne Skomorowsky introduces the reader to several families who have children with the full fragile X mutation as well as the parents and sometimes, the grandparents who are also affected by associated fragile X syndromes. Because the science of fragile X gene is a rather complex subject (and beyond the scope of this review), anyone who is interested in the subject can access the National Fragile X Foundation’s excellent resources at fragilex.org.
I wasn’t familiar with the history of fragile X and the author does an excellent job of recounting the years of research into the affliction.
Anyone interested in the subject will find this book a fascinating read as well as those readers who are more familiar with medical history or mental disabilities would still find it a worthwhile read.
July 23, 2022
I cannot explain how much reading this book has impacted me. Anne Skomorowsky weaves together the complex education of a genetic condition (Fragile X premutation), beautiful personal storytelling and a call for doctors to listen and learn from their patients. She examines the stories of several families affected by Fragile X and the individuals who carry the premutation. I learned a lot about medically about this diagnosis, but the true impact was in the stories. As Skomorowsky described some of these families, I had to stop reading several times to process/have a good cry because of the similarities to my own experience. My only hesitation in recommending it is the stories of abortion/sterilization which I grieved over as I read. Overall though, if you are wanting to learn more about Fragile X and the impact it can have on a family over several generations, you should definitely consider reading this book.
January 2, 2022
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.
March 7, 2022
I loved this book. Dr. Skomorowsky tells touching stories about people affected by Fragile X disorders. She is an excellent story-teller. Some of the stories are heart-breaking, but needed to be told. Dr. Skomorowsky uses a great deal of compassion in telling these stories, incorporating her own journey along the way. She also explains the science very well and with a conversational tone. Genetics can be so very complicated, but the book provides an amazing amount of clarity. I knew nothing about Fragile X and this book taught me so much. Thank you to Dr. Skomorowsky for providing me with this information and to Netgalley and Columbia University Press for the advance reader copy.
January 12, 2022
The Carriers: What the Fragile X Gene Reveals about Family, Heredity, and Scientific Discovery by Anne Skomorowsky is a fascinating book that investigates Fragile X Syndrome, a common but relatively unknown genetic condition.
This book is very well written, and very informative. We not only follow scientists on their quest to find out more about Fragile X Syndrome, but we also follow families and societies, and the impact Fragile X has on their daily lives, which is a very interesting approach in my opinion.
The book also explained why Fragile X Syndrome does not follow Mendel's laws of inheritance, and why some carriers are affected, though in different ways than their "fully" affected counterparts.
I would recommend the reader to have at least a basic knowledge of genetics and how gene transmission works across generations, but it is my belief anyone could read this book if they were willing to do some research, since the author has a way of explaining things quite simply.
Overall, an awesome book. A must read for anyone interested in genetics or Fragile X Syndrome.
Thanks to the publishers and Netgalley for giving me a free digital copy of this book in exchange for an honest review.
This book is very well written, and very informative. We not only follow scientists on their quest to find out more about Fragile X Syndrome, but we also follow families and societies, and the impact Fragile X has on their daily lives, which is a very interesting approach in my opinion.
The book also explained why Fragile X Syndrome does not follow Mendel's laws of inheritance, and why some carriers are affected, though in different ways than their "fully" affected counterparts.
I would recommend the reader to have at least a basic knowledge of genetics and how gene transmission works across generations, but it is my belief anyone could read this book if they were willing to do some research, since the author has a way of explaining things quite simply.
Overall, an awesome book. A must read for anyone interested in genetics or Fragile X Syndrome.
Thanks to the publishers and Netgalley for giving me a free digital copy of this book in exchange for an honest review.
June 22, 2023
I had to read this in very small increments because I would start to panic. That said, this is SO informative, and answered a lot of unanswered questions I’ve been carrying around for nearly a decade. So grateful for this book.
July 1, 2024
For all you carriers out there, this is such a necessery read. Explains so many thing I have never really understood and brought other things to light.
July 15, 2025
The term “fragile X” comes from the appearance of the X chromosome under a microscope looks broken at the tip or “fragile.”
The genetic disorder fragile X syndrome (also termed Martin-Bell syndrome or marker X syndrome) is the most commonly inherited form of developmental and intellectual disability.
According to the National Fragile X Foundation, “The agreed upon prevalence of FXS in males is approximately 1 in 7,000 and in females 1 in 11,000.” Fragile X syndrome has been found in all major ethnic groups and races.
Author Anne Skomorowsky introduces the reader to several families who have children with the full fragile X mutation as well as the parents and sometimes, the grandparents who are also affected by associated fragile X syndromes. Because the science of fragile X gene is a rather complex subject (and beyond the scope of this review), anyone who is interested in the subject can access the National Fragile X Foundation’s excellent resources at fragilex.org.
I wasn’t familiar with the history of fragile X and the author does an excellent job of recounting the years of research into the affliction.
Anyone interested in the subject will find this book a fascinating read as well as those readers who are more familiar with medical history or mental disabilities would still find it a worthwhile read.
[Thank you to NetGalley and the author for the advanced ebook copy in exchange for my honest and objective opinion which I have given here.]
The genetic disorder fragile X syndrome (also termed Martin-Bell syndrome or marker X syndrome) is the most commonly inherited form of developmental and intellectual disability.
According to the National Fragile X Foundation, “The agreed upon prevalence of FXS in males is approximately 1 in 7,000 and in females 1 in 11,000.” Fragile X syndrome has been found in all major ethnic groups and races.
Author Anne Skomorowsky introduces the reader to several families who have children with the full fragile X mutation as well as the parents and sometimes, the grandparents who are also affected by associated fragile X syndromes. Because the science of fragile X gene is a rather complex subject (and beyond the scope of this review), anyone who is interested in the subject can access the National Fragile X Foundation’s excellent resources at fragilex.org.
I wasn’t familiar with the history of fragile X and the author does an excellent job of recounting the years of research into the affliction.
Anyone interested in the subject will find this book a fascinating read as well as those readers who are more familiar with medical history or mental disabilities would still find it a worthwhile read.
[Thank you to NetGalley and the author for the advanced ebook copy in exchange for my honest and objective opinion which I have given here.]
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