Orphan: The Quest to Save Children with Rare Genetic Disorders

by Philip R. Reilly

Orphan is about the struggle to save the lives of children who, because of an unlucky roll of the genetic dice, are born with any one of several thousand rare genetic disorders. Many are burdened with diseases that carry mysterious names, some of which you can read about for the first time in this book, along with compelling stories about the physicians, scientists, and parents who have taken them on. The diseases include phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, and Friedreich's ataxia-just a few of the more than 1000 genetic disorders that are well-described and many more that are not. Many manifest in infancy. Some show up in mid-childhood, others later in childhood, and still others among adults. They touch almost every extended family. Orphan is more than a book about disease and research--it gives voice to thousands of people who, all too often, have endured terrible illnesses, bravely faced arduous clinical trials, and, sometimes, have gained victories, almost always in silence. This book recounts extraordinary breakthroughs and hopes for the future. Many of the disorders that will end our lives are in some part genetically influenced. We really are all orphans, and this book is for all of us.

Genres: Genetics, Science, Nonfiction

408 pages, Hardcover

First published August 31, 2015

Reviews

[Denis · Rating 5 out of 5]

Comprehensive discussion of Genetics, past, present & future

Although I'm not a biologist, I found this book immensely interesting from the historical background to so many disorders, the state-of-the art treatments of today and projections for the future treatment of these rare genetic disorder. As the author notes towards the end of the book, if we look into our own ancestry, we are bound to find any number of 'familial traits' which likely have a genetic cause. So although most of the book delves into Orphan diseases, the very techniques used to treat/cure Orphan diseases are crucial in treating cancers, heart disease, etc.. The author's genetic background emerges as he time and again notes his presence at pivotal points in genetic discovery and his personal meetings and affiliations with so many of the key researchers in genetics. His writing style was quite engaging, occasionally making note of his own genetics and poignant anecdotal quips. Finally, the author's grasp of the legal and ethical nuances of such discoveries left me with an appreciation of all that medical researchers do to improve the quality of our lives, despite the legal and ethical hurdles that must be overcome in the process.

[Mariia · Rating 5 out of 5]

While overall the book is very interesting and well structured, it was at times somewhat repetitive, both within the same chapter and in between chapters. The repetitions in between chapters could be explained by the fact that the chapters were written independently, maybe not in order, originally. But the repetitions within chapters felt a little boring. I mean, I recognize that there is an algorithm to creating and approving a drug, but perhaps I don’t need to read it again and again for every single drug mentioned?

[ash · Rating 5 out of 5]

very helpful

[Kristen Rose · Rating 2 out of 5]

Too advanced and too dry for me. Got a few chapters in and gave up.