Breath from Salt: A Deadly Genetic Disease a New Era in Science and the Patients and Families Who Changed Medicine Forever

About this book

Recommended by Bill Gates and included in GatesNotes "Elaborating on the science as well as the business behind the fight against cystic fibrosis Trivedi captures the emotions of the families doctors and scientists involved in the clinical trials and their weeping with joy as new drugs are approved and shows how cystic fibrosis once a death sentence became for many a manageable condition. This is a rewarding and challenging work." Publishers Weekly Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every typefrom Alzheimers and Parkinsons to diabetes and sickle cell anemia. In 1974 Joey ODonnell was born with strange symptoms. His insatiable appetite incessant vomiting and a relentless coughwhich shook his tiny fragile body and made it difficult to draw breathconfounded doctors and caused his parents agonizing sleepless nights. After six sickly months his salty skin provided the critical clue: he was one of thousands of Americans with cystic fibrosis an inherited lung disorder that would most likely kill him before his first birthday. The gene and mutation responsible for CF were found in 1989discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation a grassroots organization founded by parents formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease. From science writer Bijal P. Trivedi Breath from Salt chronicles the riveting saga of cystic fibrosis from its ancient origins to its identification in the dank autopsy room of a hospital basement and from the CF genes celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. Told from the perspectives of the patients families physicians scientists and philanthropists fighting on the front lines Breath from Salt is a remarkable story of unlikely scientific and medical firsts of setbacks and successes and of people who refused to give up hopeand a fascinating peek into the future of genetics and medicine.