The Compelling Story of Cystic Fibrosis and the Dawn of Precision Medicine

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Woe to the child who tastes salty from a kiss on the brow” was a forbidding prophecy from Medieval Europe, presaging unknown disease. Today, we know that salty skin is a telltale sign of cystic fibrosis in children, a disease that eluded medical identification until 1938, when an American pathologist named Dorothy Anderson discovered the first sign of cystic fibrosis while conducting an autopsy on a child who died supposedly from celiac disease. 

Dr. Anderson spent much of the next 11 years compiling research; in 1949, she discovered that cystic fibrosis was caused by a recessive mutant gene. A search for a cure for a disease whose victims almost certainly died before their first birthday had begun.

Flash forward 71 years to Breath From Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever. This is an exhaustively researched book by science writer Bijal P. Trivedi that fills in the historic blanks of cystic fibrosis and describes the development of novel targeted therapies that now promise to cure it.


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

Authors: Bijal P. Trivedi

Publisher: BenBella Books

Publication Date: September 2020

Price: $26.95, hardcover, 576 pages

A Parent’s Nightmare

Organized into 3 parts and 55 chapters, Breath From Salt is a long, sometimes arduous read that should be consumed like a fine, multicourse dinner, with digestive pauses between courses. Ms. Trivedi is an award-winning journalist whose writing has been featured in National Geographic, Wired, Nature, and The New York Times, among others. Her science-writing pedigree is on full display in a book that will leave readers filled with the pivotal science and overwhelming humanity that accompany most great medical journeys.

This journey begins in 1974, when Joe and Kathy O’Donnell stumble out of the doctor’s office and into a private stairwell, where they collapse and break into deep sobs, holding each other for comfort. Their infant son, Joey, was severely ill. Over the next several pages, readers will be swept along a harrowing medical trip of diagnoses, from spinal meningitis to leukemia, as fear and uncertainty emotionally hobble the parents.

Finally, the O’Donnells see another specialist, David Walton, MD, a pediatric ophthalmologist who suggests that Joey’s sweat be tested. Mrs. O’Donnell tells him that this had been done already, months earlier, with normal results. Dr. Walton suggests the test be performed at a larger hospital with more experienced doctors. “The sweat test confirmed Dr. Walton’s suspicions. Joey had hyper-salty sweat, a resident explained, the hallmark of an inherited and fatal disease called cystic fibrosis…. Mrs. O’Donnell was terrified. She had no idea what he was saying, but she seized on one word she understood: fatal,” writes Ms. Trivedi in chapter 1.

Over the next 22 chapters, the author skillfully and compassionately uses Joey’s incredible struggle as the underpinning to the emergence of the science and advocacy that would reshape the treatment of cystic fibrosis. “Joey’s Long Goodbye” is one of the book’s most compelling chapters. Over the course of many pages, dense with medicine, heartache, and hope, readers have rooted for Joey, a boy who handled his desperate condition with humbling courage, as now they say goodbye.

“For a healthy child, morphine is relaxing. For Joey, it was not. The morphine calmed his breathing and absolved his body of the drive to expel carbon dioxide, allowing it to rise in the blood and guide his body into coma…. ‘Are you in pain?’ Mr. O’Donnell asked. Joey shook his head and said he was just tired. “I love you guys, see you tomorrow.” Shortly later, Joey died in his parent’s arms.”

A Doctor’s Doctor

Other parents and children with cystic fibrosis are introduced, putting faces on this devastating disease. The author goes into scientific high gear, detailing the networks of researchers, physicians, policymakers, and other stakeholders who collaborate in an effort to develop treatments for cystic fibrosis. Much of this work is novel, and lovers of science and medicine will be captivated.

The purpose of research is ultimately to help patients. The sections that pair researcher with patient on a personal level are where Ms. Trivedi shines. For instance, she highlights the relationship between Frank Accurso, MD, who ran the cystic fibrosis center at Children’s Hospital in Denver, and a young man named Bill Elder who was diagnosed with cystic fibrosis at age 8.

Far from filling the young boy with dread about his disease, which others had, Dr. Accurso empowered him with knowledge and an emotional toolkit to persevere. It is truly an inspirational story that runs from diagnosis to a first-in-human clinical trial run by Dr. Accurso when Bill, at Stanford University, is struggling to cope with his disease symptoms. “While he was sitting in biology class in the spring of 2006, he received an urgent text from Dr. ­Accurso: Bill, I need to talk to you as soon as possible because we’ve got something groundbreaking. It’s a new trial; call me. This is wonderful news for you.”

A New Era in Medicine

The trial he enrolled Bill Elder on (phase I for ivacaftor [VX-770]) marked the beginning of a new era in medicine. Not only was this the first drug that targeted the very root of the genetic disorder for cystic fibrosis, but it was the first time in medical history that an agent had been designed for patients with a specific mutation. It was, in effect, the dawn of personalized genetic medicine. Moreover, the courageous families in Breath From Salt banded together and put money and passion into an initiative that created the Cystic Fibrosis Foundation, a model in venture philanthropy.

The cystic fibrosis saga is a medical triumph with more work to be done. Much has been written about this devastating genetic disease, but the painstaking details of the struggle, from uncertain medical research to launching an experimental drug, are so powerfully captured by Ms. Trivedi that Breath From Salt stands out in a crowded field. This book is highly recommended for readers of The ASCO Post.