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Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families W...

Bijal P. Trivedi

Why we're reading this: A thorough and compelling history of Cystic Fibrosis in the United States. My review: https://www.goodrea …more
[close] A thorough and compelling history of Cystic Fibrosis in the United States. My review: https://www.goodreads.com/book/show/5...

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Jun 20, 2021 Nic rated it it was amazing

Shelves: nonfiction, medical, science

I waited several months for this book to come in from my hold list at the library. The problem is they only have 2 copies at my library and it's 500 pages, so a bit of a hold up, but well worth the wait. Very well written and researched. I would never want to write such a book, but I enjoyed every minute of reading it. Plus, in the acknowledgments Trivedi mentions that she's dyslexic. Quite a feat! Trivedi covers the history of the disease, the history of the Cystic Fibrosis Foundation and thei I waited several months for this book to come in from my hold list at the library. The problem is they only have 2 copies at my library and it's 500 pages, so a bit of a hold up, but well worth the wait. Very well written and researched. I would never want to write such a book, but I enjoyed every minute of reading it. Plus, in the acknowledgments Trivedi mentions that she's dyslexic. Quite a feat! Trivedi covers the history of the disease, the history of the Cystic Fibrosis Foundation and their amazing work, and the finale of the creation of new meds to treat 95% of patients. I found the whole story fascinating, and it's all very recent. In the late 30's early 40's life expectancy, for those with cystic fibrosis (CF), was one year. Now, thanks to recently designed meds, Trivedi shows a life expectancy of 45 years, as of 2017. However, I'll bet that number will increase significantly with these new meds, the first (Kalydeco) being introduced in 2012. It was also interesting to see how new meds are brought to market (huge sums of money required!). Trivedi's creative writing kept me turning pages, here's my favorite, fun sentence which refers to the search for a molecule: At the top of the list was monogamy: it had to target CFTR only and could not cavort with other proteins in the body. 369
As a biology student slogging my way through Gen Chem I and II and Organic Chem plus labs, I was often discouraged. I interviewed some of my doctor friends to see if they actually used chemistry, in practice. One friend said possibly, when titrating med levels, but not to the level of titrations performed in lab. With this book Trivedi shows us organic chemistry at work, while scientists struggled to come up with meds to treat CF. Basically, they created thousands of molecules every day and tested them with high-throughput screening. Maybe trying flourine here or an oxygen there, etc, until they would hit upon molecules that potentially worked. ...Aurora, its technology further streamlined, was screening 50,000 compounds a day for molecules that could fix CFTR. 327 It was the perfect confluence of the right technologies and scientific advances which brought these meds forward.
Unfortunately, the genetic science was not yet at the point to be useful in curing CF. That's another huge, exciting growing field which I'm certain will bear fruits in the near future. By the early to mid-2000s, most researchers and companies would abandon efforts to use gene therapy to cure cystic fibrosis. The field was too immature and the tools and technology too crude. And for CF in particular, gene therapy no longer looked like the best way forward. 263 Although, reading this made me wonder why we're not yet creating surfactant, from genetic engineering, in the same way insulin is produced. Currently, I believe surfactant is harvested from cow, calf, and pig lungs, in order to treat preemie lungs. ...Herbert Boyer, recognized that by identifying and sequencing human genes that coded for essential proteins like insulin, replicating their code - a process called gene cloning - and then inserting those instructions into fast-growing bacterial or mammalian cells, he could manufacture unlimited quantities of any human protein, which could then be sold as a drug. 215
Finally, and probably because Bijal Trivedi is a journalist, she interviews many of the families affected by CF. This brings the terrible nature and devastation of the disease closer to home. Before meds were available to treat CF, patients died at very young ages. She captures the parents' determination and will to force a cure and creation of meds. These families formed the Cystic Fibrosis Foundation and raised vast amounts of money while creating clinics dedicated to the treatment of CF patients, to improve the lifespan for future children born with CF. If it weren't for these families and their continual willpower we wouldn't have the current meds which are helping patients to finally live into their adult years. In the process, they have greatly advanced the science behind engineering new meds, as well as advancing genetic engineering in their continual pursuit of a cure for every CF patient.

Fun facts:
In 1985, as prenatal genetic testing was just gaining a foothold, Philip Farell, a pediatrician and scientist at the University of Wisconsin, Madison, was grappling with the imminent launch of a groundbreaking study into the effectiveness of a different kind of testing: newborn screening. 166

But as meticulous and organized as the chemists were in their designs for new molecules, the failure rate in the lab was sometimes as high as 90 percent. The chemistry simply wouldn't work: the molecules they produced were unexpectedly unstable and disintegrated, or erupted in flames, leaving behind a tiny pile of char. 369

As of 2017, more than 2,000 mutations had been discovered in CF patients worldwide. 480 Referring to mutations specific to the CF disease process.

The garden was an homage to the Cystic Fibrosis Foundation's "65 roses" event, a reference to a child in the early 1950s who misheard "cystic fibrosis" as "sixty-five roses." The rose was also the foundation's adopted symbol of hope. 496

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