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

Breath from Salt is a very detailed exploration of the history, pathology and treatment of cystic fibrosis. The cystic fibrosis foundation has focused on funding basic research and drug discovery for the disease. This is a model that is essentially required for rare diseases. There is not enough money involved to justify pharmaceutical company expenditures. (Even with the foundation bankrolling most of the research, the pharmaceutical company had to spend plenty to run the clinical trials, and ended up charging high prices for it.)

Cystic Fibrosis is caused by a genetic mutation that primarily occurs in those of European ancestry. Carriers have one copy of the gene. If two carriers have a child, there is a one in 4 chance that the child has cystic fibrosis. Treatment has led to a gradual increase in life expectancy.  A few decades ago, most would die in early childhood. Today, most live to adulthood.

The disease typically leads to decreased lung functionality and damage to the lungs. If it is identified early, treatment can be started, thus delaying irreversible long damage. Treatments have included antibiotics, physical therapy and other types of treatment. The disease can be identified by a "sweat test". (Those with the disease have high salt content.) Genetic tests can also be done to identify the gene. (This can identify carriers as those with the condition, and can be done prenatally.)

There are a large number of different mutations. The book details the research and production of a drug that can treat a mutation held by only 4% of those with the disease. The drug is extremely effective and can help those to live a relatively normal life. Further work was done to attempt to help those with other mutations. (They have been effective, but not nearly as effective for the 4%.) The foundation has helped to enable studies by having a registry of all those with cystic fibrosis and their mutation.

One thing that jumped out in the book was that it seemed all the principal players had a lot of money. Perhaps that was the key to success. It was a rare disease, but it hit some people with deep pockets. (Though some of them only achieved the wealth after dealing with the disease.) They were able to drive the work to help find the cure. 

I wonder what the future will be. Today there are genetic tests to be able to identify the potential for the disease before conceiving. There are also prenatal screens for it. Will the well-to-do now be able to avoid it altogether, slowly pushing the demographic income range? Will the royalties the foundation is collecting enable it to be largely self sufficient? Will gene therapy enable a cure? It will be interesting to see how it all plays out.