The history of cystic fibrosis extends far back in time, a largely silent and misunderstood disease for ages. Slight hints of its presence pop up in scattered records, and its characteristic symptoms are often recorded as signs of bewitchment. Medieval folklore predicted death for “hexed” infants that taste salty when kissed, a premonition of sickness, emaciation, and death. A professor in 1595 performed an autopsy of a “bewitched” girl whose pancreas was swollen, hardened, and gleaming white. These scattered references indicate that cystic fibrosis has existed for a long time.
Cystic fibrosis is a genetic condition that causes damage to the lungs, digestive system, and other organs. It specifically affects cells that make mucus, sweat, and digestive juices. Usually, these secretions are thin and slippery to lubricate and protect internal tubes and passageways. However, due to cystic fibrosis, the secretions become sticky and thick, causing life-threatening symptoms.
The first scientific descriptions of cystic fibrosis began to be penned in the early 20th century. There was some initial confusion over the true source of the pancreatic symptoms and excessive mucus in the lungs, with many attributing it to a Vitamin A deficiency. By 1944, it began to be clear that this illness was correlated with effects in organs with exocrine solution, leading to the coining of the term “mucoviscidosis.” The disease was just beginning to be called cystic fibrosis.
Developments in our understanding of cystic fibrosis rapidly erupted at this point. A study of 47 families with cystic fibrosis patients in 1946 concluded through clinical evidence that it was a recessive illness that followed Mendelian patterns. In 1953, researchers detected abnormalities in the sweat glands of patients, which led to the development of a diagnostic test that is still used today: the sweat test, which quantifies electrolytes in sweat.
During this time, although the actual cause had not yet been identified, advances in pharmacology and treatments were able to increase life expectancies for cystic fibrosis patients who were experiencing the most deadly early-life symptoms and co-morbid illnesses. Prior to the 1950s, the projected age of survival for those with cystic fibrosis was less than five years old. By 1970, patients tended to live until 15, a significant increase. This would proceed to double to age 30 by around 1990.
Further increase in the life expectancy of those with cystic fibrosis was due to the efforts of researchers. In a massive breakthrough in human genetics, the CFTR gene that causes cystic fibrosis was discovered in 1989, the first disease-causing gene to be identified in any disease. Over 2,000 different variations of the CFTR gene mutation have been identified since then, allowing the development of transformative therapies that have drastically improved the lives of many with cystic fibrosis.
One incredible development is triple combination therapy, which combines three treatments to tackle the underlying cause of cystic fibrosis, the faulty CFTR protein that changes how much salt moves in and out of cells. The medications aim to restore the function of the defective protein, leading to the thinning and loosening of the sticky mucus that causes many life-threatening problems. Upon starting the treatment, patients often experience an immense “purging” where they cough out an incredible volume of recently loosened mucus. For some, the purge lasts for a day or two. For others, it subsides after about a week. This therapy noticeably improves lung function and quality of life for around 90% of people with cystic fibrosis. For those who respond to the treatment, the medicine seems like a miracle.
There is still much work to be done for cystic fibrosis research. The search continues for treatments that will work for the remaining 10% of patients who do not respond to triple combination therapy. Still, in just 125 years since the beginning of the 20th century, our understanding of cystic fibrosis has grown from legends of bewitchment to detailed knowledge of the mutations of a single gene. Due to this perseverance in research, the median life expectancy of a child born with cystic fibrosis today is 61 years old. The history of cystic fibrosis provides a unique perspective on how far medical research has come and inspires hope for future discoveries.
Thank you for reading,
Ashby Glover
Sources:
https://www.researchgate.net/publication/332220096_The_History_of_Cystic_Fibrosis https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700