A Brief History of Cystic Fibrosis

0

In the genetics world, cystic fibrosis (CF) is one of the better-known inherited conditions. It’s relatively common (at least in the European population) and it has its own well-established foundation, representing approximately 30,000 people with CF in the United States. To add a touch of glam to the story, it is speculated that Frédéric Chopin was affected with CF.

Rumor has it that CF appeared about 3,000 BC. Though European folklore and literature from the 18th century warned, “Woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon must die,” the condition was not formally described until the 1930s.

In 1938, Dorothy Hansine Andersen was the first to make a connection between the clinical features of the pancreas, lung, and intestinal disease prominent in CF. (You go girl!) She was also the first to propose that CF was a recessive disease and the first to use pancreatic enzyme replacement to treat affected children. In 1988, the first mutation for CF was discovered, and subsequent research has found over 1,000 different mutations that cause CF. Needless to say, a lot has happened since CF was first identified, and a lot continues to happen.

On April 19th 2016, the Senate Cystic Fibrosis Caucus was formed. The purpose of this group is to raise awareness about CF, advance policies, and support research for this condition.

The field of medicine continues to make great advances against CF, with strides on the screening, pharmaceutical, surgical and personalized medicine fronts. Yet, as expected, medical breakthroughs can also be hugely expensive. Though millions of dollars have been raised, much more is needed. And necessity is the mother of invention (and humor) as parents have turned to innovative ways to raise funds for research. On such concept: the Fancy Physician Pageant.

The internet is full of heartwarming stories of the everyday lives of the patients and families affected by CF. To learn more, visit the CF Foundation website.

 

Share.

About Author

Shannon Wieloch

Shannon Wieloch is a licensed board-certified genetic counselor at Recombine. Her primary responsibility is to provide genetic counseling to Recombine patients. She is also the current co-chair of the National Society of Genetic Counselors Prenatal Special Interest Group. Prior to joining Recombine, Shannon worked in cardiac research at The Children's Hospital of Philadelphia and in prenatal genetic counseling at The Delaware Center for Maternal and Fetal Medicine. She received a dual B.S. in biology and psychology from The University of Pittsburgh and her M.S. in genetic counseling from Arcadia University. Her passion is to provide comprehensive genetic education to medical professionals, patients and the general public.