For centuries, the fear of having a “salty child” — or one with skin that was abnormally briny — was a common one.
That’s because many of these children were unable to properly regulate chloride levels within their cells, which led them to eventually suffer from persistent lung infections, pneumonia and bronchitis, shortness of breath, and stunted growth. Most rarely survived past childhood.
It wasn’t until 1938 that this disorder was properly identified. That’s when Dr. Dorothy H. Andersen, an assistant attending pediatrician and assistant pathologist at what was then known as Babies Hospital (now NewYork-Presbyterian Morgan Stanley Children’s Hospital), discovered and named cystic fibrosis (CF), a genetic disorder that causes a thick, sticky mucus to build up in the lungs, pancreas and other organs, leading to life-threatening breathing and digestive problems. This discovery led to subsequent research that identified the basic mechanism of the disease, which allowed for development of diagnostic testing, and ultimately led to earlier treatment.
Today, the average life span of an individual with the disease is 44 years, according to the Cystic Fibrosis Foundation.
“Back in the 1700s, there was an expression, ‘Woe to the child with the salty kiss, for he will soon die,’” recalls Dr. Emily DiMango, director of the Gunnar Esiason Adult Cystic Fibrosis and Lung Program at NewYork-Presbyterian/Columbia University Irving Medical Center and a professor of medicine at Columbia University Vagelos College of Physicians and Surgeons. “We think that probably referred to the salty skin of babies with cystic fibrosis.
“Dorothy Andersen was very integral to the story of cystic fibrosis, because she was the one who identified it as a distinct disease. Before that, these children were classified as having celiac disease,” Dr. DiMango continues. “I think it’s remarkable that a woman made these tremendous strides in 1938, and I would imagine it was hard for her work to be accepted in that era.”
It was during a routine autopsy on a child who was thought to have had celiac disease that Dr. Andersen noticed a lesion in the pancreas. Intrigued, she searched autopsy records and medical literature, and discovered a discrete disease pattern. She called this pattern cystic fibrosis.
“Cystic fibrosis affects the lungs, the pancreas, and the liver, but the lungs and the pancreas particularly,” says Dr. Joshua R. Sonett, chief of general thoracic surgery and director of the Price Family Center for Comprehensive Chest Care at NewYork-Presbyterian/Columbia University Irving Medical Center. “When Dr. Andersen saw these abnormalities in the pancreas, she then went into further studies and correlated it to disease in the lung — thus coining and then studying cystic fibrosis for the pancreas.”