In 1938, Dr. Dorothy Hansine Andersen described a new disease that caused the deaths of children she treated. She called it cystic fibrosis (CF).
Effective treatments have extended life expectancy, and the future looks brighter for individuals with CF today.
Here’s an explanation of the history of CF — identification, diagnosis, and treatment.
CF is a genetic condition that occurs due to structural changes in certain proteins in the body. These proteins usually manage how cells, tissues, and glands regulate sweat and mucus production. These changes cause the mucus to be thick and sticky. That sticky mucus builds up, leading to organ damage, infection, and inflammation.
Symptoms of CF include:
In 1938, Andersen discovered CF when she identified a new condition that caused children to die and recognized it was different from celiac disease. She called it CF of the pancreas because of the cysts and scars she saw in the pancreas‘ of children who died from this new illness.
Over the next 80 years, many discoveries led to revolutionary treatments for cystic fibrosis and other diseases.
In 1948, during a heat wave in New York City, pediatrician Paul di Sant’Agnese discovered a fivefold excess of sodium and chloride in the sweat of infants with CF — this continued even after the heat wave ended. This discovery would lead to diagnostic tests and treatments still used today.
Experts developed a standardized sweat test in 1959 based on his discovery and other research. This new test allowed milder cases of CF to be identifiable and broadened the scope of research beyond CF as a mucus disorder. Doctors use a version of the sweat test today to help identify children with CF.
Cystic fibrosis care centers
At the same time, in 1955, the first center opened in the United States to provide care specifically for children with CF and focus on learning more about the disease.
These centers developed the standards of care, attention to nutrition, airway clearance, and lung infection treatment, which are still the foundations of CF care today. The lifespans of children with CF increased. In 1965, more centers opened in Europe.
Chloride and sodium connection
In 1980, a University of North Carolina team discovered that CF disease related to chloride and sodium ions within CF cells. With this discovery, they understood how these ions caused illness almost 10 years before experts identified the CF gene.
CFTR gene identified
In 1989, a breakthrough happened when a Canadian team led by Dr. Lap-Chee Tsui discovered the CFTR gene. This was the first time experts identified a specific gene for an individual disease. This led to the start of gene therapy as a research field.
CFTR mutations discovered
Over the next 30 years, experts identified 2,000 different mutations in the CFTR gene, leading to new therapies and medications to help treat people with CF.
In the 2000s, experts reinvigorated gene therapy research by discovering “stop genes” in the CFTR gene. These genes stop proteins from forming, opening new areas of gene research into CF.
Currently, research into new medications and therapies is ongoing. The lifespan of people with CT has gone from 6 months to 30 years and longer.
The outlook for people with CF has improved dramatically due to advances in diagnosis and treatment. Today, people with the disease routinely live into their 30s, and some live into their 40s and 50s.
There’s still no cure for CF, and lung function can steadily decline for individuals with CF. They can experience other organ damage too. People with CF still experience serious symptoms, such as difficulty breathing, infections, and pain.
In 1938, Andersen discovered a new disease and called it CF. In the following 84 years, experts made breakthroughs in gene therapy, CF treatment, and extending the life of people with CF.
They developed and opened specialized centers worldwide for individuals with CF, and the life expectancy of people with CF has gone from months to 30 years or more.