Cystic fibrosis is a genetic disease that has been expressing itself for centuries. However, it wasn\’t until 1938 that the first clear description of cystic fibrosis was entered into the medical literature by Dr. Dorothy Andersen. There are many earlier reports of incidents from the middle of 17th century who almost certainly had cystic fibrosis, but which were not medically documented.
In 1945 Dr. Andersen and Hodges investigated 47 families from their own practices and 56 from the literature and concluded that this disease had a familial recessive mode of transmission. Treatment in these early years had a strong nutritional emphasis and recommended a high-protein diet large doses of intramuscular vitamin A and a crude pancreatic extract with meals. Dr. Anderson also observed that dietary therapy should be started as early as possible. In these early years the outlook remains very poor with 64% of patients failing to reach the age of seven.
During the 1950s the prognosis was still considered hopeless but a few cystic fibrosis clinics were developed on both sides of the Atlantic. Diagnosis was not entirely clearcut and still relied on a combination of clinical symptoms. Postural drainage was traditional treatment for bronchiectasis and children were started on the treatment and diagnosis was made. In 1955 Dr.Shwachman details one method of management which laid the foundation for modern treatment. This detailed method included early diagnosis, active early treatment and close attention to nutrition. As the decade progressed more antibiotics became available and both pediatricians and parents were becoming familiar with their good and bad effects.
In the beginning of 1960s a number of national cystic fibrosis organizations were formed to bring together a collaborative approach between the medical community and parents of young children. Children with cystic fibrosis continued to go unrecognized. Before World War II there was no national health service and infant and child mortality was already high.
In the 1960s the outlook continued to be terrible with the majority of children dying during infancy or childhood. Although sweat tests had become generally more available the accuracy of the diagnosis had remained poor. Then through the 1960s, technology improved to the point where the diagnosis was considerably improved. Another specific test for cystic fibrosis was develped – a jejunal biopsy. During this biopsy physicians identify the characteristics of duodenal villus atrophy which pointed more specifically to children who had cystic fibrosis.
During this period of time there was some research that indicated mist tent therapy would help to deposit fluid and break up the mucous in the lung. Subsequent studies failed to demonstrate any positive effects and the treatment was discredited.
During the 1970s non-operative treatment for meconium was defined and successful. An x-ray scoring system was published which assisted in the diagnosis of the disease. Although there was some progress in screening the treatments that were available continued to make the outlook poor. In 1979 pseudomonas was reported in North America and is potentially dangerous pathogen was happening with increasing frequency. The severity and fatality of the associated illness in individuals with cystic fibrosis led to a radical change in clinical practice and the social habit of these patients.
Toward the end of the 1970s attitudes began to change as a result improved conventional therapy and hope was apparent with the possibility of controlling the condition. The 1970s was characterized by an increasing interest in nutritional problems as the survival rate only improved. It was during this time that the first double blind nutritional intervention study was completed with children who had cystic fibrosis.
Clinical care in the 1980s began to change dramatically. Diagnosis was able to be made between the 17th and 18th week of pregnancy using DNA markers closely linked to the cystic fibrosis gene. During the 1980s there was a gradual improvement in the treatment and condition of individuals who suffered from cystic fibrosis and this was reflected within improving survival rate. Intravenous antibiotics became the cornerstone of treatment for pseudomonas which eventually affected almost all patients.
It was also during this time that there was an interest in the use of aerosolized antibiotics for individuals who suffered relapses of infection once IV antibiotics were discontinued. It was also in 1985 that the first heart-lung transplant was performed. The results were very remarkable and later double lung transplants became more popular.
During the 1990s physicians continue to be enthusiastic about the treatment of cystic fibrosis following the identification of the cystic fibrosis gene. Research continued throughout the 1990s into gene transfer to effectively insert the normal chain in 20 cells in the respiratory tract. In 1993 a successful viral mediated gene transfer was reported.
This is steady improvement in clinical care has proved increasingly difficult due to financial constraints. If active mucolytic enzymes were developed and there was a renewed interest in the use of hypertonic same lame to clear sputum and improved pulmonary function. New lipase enzymes were developed in 1992 that decrease the number of pills individuals had to take in order to control their digested symptoms.
The route the past five decades research and to the cause and treatment protocol for cystic fibrosis has changed the prognosis from grim to incredibly hopeful. Individuals continue to live into their 30s and 40s with all in the future for improved treatments.
RESOURCES
Cystic Fibrosis Trust: History of Cystic Fibrosis
Stanford University Human Genome: Cystic Fibrosis
National Jewish Health: Cystic Fibrosis History