What is Cystic Fibrosis?

Cystic Fibrosis -the lung disease of children, adolescents and young adults – is the most common incurable hereditary disease in the United States. It accounts for the great majority of patients with progressive, chronic pulmonary disease, and is one of the most researched, studied and battled disorders of the human body.

In 1936, a Swiss pediatrician, Dr. Guido Fanconi, first described the disease now known as Cystic Fibrosis, but it was not until 1938 that Dr. Dorothy Andersen of Babies Hospital in New York assembled complete data.

Cystic Fibrosis is an inborn error in metabolism which occurs once in every 1,500 newborns. It affects the exocrine, or outward secreting glands, specifically those secreting sweat, tears, saliva and mucus. The abnormal mucous secretion is the most serious of the complications, resulting in clogged lungs, and interference of breathing, allowing infections to thrive. The mucus also blocks the flow of enzymes from the pancreas, interfering with normal digestion.

In 1955, a group of parents whose children suffered from Cystic Fibrosis founded the National Cystic Fibrosis Research Foundation with the initial objectives of identifying the underlying cause of Cystic Fibrosis and providing exemplary care for all children with the disease.

In 1961 the Foundation began setting up a network of 117 Cystic Fibrosis Centers, many of which are associated with hospitals and medical schools where research and teaching are conducted, as well as diagnosis and treatment. In 1969 the Foundation broadened its scope to include other serious lung diseases. The Foundation is working not only to cure the disease, but to educate the public as to its symptoms and the efforts being made to prolong and improve the lives of patients. Every year of research and study has resulted in the adding of another year of life for Cystic Fibrosis sufferers.

One out of every 20 persons in the United States is a carrier of recessive cystic fibrosis genes. That is about 11 million persons. The chances of a child being born with cystic fibrosis is one in four if the parents have the recessive gene; the odds of being born a carrier are about two in four.

Research into cystic fibrosis uses almost as high a percentage of donations as research into heart disease and cancer. Last year CF raised $7 million. Eighty-one per cent of the funds went into research, medical care, clinical fellowships, public and professional information and education, and community services. Fund raising costs took only 12 per cent, and administration seven per cent.

One of the largest Cystic Fibrosis centers is located at the Dallas Children’s Medical Center. Approximately 250 Cystic Fibrosis children are treated at the center, along with an additional 100 other children who suffer from asthma or other lung diseases. An estimated 10,000 children are treated at the other 116 CF centers, along with 16,000 others who suffer from some form of lung disease.

The chief symptom of cystic fibrosis is a thick, sticky mucus clogging the lungs and airways, creating breathing difficulties, high susceptibility to infection and lung damage. The mucus may also interfere with digestive processes by preventing the flow of enzymes from the pancreas into the small intestine, causing malabsorption of food.

Alert signs of cystic fibrosis may be recurrent wheezing, persistent coughing, excessive mucus, pneumonia more than once, excessive appetite but poor weight gain, clubbing (enlargement of fingertips), salty taste of the skin, and persistent, bulky diarrhea.

A simple “sweat test” for measuringthe salt content in the sweat is the easiest method of diagnosing cystic fibrosis.The earlier the child is diagnosed andtreated, the better the chances for improved health, stable lung condition andprolonged life. Diagnosis in infancy,whenever possible, is strongly recommended.