Cystic Fibrosis Care Charity Doctor

What is Cystic Fibrosis?

Cystic Fibrosis (CF) is one of the most common life shortening chronic fatal genetic diseases affecting around 10,000 children and young adults in the UK. It affects the lungs and digestive system, making it difficult to breathe and digest food. Complications increase with age requiring ever increasing levels of care, treatment and support. The average life expectancy is in the late 30’s. There is no cure.

With your help we can give those living with Cystic Fibrosis a better life.

 Cystic Fibrosis causes various effects on the body, but mainly affects the digestive system and lungs. The degree of cystic fibrosis involvement differs from person to person. However, the persistence and ongoing infection in the lungs, with destruction of lungs and loss of lung function, eventually causes death in the majority of people who have cystic fibrosis.

Typical complications caused by cystic fibrosis are difficulty in digesting fats and proteins; vitamin deficiencies due to loss of pancreatic enzymes; and progressive loss of lung function.

There are around 10,000 people in the UK with Cystic Fibrosis. 5 babies are born each week with CF and sadly 2 people die from the disease. 1 in 25 of us carries the faulty CF gene which is around 2 million people.

 

 Causes of Cystic Fibrosis

Cystic Fibrosis is a genetic disease that occurs when a child inherits two abnormal genes, one from each parent. Approximately, one in 25 people in the UK carry an abnormal version of the gene responsible for cystic fibrosis. Carriers do not have cystic fibrosis, nor do they exhibit any of the symptoms of the disease.

When two parents who are carriers have a child, there is a 25 percent chance that the child will be born with cystic fibrosis; there is also a 50 percent chance that the child will be a carrier; and a 25 percent chance that the child will neither be a carrier nor have cystic fibrosis.

 

Symptoms of Cystic Fibrosis

Cystic Fibrosis Care Charity DNA Gene Cystic Fibrosis is a multi-system disorder that produces a variety of symptoms including:

  • Persistent cough with productive thick mucous
  • Wheezing and shortness of breath
  • Frequent chest infections, which may include pneumonia
  • Bowel disturbances, such as intestinal obstruction or frequent, oily stools
  • Weight loss or failure to gain weight despite possible increased appetite
  • Salty tasting sweat
  • Infertility (men) and decreased fertility (women)

 Diagnosing Cystic Fibrosis

How is cystic fibrosis diagnosed?

Screening test

All newborn babies in the UK are now screened for Cystic Fibrosis. A small heel prick blood test is taken about the sixth day after birth. This can detect a chemical called immunoreactive trypsinogen which is high in babies with Cystic Fibrosis. If it is high then a sweat test and genetic test can be done to confirm the diagnosis. Screening is considered important because the earlier the diagnosis is made, the sooner treatment can begin which improves the outlook (prognosis).

Sweat test

A doctor may arrange a sweat test if he or she suspects Cystic Fibrosis from the symptoms. This test measures the amount of salt (sodium and chloride) in skin sweat. People with cystic fibrosis have an abnormally high salt level in sweat.

Genetic test

A genetic test can confirm the diagnosis. Some cells are either scraped from the inside of the cheek or taken from a blood test. These can be tested to detect the cystic fibrosis gene.