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Facts About Cystic Fibrosis

 What is Cystic Fibrosis?
Cystic Fibrosis (CF) is the most common fatal genetic disease among Caucasians. It affects many organ systems of the
body, primarily the respiratory and digestive systems.

People with CF produce abnormally thick mucous which causes obstruction of the airways along with frequent infections.
Repeated infections leads to permanent lung damage and eventually causes death from progressive airway obstruction.

In the digestive system, thick mucous secretions prevent pancreatic enzymes from reaching the small intestines where
they are needed to digest food. This can cause malabsorption of nutrients and thus some children with CF appear small
in stature and can suffer malnutrition. If untreated, malnutrition can result in serious consequences despite the large amount
of food eaten.

The need for long-term and often expensive therapy results because there are many other complications that can occur as
the disease progresses.

The incidence of CF is approximately 1 in 2000 births. The average life expectancy is 35 years although there are many
people with CF now in their 30's and 40's. Not so long ago, children with CF were not expected to reach their teens.

As better methods of treating CF are discovered, life expectancy improves and many recent CF births are expected to
survive into their 40's or longer.


What Causes CF?
CF is knovvn as a recessive genetic disease which means that both parents must be carriers to have a child affected with
CF. A carrier does not have CF but does carry one CF gene. At the time of conception, a child inherits one set of genes
from each parent, to have CF. If only one parent carries the CF gene, the children may be carriers but will not have CF.

When both parents are carriers, the odds are one-in-four that a child will have CF. There is a two-in-four chance a child
will be a carrier, and a one-in-four chance a child will neither be a carrier nor have CF.

The defective gene responsible for CF is called CFTR, or Cystic Fibrosis Transmembrane Conductance Regulator. The
most common defect is known as Δ F508 (delta 508). This defect is present in 70% of people with CF although many
other mutations (well over 1200) have been identified.


Is There a Test to Detect CF Carriers?
Yes. Recent advances in gene research and the identification of the CF gene makes it possible to diagnose CF carriers.
This involves a blood test which is sent to a specialized laboratory and analyzed for the 16 most common CF gene
mutations.

Although there are well over 1200 mutations identified, the most common is F508 which is found in approximately 96%
of the "carrier" population. No other mutation is found in more than 4% of the 'carrier' population with most found in under
1% of the "carrier" population.

The test has a high degree of accuracy but is not 100% reliable.  It is usually quite expensive but some insurance
companies cover the cost so it is best to check with your insurance carrier before proceeding. The test is not
recommended as a general screening test but is usually reserved for families with a history of CF based on physician
consultation.

It is also possible to detect the presence of CF in an unborn child, but this is generally reserved for cases in which both
parents are known carriers. This, too, is done in conjunction with genetic counseling and physician recommendation.


What are Some Early Symptoms of CF?
CF has been called "the great masquerader" because its symptoms can be similar to other disorders such as asthma. The
type and severity of symptoms often vary from person to person as does the age when they first appear. Some early
symptoms include:

  • excessively salty sweat
  •  frequent or persistent cough
  •  frequent or persistent respiratory infections
  •  large, loose, clay-colored greasy stools
  •  failure to thrive or delayed growth
  •  large appetite or lack of appetite

About 10% of CF infants have what is called a meconiumileus or intestinal blockage at birth or shortly after birth. In
young children, the presence of nasal polyps can also alert the physician that CF may be present.

People suspected of having CF are given a "sweat test" which measures the salt content of sweat and is almost 100%
effective in diagnosing CF. The "sweat test" is a simple, painless, non-invasive procedure.


Why Do CF Symptoms Vary in Severity?
Just as every person is different, CF can affect each person differently. Some patients may have very few symptoms
and may not be diagnosed until their pre-teens or older. Others develop symptoms and complications early in life and
experience progressive deterioration in health.

The reasons for the differences in severity are not always known but may be related to such things as the genetic defect
itself, age at diagnosis, treatment compliance, inattention to nutritional needs as well as other genetic influences such as
the person's immune response.


How is CF Treated?
At present there is no cure for CF and treatment is aimed at treating the symptoms and preventing complications.
Current treatments include strict attention to growth and nutritional well being. This is done by assessing the degree of
malabsorption, attending to growth curves, using pancreatic enzymes to aid digestion, and using nutritional supplements
along with a well-rounded high calorie diet.

Respiratory therapy is of great importance to help clear secretions from the airways, prevent infection, and decrease
lung damage. This includes manual CPT (chest percussion therapy) and mechanical devices such as nebulizers,
percussors, flutter valves, and percussion  vests to loosen secretions. In conjunction with this, medications
(such as pulmozyme) to thin secretions and dilate the bronchi are used in an effort to loosen secretions and ease
clearing.

CF researchers are investigating ways to replace the defective gene in the lungs and ultimately find a cure. Although
the human gene therapy research is encouraging, the hope for a cure or long term beneficial treatment is probably many
years away.

Currently the key to long-term survival in CF is the use of aggressive treatment of both nutritional deficiencies and
bacterial infections. This is an ongoing process even when things are going well. The emphasis is on maintaining optimal
health and preventing complications.


Myths, Misconceptions, and General Information
CF is not contagious. The only way to "get" CF is to be born with it.

CF does not affect mental function or intelligence, and children with CF do not have to "live in a bubble" or be treated
as invalids.

Although prone to lung infections, people with CF should be encouraged to live a so-called normal life attending school
and socializing with friends, etc. General precautions should be taken to avoid prolonged exposure to people who have
colds, the flu, or other infections.

Psycho-social development is another important aspect of living with CF. People with CF, especially children, should be
encouraged to be as independent as possible, self-disciplined, and knowledgeable about the disease.

 


Pennsylvania Cystic Fibrosis Inc • P.O. Box 29 • Mifflinburg, PA 17844 • 1-570-374-2568 • E-mail: bobderr@ptd.net
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