Cystic fibrosis can be diagnosed as early as at birth. In such cases the diagnosis is aided by the initial presentation of meconium, which is the black colored, tar-like contents of the bowels, which in cases of cystic fibrosis creates a blockage in the bowel of the newborn and in some cases surgery may be necessary to correct the problem If diagnosis is not sought by this obvious presenting problem, some children and even adults can live for years without symptoms being severe enough to even question cystic fibrosis is present even though it is inherited at birth. There are however situations where symptoms may begin to appear and begin to increase in frequency and severity, however diagnosis can be clouded by the fact that symptoms are similar to those found in other less serious conditions.

Cystic fibrosis may be questioned by increased prevalence of chest infections which in some cases require hospitalization and intravenous antibiotics, that twinned with reports of excessive “salty” sweating and the appearance of oily stools may indicate that cystic fibrosis is present and formal testing is then required. The “gold standard” test for cystic fibrosis is a test known as the “sweat test” and this crudely measures the amount of sodium concentrated in a sample of the patients sweat. Sweat on the skins surface usually contains very little sodium chloride however the sweat in the case of a person with cystic fibrosis contains 2 to 5 times more sodium chloride than the average person who does not have the condition.

A substance called “Pilocarpine” is placed on the arm of the patient and this encourages the body to produce excess amounts of sweat. Electrodes are placed over gauze and a mild electrical current is then used to generate the sweating process. The sweat is subsequently collected on a piece of gauze and the volume of salt crystals is then measured using a laboratory technique. When the sweat test is performed on babies and small children it may need to be repeated as these patients tend to sweat less and satisfactory results may not be gained from one test alone.

Results of the sweat test will either be high, normal or in some cases borderline. If the sodium levels are high this is a reasonable indicator of cystic fibrosis however the test is often repeated to be sure. In cases where results are borderline the test too will be repeated. Where sodium levels are within normal limits it can be concluded that cystic fibrosis is not present. In cases where an infant may have had a normal sweat test near the time of birth, but goes on to indicate symptoms of cystic fibrosis, a sweat test will be repeated later on and in some cases positive results are shown. In the event of this it is likely that the sodium sample collected in the earlier test was not sufficient to make a diagnosis.

By: Michael Morales

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My 4 year old son has had breathing problems and been hospitalized twice for croup, pneumonia once and constantly has a deep cough. His father is a carrier for cystic fibrosis and im not. Should he be tested? His half brother has been diagnosed with CF.

A short film on the what cystic fibrosis does to the body.

My name is Katy and I am 23 years old. I just wanted to spread awareness about CF. Many people have heard of the disease but don’t know exactly what it is about. Hoping that more awareness will lead to increased research and hopefully a cure in the near future!!

this is a nice little video that a friend put together as a personal project because his daughter has CF.

Cystic fibrosis is a medical condition that starts in early childhood, sometimes as early as from the time of birth. A defective gene causes the problem and there is no known cure, though there are some promising experiments going on towards gene therapy. The medical profession understands the symptomatic treatment well and the average lifespan of persons with cystic fibrosis is increasing.

Nature’s mechanism for filtering out the dust and microorganisms people breathe in is to secrete thin mucus in the airways and the lungs, and clear it through the nose or the digestive tract. For the person with cystic fibrosis, this mucus, which normally is thin and slippery, becomes thick and sticky. Other affected and thickened secretions are sweat, digestive juices and the reproductive system.

Since the lungs are congested, the pulmonary capacity drops. The blocked airways cause severe breathing difficulties and asthma-like wheezing. The digestive juices from the pancreas and liver do not reach the intestine, as the ducts get blocked. The fats and proteins are not digested. Though the patient eats normally, maybe even in excess, he is undernourished and is under weight. Fat-soluble vitamins become deficient.

There are approximately ten million symptomless carriers of the defective cystic fibrosis gene in America. A person needs to inherit two defective cystic fibrosis genes to be afflicted with cystic fibrosis. Every time two carriers produce a child, the chances are 25% that the child may be affected with cystic fibrosis, 50% that the child may be a carrier and 25% that the child may be a non-carrier.

To diagnose cystic fibrosis, the laboratory carries out a sweat test. The treatment is only symptomatic. We cannot at this stage make the secretions thin, but can neutralize the effects of thickened secretions by regular treatment and management. A high-fat diet with enzyme and vitamin supplements helps the patient with nutrition.

A strict lifestyle regime to prevent complications is very important. Drinking plenty of liquid loosens the mucus. Regular exercise, as much as possible, keeps the respiratory system clear and improves the cardiovascular system. The cystic fibrosis patient must avoid smoky or dusty places. Hand cleaning is a simple but very effective step to prevent infection.

Few cystic fibrosis patients lived beyond their teens in the past, but thanks to improved management, 40% of the 30,000 Americans with cystic fibrosis are over 18 and many are into their 30s and 40s.

By: Kent Pinkerton

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10 minute documentary final project about a day in the life of a ten year old girl with Cystic Fibrosis

It is estimated that one in every 3,200 infants in the United States alone is suffering from a genetic disorder known as cystic fibrosis. According to health experts, more than 12 million of the American population is carrying the gene that is susceptible to the disease but most of them do not manifest symptoms and full effects of the ailment. Elsewhere, this sickness has been found to be most common among Caucasians who hail from Northern Europe, where one in every 25 people is found to be carrying the cystic fibrosis gene.

As mentioned, cystic fibrosis is a pronounced genetic disorder that affects the body’s secretory glands. It is technically considered a very rare disease, but it is at the same time considered as among the most common genetic ailment that is life-threatening. The defective gene is affecting the movement of sodium in cells, especially those that are found in the pancreas and in the lungs. There is a resulting imbalance that prompts the formation of abnormally sticky and thick mucus. In turn, the mucus produced is unnecessarily affecting digestion, breathing, and several other important organ functions.

When affecting the lungs, cystic fibrosis produces mucus that clogs the breathing tubes in the organ. This clogging serves as an ideal breeding environment for bacteria, which causes serious infections. When affecting the pancreas, the condition prompts the production of sticky mucus that blocks the release of digestive enzymes. This unnecessary and unlikely occurrence leads to fatty stools, nutritional problems, and poor digestion.

The most common symptom is salty tasting skin, which is caused by release of sweat that contains excessive amount of sodium and chloride (which when combined comprises the common table salt). The sufferer also experiences frequent lung infections, mineral imbalance, fatty and greasy stool, shortness of breath, frequent occurrence of chronic cough, and poor growth in children. Male adults could also suffer from a resulting infertility.

If a patient is not subjected to proper tests, cystic fibrosis could be mistaken for any other sickness of the lungs or the digestive system. Different diagnosis procedures could be used to determine presence of the disease, including sweat testing, genetic testing, and newborn screening in infants. Treatment is readily available, but it is surely is a collective or family effort. Aside from the moral and emotional support, doctors are giving them instructions about how they could work together in helping any sufferer/patient of cystic fibrosis especially the type that affects the lungs.

By: Didier De Coster

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All the reading I’ve done on cystic fibrosis says it is a genetic disease. However, I have a lot of the symptoms of it and was wondering if it could become evident later in life? Thanks.

Cystic fibrosis is a life-threatening disease caused by a defective gene and affecting about 30,000 children in America. There is no cure for it so far, but there are lots of promising experiments and clinical studies going on to find a genetic therapy to cure cystic fibrosis.

Humans transmit the genetic code to the next generation through DNA, containing 23 pairs of chromosomes. The seventh chromosome contains the defective gene that causes cystic fibrosis. There are over ten million Americans who this defective gene without having the disease. When both parents are carriers there is a 25% chance that the child will have a recessive gene; that is, the child has two copies of the defective gene from both parents. This gene signals the epithelial cells to produce cystic fibrosis trans-membrane conductance regulator (cystic fibrosisTR). It is a bad protein found in the digestive system, skin and reproductive system of cystic fibrosis patients.

When the cystic fibrosisTR is not normal, the regulation of salt through the membranes becomes defective. This results in the secretions of the lining such as mucus, digestive juices and sweat, becoming thick and sticky.

The respiratory system secretes thin and slippery mucus to clear away the foreign bodies and microorganisms that invade the system. In cystic fibrosis patients this mucus, thick and sticky, not only fails to clean the system but also blocks the lungs and airways and creates a life-threatening problem with the respiratory system. As the microorganisms are not cleared there are serious infections, like bronchitis, pneumonia and influenza. So a cystic fibrosis patient has to take care of his respiratory system constantly, with bronchodilators, electrical clappers and electrical inflatable vest vibrators. Newer antibiotics control the infections to a good extent.

In the digestive system the ducts between the pancreas and intestine and between the liver and intestine are blocked. Due to the shortage of enzymes and bile, the cystic fibrosis patient is unable to digest fats and proteins. He becomes malnourished, underweight and weak. Enzyme and vitamin supplements take care of the problem to an extent. In the reproductive system the duct between the testes and prostate get blocked, and so a majority of cystic fibrosis patients are sterile.

By: Kent Pinkerton

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