It is devastating to a parent when their child is diagnosed with cystic fibrosis. They may feel guilt because this disease is an inherited medical condition. A parent may not know they are a CF gene carrier. If both parents are carriers there is a 25 percent chance one of their children will be born with this condition. There is a 50 percent chance one or more of their children will be carriers, and a 25 percent chance the child will not be diagnosed with cystic fibrosis.

A disease that affects over 30,000 children and adults in the United States. Many people are carriers and may not know it. The disease affects the mucus producing glands of the body. This disease also affects the respiratory, digestive, and reproductive organs as well as the sweat glands in the body. The normal, thin, liquid lining the passageways to the digestive and respiratory areas of the body becomes blocked when that normal lining turns thick and begins to block the passageways to these parts of the body.

Fibrosis is the most common hereditary disease in Caucasians in the United States. Nearly ten million Caucasians in America are carriers of the mutant gene that causes the disease and are unaware of that fact. Caucasians have a higher risk of getting cystic fibrosis although the disease has been detected in all ethnic groups. Breaking the statistics down so we can understand them is this; one in 31 Americans are carriers of the disease and have no symptoms to identify them as carrying the defective gene.

The lifespan of a cystic fibrosis patient is between 24 and 30 years but with newer technologies and drug treatments many are living longer. New medications and drainage procedures may increase the life span of a child born with this condition. Previously, it was rare for a child with cystic fibrosis to grow to adulthood. The cause of death for life threatening condition patient will normally be respiratory failure. The causes include respiratory tract infections or breathing distress and couples with enlargement of the right side of the heart.

There currently is no cure for this disease. There are treatments that can ease the symptoms of the disease and prolong the life span of a cystic fibrosis patient. Treatments may include antibiotics to fight infection that settles in the bronchial tubes and lungs, daily breathing and respiratory treatment. Patients are urged to chest physiotherapy that can be done manually or with a special machine. Manual chest physiotherapy can be controlled breathing for 30 to 45 minutes. You can also put the patient in a position that allows the mucus to drain from the lungs while the chest or back is clapped and vibrated. This allows the thick mucus to break away from the airways and be passed from the body. This procedure should be done over different parts of the back and chest because the mucus can settle in different areas of the lung. Mechanical devices are also available to perform the same function.

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By: Juliet Taylor

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How do you know if you are at risk of getting cystic fibrosis? It can affect males and females and people from all ethnic groups. The disease is most common in Caucasians. Cystic fibrosis is the most common inherited disease among American Caucasians. Caucasians who have ancestors that came from Northern Europe are most susceptible to getting cystic fibrosis.

Cystic fibrosis is common in Latinos and Native Americans. It is especially prevalent in the Pueblo and Zuni tribes although it is uncertain why they have a higher risk factor. CF is less common in African Americans and Asian Americans. The disease is believed to evolve from the body’s defense against the disease of cholera. That fact has not been scientifically proved.

A human being has 23 pairs of chromosomes that are inherited from parents called DNA. If there is a defective gene it is the number seven gene that will be a mutant. A child cannot get cystic fibrosis unless both parents have the mutant gene. They could become a carrier if they inherit the CF gene from one parent. Carriers do not show any cystic fibrosis symptoms but can pass the gene on to their children. If both parents are carriers there is a 25 percent chance one of their child will have cystic fibrosis.

There are many mutations of the cystic fibrosis gene. Some will have more severe symptoms than others born with this condition. Scientists estimate that as many as one of every 3600 Caucasian babies born in the United States this year will be born with CF. In comparison, there will be one of every 17,000 African American babies born with the disease, and only one of every 90,000 Asian babies will be born with this disease.

Scientists estimate that about twelve million Americans are carries of the mutant CF gene. If you know there is CF in your family, you may want to have genetic testing to see if you or your spouse is a carrier for the disease. This may affect your decision about starting or adding to your family. Testing can be done on parents, family members, siblings, and on unborn or recently born children.

CF is a disease that demands daily care including pulmonary therapy, a special diet high in fats and vitamin supplements to prevent dehydration and proper growth. Special oral doses of enzymes for the pancreas may be required as well as an antibiotic to combat lung infections. A child may be given a mucus-thinning drug to keep their mucus thin and flowing.

New research is taking place on a new drug that goes into the system through the inhalation process and delivers normal copies of the mutant gene number seven. This new gene therapy is undergoing clinical trials in many different health and medical centers throughout the United States. Lung disease is common in most patients with this condition causing disability and a shorter life span.

By: Juliet Taylor

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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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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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Cystic fibrosis, which affects 30,000 American children and adults, is a multisystem disease caused by a defective gene. Presently only symptomatic management is possible, but there are very promising gene-therapy trials under way.

In the respiratory system the thin mucus lining becomes thick and sticky. In cystic fibrosis management, the primary treatment of the system is to thin or clear this mucus. Bronco dilators like albuterol are used to clear the clogged airways. Mucus thinning drugs delivered by aerosol, like pulmozyme, are helpful. The most effective way of clearing this mucus is by mechanically dislodging it. Clapping on the chest and back, with the head tilted on the edge of a table, is quite effective. There is an electrical clapper that does the job safely. There is an electrical inflatable vest that vibrates and dislodges the mucus. Infection is an ever-present risk with cystic fibrosis patients. Regular shots for pneumonia and influenza are very important. Bacterial infection is fought with newer antibiotics like TOBY, which delivers the medicine directly into airways with aerosols.

Because of the blocked ducts of the pancreas and liver, the enzymes and bile do not reach the intestine. Though the patient eats normally or even in excess, the fats and proteins are not digested. So the cystic fibrosis patient needs to have the enzymes supplemented with oral pancreatic enzymes. There is also the need to take vitamins, especially the fat-soluble ones. If lung function is completely damaged, the only alternative would be lung transplantation. This would involve many factors, like the availability of a donor and the patient’s present health, prior to undergoing major surgery.

The Cystic Fibrosis Foundation has 115 centers all over America, and provides guidelines and advice. They support many studies to find gene therapy to cure cystic fibrosis. The target is to add normal genes to the cells of the airways to prevent further damage. Biotech laboratories produce healthy genes, which need to be delivered to the appropriate cells. These vectors, or delivery systems, are the key areas of research to combat cystic fibrosis. One method that is actively pursued is to modify the common cold virus to carry the healthy genes into the correct cells. On another track, the DNA molecules are compacted to their minimum size and delivered directly to the relevant cells without the need for a carrier such as a virus. This technology is called PLAS min.

As this gene therapy experiments are at an advanced stage, the cystic fibrosis sufferers can hope for a permanent cure in the near future.

By: Kent Pinkerton

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