How did i get Cystic fibrosis?
Everyone inherit traits or characteristics from both of their parents. Hair and ye colour are examples of inherited traits. Traits are transmitted by genes. Genes are tiny structures within cells of the body that are made up of DNA. Genes provide the blueprints they determine the structure and function of cells in the body. Genes are always present in pairs, one inherited from the mother and the other from the father. Cystic fibrosis occurs when a child inherits two copies of the CF gene that are alteed or mutated. People who inherit one or two altered CF genes are known as carriers of the CF gene. It is estimated that 1 in every 20-25 people is a carrier of the CF gene. A person who has one alterd version of the CF gene paired with normal version/copy does not develop the disease or show any symptoms. In order to inherit CF, a person must inherit two alterd CF genes. This can happen only if both parents are carriers. Each time two carriers of one altered gene (1/400 marriages) conceive, there is a 25% chance that two CF genes will be passed on to their child, a 50% chance that their child will not have the disease but will be a carrier and a 25% chance that the child will neither will be a carrier nor have the disease. People with CF are also carries of two altered versions of the CF gene, and they have a 100% chance of passing an altered version of the CF gene on to their children.
WHAT CAUSES CF?
In 1989, Canadian and American scientists working together discovered the gene responsible for the development of symptoms of CF. The gene is on chromosome 7 and codes for a protein called CFTR (cystic fibrosis transmembrane regulator). The effective CFTR is responsible for the abnormally thick and sticky secretions produced by exocrine glands. The discovery of the gene has improved our understanding of CF, which has in turn improved our treatment of the disease. Eventually, it is hoped that CF will be controlled and damage to the lungs and other organs prevented.
THERAPIES FOR THE RESPIRATORY SYSTEM
In order to live, each cell of the body needs to take in oxygen and get rid of carbon dioxide. Thia process is called respiration. Respiration begins when air is taken into the nose and mouth and then passed through the trachea into the lungs. Once in the lungs, the air enters a network of increasingly smaller tubes, the bronchi and bronchioles, which end in millions of small air sacs called alveoli. Oxygen moves across the alveolar wall in order to be taken up by the body. Air moves in and out of the lungs due to the contraction and relaxation of the diaphragm and chest wall, which are controlled by the nervous system.
The lungs and nasal cavities are lined with cells that secrete mucus. The mucus humidifies the air and collects germs and dust particles, which are then easily removed by coughing, sneezing and swallowing. This helps to keep the lungs and nasal passages clear. In CF, however, the mucus is very thick and glue-like and not easily expelled, so that it has a tendency to remain in the lungs and block the breathing passages. Germs collect and multiply in the lungs especially in areas where the thickened mucus is stuck. The CPTR abnormality in CF also makes genes stick to the walls of the bronchioles. The body reacts to this infection by having cells come in to try to kill the germs (inflammation). Unfortunately, the infection usually persists, and the inflammation reaction steadily increases. The inflammation and infection produce scarring of the lung tissue. This damage further reduces the body’s ability to clear the lungs and leads to more severe lung damage and eventually to lung failure.
The main goals in caring for the respiratory system are to clear the lungs of mucus and to control respiratory infections. Airway clarance techniques, antibiotics and anti-inflammatory agents are the main methods used to control respiratory problems and decrease the rate of damage to the lungs.
Physiotherapy may involve a variety of methods used to clear mucus from the breathing passages. The traditional method of physiotherapy in treating CF is postural drainage, vibration and percussion, which are together known as PDVP. This method relies on percussion to dislodge mucus from the breathing passages, postural drainage to take advantage of gravity to move mucus upwards, and vibration to help move mucus from smaller to larger airways so that it can be coughed up.
In addition to PDVP, you may be asked by your physiotherapist to try other airway clearance techniques. The active cycle of breathing techniques involve different types of huffs, usually done in postural drainage positions, to move mucus up in the lungs. Autogenic drainage is a method of controlled breathing done in a sitting position. The positive respiratory pressure mask involves breathing out through a small opening, which is also done in a sitting position
The advantage of above techniques is that, once they are learned, you don’t need anybody to help you with them nor do you need to carry a lot of bulky equipment around with you. This is a great advantage when you are away from home. These techniques also make yoy more aware of what is happening in your lungs and can provide you with important feedback on changes in your condition
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