Cystic Fibrosis

During my life, I have heard many stories about my mother's cousin Jeffrey O' Connell who died from cystic fibrosis in March of 1989. He grew up knowing he would never grow old, yet he fought for life by fighting for every breath and survived a fatal childhood disease. He lived to be thirty-three, young by any standard, but special in terms of battling CF. Most CF victims do not live too teenagers. Jeff was a teacher, tennis player, and most of all a sports enthusiast. The team that turned him on the most was the Celtics. You could of added father to this list but Jeff died in March a few months before his baby was do. Cystic fibrosis is a very hard disease to live with because of the way it affects the victim and the people around the victim.

Cystic Fibrosis is an incurable hereditary disorder that causes the body to secret abnormally thick, sticky, mucus that clogs the pancreas and lungs (Enc). It is one of the most common fatal genetic disorders in the U.S. affecting approximately 30,000 children and adults (Lee). It leads to problems with breathing and digestion, infection, and ultimately death.

There are many symptoms of Cystic Fibrosis. CF causes the body to produce thick secretions that particularly affect the lungs and digestive system. A few symptoms are troublesome cough, repeated chest infections, prolonged diarrhea, and poor weight

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gain (CFT). CF also affects many organs such as the lungs and the digestive system. Infections in the lungs are constant throughout the life of people with CF. The infections destroy lung tissue which ultimately takes the lives of most people with CF. CF also causes problems with the digestive system. It affects the pancreas which makes it hard to digest food and causes malnutrition which leads to poor growth, physical weakness, and delayed puberty.

There are many ways to diagnose a person to see of they have CF. New born testing is when babies are tested at birth using a heel prick blood test. The sweat test is known as the gold standard for more than 40 years because it is the best way to diagnose CF (CFF). The sweat test determines the amount of chloride in the sweat if it is higher than normal those people are believed to have CF (CFF). Antenatal testing determines early on in pregnancy whether a baby will have CF. Carrier testing is a mouthwash test to tell if you are a carrier. Genetic testing is when cells are obtained by gently rubbing the inside of the cheek with a brush, which is used to find the CF gene.

Cystic Fibrosis is caused by a defect in the gene responsible for manufacturing cystic fibrosis called CFTR (Enc). CFTR is a protein that controls the flow of chloride ions into and out of certain cells (Enc). In people without CF, CFTR forms a channel in the plasmas membrane through which chloride ions enter and leave the cells lining the lungs, pancreas, sweat glands, and small intestine (Enc). In people with CF absent CFTR prevents chloride from entering or leaving cells, resulting in production of thick, sticky mucus that clogs ducts or tubes in these organs.

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Children can become affected by CF only if both parents are carriers. A person who is a carrier only has one copy of the gene responsible for CF (ccff). When two carriers decide to have a child there is a 25% chance the child will be born with CF; a 50% chance that the child will not have CF, but will be a carrier; and a 25% chance the child will not have CF, and will not be a carrier (ccff). To understand this more look at the diagram below.

There are also many medications for Cystic Fibrosis. A few major areas that need medications are the lungs and the digestive system. Medications for the lungs are bronchodilator drugs open the airways by relaxing surrounding muscles (CFT). Antibiotics help to treat or control persistent infection which could be in the form of pills, tablets, liquids, and mists that are inhaled (Lee). Steroids reduce inflammation in the airways (CFT). Medication for the digestive system would be enzyme pills which help people with CF gain more energy from the food they eat. There are also nutritional supplements to compensate for ineffective digestion.

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Treatments for cystic fibrosis only slow the damage to the lungs and the effects of the disease. Some treatments consist of dietary administration of vitamins, pancreatin, and antibiotics. Physiotherapy is a way of clearing the thick sticky mucus from the lungs. This consists of banging or thumping certain areas of the chest, loosening the mucus so that it can drain out of the lungs (Lee). Another treatment is aerobic and nonaerobic exercise. Aerobic exercise is a good treatment for people with CF because it moves air through the lungs which makes them able to hold more air and keeps the lungs free of infections. Nonaerobic exercises like weight lifting are good because the heart doesn't have to work as hard. This is important for people with CF because it prevents deterioration of the lungs and improves strength. The last alternative for people that have CF is a lung transplant