| CF Continued |
| In people with Cystic Fibrosis the mucus blocks the enzymes from leaving the pancreas. Without the enzymes "large amounts of undigested food pass into the large intestine, causing gas and swelling in the abdomen," (Robinson 2001). The lack of nutrients from food make people with this disease have stunted growth with no significant weight gain though they have large appetites. Because of their large appetites most parents believe that their children are only good eaters (Burger 2002). In fact the large appetite is due to the fact that the bodies of people with Cystic Fibrosis are starving because they are not receiving enough nutrients. However, there are some children with Cystic Fibrosis that are of average height and weight which causes unconcern in parents if they have not noticed any other symptoms. The pancreas is also involved in another CF-associated disease, Diabetes. In CF, scarring of the pancreas occurs which leads to poor function of special pancreatic cells called islets. Islets produce insulin which is responsible for the regulation of blood sugar levels. Because of this, some people with CF can't rid their bodies of excess amounts of sugar that accumulates in their bloodstreams and become Type 1 Diabetics. Type 1 Diabetics are dependent on insulin injections to help lower their blood sugar (CFcare.com). One of the more moderate, but very telling, symptoms in Cystic Fibrosis involves the sweat glands. Because the CFTR gene helps to regulate the amount of salt in a person's sweat, people with CF have sweat that is saltier than normal. "Parents usually notcie that their infants tast salty when they kiss them." (Robinson 1999). To compensate for the extra salt, older children and adults eat salty foods; however infants and smaller children are unable to compensate on their own and very often suffer from heat exhaustion, especially in the summer (Robinson 1999). The least severe of the symptoms involves the reproductive system, targeting males specifically. Ninety-eight percent of males with CF are sterile because of the absence or blockage of the vas deferens, the tube that carries sperm from the testis to the penis. Most females are able to reproduce, though they have a harder time getting pregnant because the same thick mucus that coats the respiratory system coats the uterus and ovaries. There are many ways to test for and to diagnose Cystic Fibrosis. The most popular of these is the Sweat Test because it is easy, inexpensive, painless and accurate. In the sweat test, a sweat producing drug called pilocarpine is rubbed onto a patch of skin, usually on the forearm. A small electrical current is then applied to the area because it makes the skin absorb the pilocarpine. A piece of guaze is then placed over the area and wrapped in plastic for 30 minutes. The guaze is then tested for it's salt content. Someone with Cystic Fibrosis will have a salt content that is one and a half to two times larger than normal. A normal sweat test reading is from 15-30 mEq/LCI-, a sweat reading that indicates a person has Cystic Fibrosis is anywhere above 60 mEq/LCI-. Because babies, especially newborns, do not have active sweat glands the Sweat Test can be difficult to administer. For newborns, the IRT (immunoreactive trypsinogen test) can be used instead. To perform this test blood is drawn 2-3 days after birth and analyzed for a protein called trypsinogen. The reason that doctors look for Trypsinogen is because Trypsinogen is produced by the pancreas and is elevated in babies with Cystic Fibrosis. The test is used as a screening tool to identify the infants that need further testing to confirm the diagnosis the further testing is usually a confirmation sweat test when they become older. Other diagnostic tests include a chest X-ray and lung function tests which can show respiratory complications that are specific to Cystic Fibrosis. Analyzing stool samples can show if there are any digestive problems and fetal genetic testing can identify about 90% of carriers before there they are born. The fetal testing is especially helpful to the parents because they will have time to prepare themselves for the taxing side effects of Cystic Fibrosis, physically, emotionally and mentally. Genetic testing is offered to all couples expecting a baby or still planning if they are going to become pregnant, especially if there is a family history of the disease or carriers of the defective gene. A carrier of the disease has only one defective CFTR gene and shows no symptoms. Cystic Fibrosis is an incurible disease. However, treatment has improved considerably in the last fifty years. A major form of treatment is nutritionally based. People with Cystic Fibrosis need to eat a well-balanced diet high in calories, protein and fat, and accompanied by vitamins and pancreatic enzymes to digest their food. Because of the defective absorption of nutrients, people with CF need to eat about 30% more food than somebody without the disease. Some people cannot absorb enough nutrients even with the pancreatic enzymes. For people who cannot absorb enough nutrition with the enzyme supplements, tube feeding is suggested. A tube is inserted through the nose, abdomen, or intestines directly into the stomach, and then nutrients are passed through it. It can also be taken out during the day to allow the person to eat normally. A feeding tube can also be an advantage because nutrition can be given at any time, even when a person is sleeping, which gives a better chance at meeting the growth and weight needs. Another important part of treatment is maintaing the health of the lungs. When treatment first began for the lungs a therapy known as chest physiotherapy (CPT) was used. It included a steady thumping rythm on the walls of the chest and back to target different parts of the lungs, two or more times a day. Now they have developed a vest that does the thumps. The vest fills up with air that keeps a constant rythm, something not possible beforehand. This is especially helpful to people who want to live on their own, they won't need someone constantly there to perform their therapy. The CPT helps to loosen th mucus in the lungs and to stimulate the coughing up of the loosened mucus. Several forms of antibiotics are used to help treat and prevent infections. They are given through a vein, by mouth or in a mist that is inhaled using a nebulizer. One of these drugs that is taken daily is Pulmozyme. It reduces the number of lung infections and improves the function of the lungs. A common inhaled antibiotic is TOBI (tobramycin solution for inhalation). TOBI improves lung function, reduces the number of hospital stays, and most importantly, can be delivered in concentrated doses, which means more of the medicine and less of the additives, like water, directly to the site fo the lung infection. The newest treatment and the best hope for a cure is Gene Therapy. The goal of Gene Therapy is to insert working copies of the genes into cells that have the defective ones. Because Cystic Fibrosis occurs from a defective gene, Gene Therapy holds the best hope for a cure because it will correct the defective gene. Gene Therapy uses an adeno-associated virus to deliver the corrected CFTR gene into lung cells. An adeno-associated virus is a virus that can't reproduce itself, but needs a host cell to inject it's DNA into in order to multiply.(Ramsey2000) There are already clinical trials being done at John Hopkins and Florida Universities. The goal is to be able to administer Gene Therapy through an inhaled mist like the mediciine that people with CF already take. With the advances in treatment the life span for People with CF, or PWCF, has improved dramatically. In the 1600's when a mother kissed her baby on the head and the child's skin tasted salty, she knew that the child would die before their second birthday. Now with the advances in medicine, PWCF are expected to live into their 30's and 40's. A part of treating CF is preventing it. Even though Cystic Fibrosis is an incurible disease as of now, there are many ways that the disease can be prevented. One way is to test for the presence of the pair of mutated CFTR genes. This kind of testing is usually recommended for families who fit the criteria for Cystic Fibrosis. Either there is a history of CF carriers in the family, the disease itself or the family hails from northern Europe or are Caucasian. If the test for Cystic Fibrosis on the fetus is positive, couples have the choice of ending the pregnancy. However, many couples use the positive prenatal test as a way to prepare themselves for the challenges they will face having a child with Cystic Fibrosis. This will include long and frequent hospital stays, a strict treatment schedule, and the possibility of death at an early age. Another way to prevent Cystic Fibrosis is to have oneself and the spouse tested before marriage or before you plan on becoming pregnant. |
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