Part A Cystic Fibrosis: What it is and the significance it holds
Cystic Fibrosis (CF) is the most common genetic disease in America. Once called a childhood disease, with the median survival age of eight years, CF has become less of a mystery to the medical world and the life expectancy has raised to nearly thirty years. Most cases of CF are diagnosed in infancy. However, some may have rnilder symptoms and go undiagnosed into adulthood. This disease is caused by an inherited genetic defect. Approximately I in 23 people in the United States carry at least one form of the defective gene which makes it the single most common genetic defect of its severity in the country. Currently, nearly 40,000 people in the United States have CF. (CF-web, 1999)
Cystic Fibrosis occurs when the exocrine glands of the body fail to produce normal enzymes and create an abundance of mucus. The lungs, pancreas, sweat glands and digestive tract are affected. Other affected organs and passageways may include the liver, gallbladder, and the sinuses. (Trent 1997)
There are a wide variety of signs and symptoms of CF. People who have CF may exhibit chronic productive cough, very salty sweat, frequent respiratory infections, frequent sinus infections, bowel blockage which may cause intestinal obstruction, poor weight gain, finger clubbing and severe asthma-like symptoms (Trent, 1997). Overall, these people suffer from chronic lung problems and digestive disorders. The lungs of people with cystic fibrosis become covered with sticky mucus, which is hard to remove and therefore promotes infection by bacteria. Many people with CF require frequent hospitalizations and the continuous use of antibiotics (CF-web, 1999).
The cause of Cystic Fibrosis was a mystery for many years, but recent advances in biology have made the cause more clear. Humans have a gene encoded in their DNA which manufactures a special protein known as CFTR, Cystic Fibrosis Transmembrane Conductance Regulator. This protein controls the flow of chloride ions across the cell membrane. Each gene is made up of two alleles. A single correctly encoded allele is adequate for the normal production of CFTR. However, it is when a person has two defective CFTR alleles that they actually have Cystic Fibrosis. Those persons who have only a single defective allele are called carriers. (Cystic-L, 1996)
The CFTR gene is located on chromosome 7. Cystic Fibrosis is caused by a defect in this gene, which codes for a sodium and chloride transporter found on the surface of the cells that line the lungs and other organs. Hundreds of mutations can be found in this gene, all of which result in the defective transport of sodium and chloride by epithelial cells. The severity of the symptoms of CF is directly related to the characteristics of the particular mutations that have been inherited by the individual sufferer. (NCBI, 1999)
Cystic Fibrosis is inherited as an autosomal recessive trait. The disease is transmitted through both people suffering from cystic fibrosis and from people who are mere carriers of the gene. Determination of the gene becomes more complicated when dealing with the carrier frequency. CF carriers have no clinical or biochemical abnormalities (Korf 1996). The probabilities of a couple producing a child with CF vary with the parents' genetic makeup. For example, if one parent has CF and the other is not a carrier, there is a 0% chance that the child will have CF, and 100% chance that the child will be a carrier. If one parent has CF and the other is a carrier, there's a 50/50 chance between the child being either a carrier or will have CF. Lastly, if both parents are carriers, there's a 25% chance that the child will have CF, a 50% chance that the child will be a carrier, and a 25% chance that the child will neither have CF nor be a carrier. (Cystic-L, 1996)
All that is known about Cystic Fibrosis is relatively new information. It was in only 1989 that the CFTR gene was found by Dr. Lap-Chee Tsui in a Toronto hospital. Since then, significant progress has been made. In 1990, researchers were able to make the normal counterpart to the CF gene and used it to correct human CF cells in lab dishes, which triggered the beginning of gene therapy in treating this disease. Since then, new technology was developed to produce normal CFTR protein, and this protein effectively treated damaged CF cells in lab dishes, which could lead to protein therapy as an approach to treating CF. Furthermore, new drugs have also been developed for the treatment of CF. in 1993, Pulmosyme, a mucus-thinning drug, was the first CF exclusive drug approved by the FDA in thirty years. Since then, TOBI (tobramycin solution for inhalation) has also been approved. These antibiotics have drastically reduced the number or respiratory infections and improved the lung function in children suffering from CF. (CFF, 1999)
Most recently, researchers have discovered a potential new treatment for CF using docosahexanoic acid, or DHA. This new treatment is based on patients taking doses of DHA, which is a fatty-acid that CF patients have a detrimentally low amount of naturally in their system. DHA is important in the regulation of normal cell function in the lungs. In a study with CF-affected mice, DHA therapy suppressed inflammation of the lungs. Researchers hope to soon be able to perform clinical studies in order to some day be able to develop DHA supplements for Cystic Fibrosis sufferers. (CFF, 1999)
Treatments such as these and greater research into a disease that was once a mystery, may unlock the key researchers have been looking for. Once considered a children's disease, people are living longer, healthier lives. The outlook for those bom with Cystic Fibrosis has brightened over the past few decades. As research and awareness progresses, perhaps the future is even brighter.
Part B: Cystic Fibrosis: What it is and the significance it holds for me
Cystic Fibrosis (CF) is the most common genetic disease in America. A fatal disease, it affects many infants, children, and young adults in this country. The disease affects the lungs, clogging them with a sticky mucus that severely and irreversibly damages the airways. The result is frequent severe respiratory infections. Twenty years ago, CF patients were not expected to live beyond childhood, yet today, the average life expectancy is almost thirty. (CFUSA, 1999)
Although, awareness increases with each passing day, many people do not know, or at least fully understand, what Cystic Fibrosis means. Perhaps it's the people who are most affected by this disease that really know what it entails. News headlines and textbooks can only tell you so much. It's how all of this affects people that p,,ive us a true vision of what this disease means.
Chelsea Marie Carter is a vivacious little four-year-old girl with curly blond locks, and a contagious smile. She's strong willed and energetic, maybe too energetic. If you didn't know her, she'd appear to be a very normal healthy child. But Chelsea, my niece, is one of the 40,000 people in this country living with Cystic Fibrosis.
Chelsea was bom on August 17, 1995 to my sister, Denise Millen Carter, and Jonathan Carter. She was 16 weeks premature. She was on oxygen for the first three months of her life. By the time she was one, she had been in the hospital thirteen times. She had trouble breathing, and it was originally thought that these problems were the effect of her premature birth. It was when she was 18 months old that a sweat test, used to measure chloride content, showed that she was positive for Cystic Fibrosis.
So, what exactly does this mean to Chelsea? Symptoms that occur include trouble breathing, spitting up mucus, bowel troubles, and chronic asthma. A lot of times she says she has a "stuffy nose." She has seen a lot of hospitals in her life. However, as she is increasing the amount of therapy she gets at home, those visits have become more infrequent. She has an oxygen concentrator at home, in case she has trouble breathing. Occasionally, she receives steroids to fight off upper lung infections. She also uses a nebulizor, which is often used for asthma sufferers, and receives antibiotics to ward off any unwanted diseases. The common cold is much more severe to a child with Cystic Fibrosis then other children. Since her lungs are. ziready weak, a cold or bout with pneumonia could be devastating.
Her mother is all too aware of this possibility. She has battled with the knowledge of what this disease means. She remembers her reaction to finding out that Chelsea was CF positive as a horrifying thought that she might outlive her daughter. She said, "You try not to think about it. Sometimes, when she's having a bad day, it's harder, because you get reminded, but you always have to have hope. Chelsea's only four and so much can happen by the time she's in her twenties. I just hope that as she gets older, that her hope prevails (Carter, 1999)."
Cystic Fibrosis is an autosomal recessive trait (Cystic-L, 1996). This means that both parents must have some form of Cystic Fibrosis in order to have a child with CF. Both of Chelsea's parents were carriers of the CF gene. Couples such as Denise and Jonathan, have a 25% chance of having another child with CF. Chelsea has a brother, Joseph, who does not have Cystic Fibrosis. Currently however, Denise is pregnant with another child. Aware of the circumstances, many parents may want to know if the unborn child will have cystic fibrosis. This raises questions of whether or not people should have the ability to do prenatal testing to find out if their child will be affected by a lethal disease such as Cystic Fibrosis, in order to have the option to then terminate the pregnancy. Denise said, "It's hard. And I can see why some may not want to go through all that this disease ent0s, but there's also a great reward. It's still your child, and I can't, see giving that up (Carter 1999)."
Prenatal testing for Cystic Fibrosis is possible through chorionic villus sampling. This test is also used for other genetic diseases, especially those autosomal dominant disorders, yet it is still applicable for recessively inherited disorders such as CF. Although this test is highly accurate, it is not a guarantee. This test is done through doctors studying a linked marker gene, and can only assure the probability that the child will or will not have CF. (Korf 1996)
On the moral side, I feel that parents with the CF carrier should have the right to this kind of testing. Perhaps to brace them for the birth of their child, or perhaps to allow them to make a conscious decision whether or not to terminate the pregnancy. I would never trade Chelsea for the world, but if I could keep a child from going through what she has, and will, experience in her lifetime, I would not be averse to choosing abortion as an alternative.
However, the future is looking brighter as the medical world searches for a cure for Cystic Fibrosis. New treatments, such as a DHA treatment are in the beginning stages of clinical study. Furthermore, in lab studies, CF affected genes have been effectively treated by large quantities of normal CFTR protein, which is the mutated gene responsible for CF. (CFF, 1999)
Cystic Fibrosis used to be the "unknown child killer." Today, greater research has opened up the doorway to a heightened public awareness. There are many organizations available to educate people about Cystic Fibrosis, perhaps the largest being the Cystic Fibrosis Foundation. This group was established in 1955 and its goals include the development of a cure and the improvement of the quality of life for those with the disease. The CF Foundation supports more than 100 CF care centers nationwide, which give specialized treatment for people with CF and their families. Furthermore, it supplies grant money to scientists conducting CF research (CFF, 1999). Most CF research has been done through generous donations. Most recently, the Cystic Fibrosis Organization has announced the single largest contribution ever received in its history: a $20 million grant awarded by the Bill and Melinda Gates Foundation. This money will be used to support the CF Foundation's innovative Therapeutics Development Program, which will enable scientists to adapt technology to the screening of thousands of compounds as potential new drugs for the treatment of CF (Esiason, 1999).
For the Carter family, and many more like them, there are many support groups available for the exchange of information and comforting thoughts. Organizations such as The Cystic Fibrosis Family Network Support Group serve the connnunity through maintaining a platform where CF sufferers and their families can interact with others that have been touched by this horrible disease (WVU, 1998).
The trials of living with CF are especially hard for the children patients. One such community event that has been developed in dealing with this is Camp Funshine. This summer camp is designed to provide a fun, safe environment in which kids with Cystic Fibrosis can talk openly about themselves and their disease and receive care for their needs in a supportive atmosphere. The camp holds charity events to minimize the cost of this service for the families. Camp Funshine has been successfully running and growing since 1994 (Camp Funshine, 1999).
Perhaps one day, Chelsea will be attending Camp Funshine, due to the community support that is surrounding this venture. And perhaps one day, Chelsea will be undergoing genetic therapy for the treatment of her disease, thanks to the ongoing studies that surround CF. Maybe even one day, Chelsea will be cured, as the result of the dedication of the researchers in this genetic disease. Regardless of the outcome, the future looks bright for her. Just twenty years ago, the scientific world didn't know where to begin in treating this childhood disease. Today, they've come so far. And for that, my family will be forever grateful.
"About Cystic Fibrosis," The Cystic Fibrosis Web Organization, 1999; www.cf-web.org
Molecular Medicine, R.J. Trent, 1997.
"What is CF?" Cystic-L Organization, 1996; www2.dal.ca/distsite.frank/cf-basic.html
Human Genetics: A problem based approach, Bruce Korf, 1996
"The Human Gene Map," The National Center for Biotechnology Information (NCBI), 1999; www.ncbi.nlm.nih.gov
"Facts about Cystic Fibrosis," The Cystic Fibrosis Foundation, 1999; www.cff.org
Part B
"CF Central," CFUSA, 1999; www.cfusa.org
Interview, Denise M. Carter, November 1999
"Cystic Fibrosis News," The Boomer Esiason Foundation, 1999; www.esiason.org
"Living with Cystic Fibrosis (pamphlet)," West Virginia University Hospital, 1998
"Welcome to Camp Funshine," Camp Funshine, 1999; www.home.att.net/~CampFunshine
*Works from Part A, repeated in Part B
"What is CF?" Cystic-L Organization, 1996; www2.dal.ca/distsite.frank/cf-basic.ht"
Human Genetics: A problem based approach, Bruce Korf, 1996
"Facts about Cystic Fibrosis," The Cystic Fibrosis Foundation, 1999; www.cff.org