1. Cystic Fibrosis Tia Martin Rita Ripley Debbie Fields Heather Dorough Kyle Kopytko University of Phoenix June 28, 2009

2. Introduction

3. History of CF
Cystic Fibrosis is the most fatal genetic disease in the United States. It must be passed to the child from both parents in order for the disease to be present. Cystic fibrosis was first recognized in the 1930’s and was “recognized as a generalized disease and coined the term “mucovisciclosis” (Littlewood, 2002). Since children with CF taste salty due to a high content of sodium chloride in their systems, an old wives tale stated if a person kissed a baby on his or her forehead and it tasted salty, the baby would die. Even though this statement was true at a certain period in history, much advancement was being made in the study, documentation and treatment of this disease in the 1930s and 1940s.
With antibiotics becoming more prevalent in the 1960s there was also “new development in understanding the nutritional problems in CF as well as advancements of CF centers being set to treat children” (North, 2008). The life span of children born with cystic fibrosis during this time period was still short with most dying during “infancy, childhood or adolescence after years of miserable chronic illness” (Littlewood, 2002).
In 1989 the gene for cystic fibrosis was discovered. Prior to this in the 1970s and early 1980s, professionals in the medical field were starting to recognize this disease was treatable. Most treatments consisted of “good nutrition, physical clearance of the airways, exercise and antibiotics” (North, 2008). Most children living with cystic fibrosis in this time period were now living into his or her teens.
These modern times have proven to be the most promising in the care of people with cystic fibrosis. Centers are more widely available and more research has been done to ensure people born with this genetic disease a longer life. Most people can now live into his or her 30’s. “Though many CF patients are reluctant to ever hope for a cure, the idea that science may make CF a disease that is livable if treated rather inevitably fatal is hope enough for the people touched by this disease” (North, 2008)

4. Causes and Treatments
Cystic Fibrosis is an inherited disease in which one gene for CF must be inherited from each parent.
No cure has been found for CF, but there are treatment options. “The goals of treatment are to alleviate symptoms, slow the progress of disease, prevent complications and thereby increase the quality of life for the CF patient” (Alma, 2008). Treatment has come in many different forms throughout the years and has come a long way.
In the 1960s mist tents were used for children to sleep in. These tents helped with the buildup of mucus in the lungs. Physical therapy was also introduced during the 1960s and “parents were taught how to pound on the backs and chests of their CF children to help loosen their mucus and free their airways” (North, 2008). The introduction of nutritional supplements also helped with CF patients being able to digest and absorb food in a better way.
In the 1990s antibiotics which could be inhaled were introduced. Being able to inhale the antibiotics was a big step because of the mucus build up in the lungs. Taken orally the antibiotics cannot do much good. Another step came with the invention of “The Vest.” “The Vest is a machine that vibrates the chest of the CF patient and helps loosen the mucus” (Alma, 2008).
This disease being the most fatal of all genetic diseases, CF has hundreds of mutations. “The severity of the disease is related to particular mutations and the normal gene was cloned but treatment with it was not as successful as hoped. Further research will be necessary before this gene therapy is useful in combating cystic fibrosis” (Hamann, 2007).

5. Data on affected population
30,000 people in the US have CF
1,000 are babies
Life expectancy 30s
Approximately one in 31 people are carriers of the CF gene
Because CF is ca recessive gene, the birth of child with CF is often a surprise. Although 30,000 people in the US are affected with CF, the over-whelming number 1,000 are babies. Studies by the University of Virginia show “mainly Caucasians, who have northern European heredity, although it also occurs in African-American, Asian American and Native Americans.” Approximately one in 31 people are carriers of the gene and they are not affected by the disease and usually do not know they are carriers. There is a eight out of 10 chance of no previous history of CF within the family.

6. Data on affected population
Infants show early signs
Symptoms: diarrhea, greasy stools, persistent cough, poor growth
The University of Virginia reported, “infants born with show the symptoms within the first year, while some children may not show any symptoms until later in life. Signs suspicious of CF and infants having these signs should be tested: diarrhea that does not go away, foul-smelling tools, greasy stools, frequent episodes of wheezing, frequent episodes of pneumonia, persistent cough, skin taste like salt, and poor growth. CF may resemble other illnesses, therefore consulting with a physician is necessary.

7. Data on affected population
Ethnic Background
Risk of CF Mutation
Risk of Child with CF
Caucasian
1 in 29
1 in 3300
Ashkenazi Jewish
Hispanic
1 in 46
1 in
African American
1 in 65
1 in 15,300
Asian
1 in 90
1 in 32,100
According to the University of Virginia the risk of having a mutation in the gene of CF depends on your ethnic background. Testing for the gene can be done from a small blood sample or a cheek swab. Labs will test 30 to 100 total mutations. The detection rate depends on the person ethnic background. Caucasian population is around 90 percent, Jewish 97+ percent, Hispanics 57 percent, African-American 75 percent and Asian 30 percent. Because CF is more common in certain regions the detection rate will vary. Testing is recommended of anyone with a family member affected with CF. (University of VA, 2008)

8. Economic Impact
Cystic fibrosis is the most common life-shortening genetic disorder among white individuals worldwide. Estimates of the costs of medical care have been based on expert opinion rather than observed costs.
The annual cost of medical care in 2009 averaged $18,300 and ranged from $9200 among patients with mild disease to $83,300 among patients with severe disease.
Of total costs:
47% were from hospitalization
18% were from DNase (Pulmozyme)
12% were from clinic visits
10% were from outpatient antibiotics.
When the observed costs were used to estimate the costs of medical care for the entire population of CF patients in the United States, these costs were estimated to be about $814 million per year in
(Cystic Fibrosis Foundation, 2009)
Over an observation period of nine months, the average direct cost for an individual with CF recorded was 35,706 for out-patient and 40,143 for in-patient treatment (+15%). As far as indirect costs are concerned, the losses of production in the national economy recorded for in-patient treatment were 80% higher.
The direct and indirect costs for in-patient CF-therapy are in total higher than for out-patient care. Whether these cost advantages have to be "bought" with lower medical effectiveness needs to be demonstrated by further clinical studies.

9. United States Budget for Cystic Fibrosis
Although the United States’ economy has been on a downward slide, the funding for CF somehow continues to climb. Foundations all across the United States work to make sure families suffering from cystic fibrosis have the financial support and care that they need.

10. Prevention in the Community
Keep children’s immunizations up to date
No SMOKING and avoid secondhand smoke
Use airway clearance techniques
Eat nutritious meals that are high in calories
Have regular checkups
Seek care from specialized CF centers
Cystic fibrosis is a disease that can not be prevented because it is a genetic disorder. As individuals with the disorder of without there are some action than can take place for further complications and possible prevention of more serious complications. We can begin by helping every child has his or her immunization and keeping them up to do. One major issues is smoking. Due to the complications associated with CF the use of cigarettes could cause vey serious complications. We can also help prevention through airway clearing techniques which help to clear the lungs. It is important that each of us receive a nutritious meal which provides us with lots of calories. One very important concept is having regular check ups. With regular checkups the physicians can give us insight on what is to come with the disease or they can make us aware as patients if we may be at risk. Finally, use specialized CF centers. If we use specialized centers the workers at these centers can help with any concerns of questions the patients may have once they receive the diagnosis and treatment from the doctors.

11. Education Resources Books and Other Written Materials-
“Spirit of Lo” An Ordinary Family’s Extraordinary Journey….life’s dance on the edge of mortality
by Terry & Don Detrich
An Introduction to Cystic Fibrosis for Patients and Families by James C. Cunningham, M.D. and Lynn M. Taussig, M.D.
“Now That I Have CF” Information for Men and Women Diagnosed as Adults by the editors of Cystic Fibrosis Australia, national CF site
There are a few books and other materials to help educate families and the public about cystic fibrosis, and more are being written by the people who are directly affected by this disease. One of those families, the Detrich’s, recount their journey in the book “The Spirit of Lo”. This book is about their life with their youngest daughter, who was diagnosed with cystic fibrosis at three months old.This book shares the roller coaster ride that is the life of many patients who suffer with CF, and chronicles the pain and triumph of living each day. It is written in everyday language, and draws the reader into the lives of those they are reading about.
Introduction to CF for patients and families by two doctors is a guide to who, what, when, why and how for patients and families dealing with a new diagnoses of cystic fibrosis. Sponsored by the Cystic Fibrosis foundation and the drug company Axcan Scandipharm this book is used in hospitals to provide people with good foundational knowledge of the disease.
Booklet – Now that I Have CF is written as an educational resource for people who are diagnosed with CF for the first time after they have reached adulthood. It gives in depth information on the disease itself and next steps to expect in treatment and prognosis.

12. Online Education Resources
The healing well website is a medically focused social network and online community for patients and families dealing with chronic illnesses. Here they can find useful information and resources, emotional support from those who are on the same type of journey, and inspiration from those who are living every day to it’s fullest in spite of the disease. Access to chat rooms, forums and the websites presence on facebook, twitter and myspace all serve to keep patients and families connected and communicating.
The official Cystic Fibrosis website for the United States is full of valuable information for patients and families. The latest updates on drug approvals and trials and other developments in treatment, detailed information about the disease itself, interviews with experts in the medical field about cystic fibrosis and social networking capabilities all help continue a larger sense of community within the population of those suffering with CF.
Cell Science is an “international medical journal and A-Z medical directory for health care”. It not only details most recognized major diseases including cystic fibrosis, it also lists hospitals, charities and research institutes that are focused on these diseases.

13. Conclusion Gene therapy Allele-specific therapies
Pharmaceutical approaches
The longevity of persons with CF has increased from little to no hope to living over 30 years. To find a cure for CF is to further the use of therapies in researching the basic defect and how to use the therapies before the patient receives the defective gene. “The Cystic Fibrosis Foundation has taken the lead in encouraging the pharmaceutical and biotechnology industries to turn attention to CF.” (Pamela Davis, 2005) Finding a cure before the birth of the child through extensive research may possibly even eliminate CF within the centennial.

14. References
Detrich, Terry, & Detrich, Don (2003). The Spirit of Lo: An ordinary family’s extraordinary journey (1st ed), Tulsa, Oklahoma, Mind Matters.
Cunningham, James C., Taussig, Lynn M (2003). An introduction to cystic fibrosis for patients and families (5th ed), Bethesda, MD: Cystic Fibrosis Foundation, Birmingham, AL: Axcan Scandipharm Inc.
Palys, B, Palys, J.R., Widerman, E. (2003), “Now that I have CF” Information for men and women diagnosed as adults,Western Australia, Solvay Pharmecueticals.
Alma, L. (2008). Treating Cystic Fibrosis. About.Com. Retrieved June 20, 2009, from
Hamann, B. (2007). Disease: Identification, Prevention and Control. McGraw-Hill. Retrieved
June 20, 2009, from The University of Phoenix, rEsource, Introduction to Health and Disease Trends.
Littlewood, J. (2202). The History of the Development of Cystic Fibrosis Care. The UK CF
Trust. Retrieved June, 23, 2009, from fibrosismedicine.com/htm/docs/CFText/historyof.htm.
North, S. (2008). Cystic Fibrosis: A Brief History of the Disease in the United States. Associated Content. Retrieved June 23, 2009, from Cystic_fibrosis_a_brief_hisotry_of.htm?cat=37.
Cystic Fibrosis Foundation, Economic Impact. Retrieved: June 19, Website:
Images-
Davis, Pamela B., 2005, Cystic Fibrosis Since 1938, Centennial Review, American Journal of Respiratory and Critical Care Medicine, Vol 173