Cystic fibrosis


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  • My Twin cousins, Adrianna (on the right) and Kalynn Cole ( on the left ) both have this disease. They were diagnosed at 6 weeks old and were not expected to live past 12. I will tell more about their story toward the end of my presentation once you get a better understanding of how this disease works.
  • There is only 30,000 people in the United States with Cystic Fibrosis and 1,000 babies are diagnosed each year. The most common race that CF occurs in is Caucasians. It occurs 1 in 17,000 African Americans, and 1 in 31,000 Asian American have this disease. 1 in 29 Americans carry the CF gene, but these people do not have the disease. Only 45% of CF patients are 18yrs or older.
  • According to the Cystic Fibrosis Foundation, in 2009, the average expectance was in the mid-30s. Thanks to modern medicine the life expectancy have dramatically increased since 1955.
  • Cystic Fibrosis is a life threatening disease that is inherited from the parents. It affects the way the person can digest and breath. Its gained through a mutated cystic fibrosis trans-membrane conductance regulator gene. There is about 1,400 types of mutated CF genes .The most common mutation is the F508 mutation, this type occurs in about 70% of CF patients. To get cystic fibrosis, both parents have to be carriers of this mutated gene. If ONE parent passes one mutated gene then the child is CF carrier which means they can to give this disease to their children but they don’t have the disease themselves.Aproximately 1 in 31 people in the us are crriers of this gene. If each parent passes a mutated gene then the child has Cystic Fibrosis. CF is usually diagnosed at a very early age.
  • This gene is located on the 7th chromosome of DNA. This section of DNA regulates salt and water movement throughout the body. These gene provides instruction for creating a protein that the body needs to regulate the flow of these substances. The water movement in the body allows the mucus that your body makes to be thin and free-flowing. The mutated gene does not move the salt and water throughout the body correctly so it causes thick mucus that does not flow easily throughout the body.
  • The mucus glands are located in several parts of the body. They give off mucus that lubricates the lungs allowing for easy inhaling and exhaling. In a CF patient the mucus is thick and it clogs the lungs because the mutated CFTR gene does not do its job of moving water around the body. The mucus glad also gives off enzymes that help the pancreas in digestion. since the mucus is not free-flowing throughout the body it settles in the bottom of the lung causing many lung infections. The mucus that settles keeps a warm home for the bacteria to grow. Things that cause these lung infections are organisms that people with out the disease normally don’t have a problem with. These organisms include Aspergillum, Pseudomonas Aeruginosa, and Burkholderiacepacia.Anti-biotics are given to help the infection but sometimes after a while the bacteria gets used to the medicine and resists it causing more infections, then more antibiotics need to be issued. All these lung infections causes the patient to be in and out of the hospital many times through out thier lives. It may also result in permanent damage to the lungs.
  • Pseudomonas aeruginosa is the most common bacteria that affects the lungs of a CF patient. Approximately 60% of all patients will have a lung infection that is caused by this bacteria. This bacteria is in the form of a rod. This bacteria rarely affects healthy tissue in the body. It only affect tissue that is compromised in some way. It can also cause things like urinary tract infections, respiratory system infections, soft tissue infections, bone and joint infections. This bacteria grows easily in the body because of its minimal need for nutrients. It can also resist many anti-biotics which is why a lung infection is very serious in a CF patient.
  • The pancreas secrets enzymes that break down and digest food. The pancreas is very important in the digestive process because it breaks down the food and separates the needed nutrients that they body needs. The thick mucus blocks the pancreas causing the patient to have digestive issues. These issues include poor digestion, abdominal pain, malnutrition, delayed growth, and rapid weight loss.
  • The chloride ions that allow the water to move throughout the body are not doing their job in the body of a CF patient. It does not allow the chloride to flow in and out of the cells properly which causes it to build up in the body. The salt then leaves the body through its pores which makes for salty skin.
  • Since the digestive system of a CF patient is corrupted, the nutrients that the patient needs to be healthy and grow are not absorbed from the food. Since this absorption is not taking place, the patient has trouble growing and gaining weight.
  • Since the airways to the lung are clogged by the mucus build up the patient has breathing issues i.e shortness of breath while playing sports. It also can cause wheezing and continuous coughing. FIND MORE NOTESS
  • The lack of oxygen flowing through the patients body can cause rounding of the finger nails and toe nails, this is a symptom known as clubbing. FIND MORE NOTESSS. Other symptoms include…..
  • or has repeating respiratory infections so usually further testing is to be done one of these tests is the sweat chloride test which has been done for over 40 years. In this test an painless electrical current is given to the forearm to produce sweat. The sweat is then absorbed with a special filter paper and is then examined to determine the amount of chloride. This test can take any where from 30 mins to an hour. The normal sweat chloride content to 10-35 and in a CF patient their content is higher then 60.
  • Another test that is does is the blood test. the doctor will prick the bottom of a baby’s foot to draw the blood. The blood is then tested to check if the pancreas is working the way it is supposed to be.
  • Genetic testing is done to find out what type of CFTR gene is present in the body. A Chest can be done to see that lungs and identify if they are inflamed or scarred.A lung function test measures how your lungs work. It measures the size, how much you are able to breath in and out and how fast, and it also figures out how much oxygen is being delivered to your blood.
  • There is currently no cure for cystic fibrosis. But there is many treatments and medicine that can help the patient breath better. Depending on the patients age, what parts of the body the disease affects, how the child reacts to certain medicines, and where the doctor thinks the disease is going, each CF patient can have different treatment.
  • There are various treatments that help the patient loosen the mucus that is settled in their lungs so that they can cough it up to remove it. One treatment is chest physical therapy or CPT. This is done in a few ways. One way is the percussion treatment. In this treatment a machine is used to tap the back of the child. The repeated tapping by the machine loosens the mucus in the lungs and allows for the patient to cough it up. This treatment can also be done by the childs parent by clapping their back with a cupped hand. The parent usually does it when the child is still an infant.
  • Another form of CPT is using a vest. This vest uses high-frequency airwaves to loosen the mucus that is deep in the lungs. It then pushes this mucus to the higher airways and the patient can cough it up.
  • Running around and doing exercises can also help a child loosen the mucus in their lungs. It might not seem logical because a cystic fibrosis affects your breathing but it helps. It also help with the physical condition of the child which is important so your body is as healthy as it can be. But since the patients sweat is very salty their body will loose mass amounts of salt, so sometimes they have to take salt supplements, or eat a salty diet so they regulate the salt in their body.
  • Antibiotics can be prescribed to the patient to fight their lung disease. This type of medicine can be given orally, inhaled, or given through an IV. An IV is a small tube that is inserted into a vein either in the back of your hand or the inside of your elbow and it injects medicine directly into the blood stream. The oral is given to treat lung infections that aren’t very severe. Inhaled will be given to prevent or treat infections that are cause by Pseudomonas bacteria and other bacteria's. The IV is given when the infection is very severe. Anti-inflammatory medicines are also a way to treat. These reduce the swelling of the lungs.
  • A Bronchodilator is a machine that medicine is put into to breath in. It makes the liquid medicine into a mist and the patient breaths it in. The medicine relaxes the muscles in the airway and this relaxation makes it easier for the patient to breath.
  • Since CF patients loose so much nutrients because the pancreas gets blocked they have to take many pills that will replace what they loose. Multi-vitamins and pancreatic enzymes is mainly what they need to take.
  • The most drastic treatment that can be done to a CF patient is a lung transplant. This is when healthy lungs are taken from a non-CF patient who has recently past away and put into the CF patient so that they have healthy lungs. This surgery is only done when the disease is most severe. For a person with mild CF, the risks that follow the lung transplant are worse then the benefits to get from it. Things such as rejection of the new lungs, infections, and problems of during the surgery are a few things that can go wrong. About 900 transplants are done in the US each year.
  • Getting a lung does not happen right away. You have to be put on a waiting list and then when the a pair of lungs is ready the medical center where the patient was listed, will receive a call that they found a match for them. The wait can be anywhere from weeks to years, and the average wait is around 2 years. While waiting the patient is recommended to stop drinking alcohol, don’t smoke, exercise, take your regular medication and keep a phone with you at all times so the transplant team can become in contact with you immediately.
  • There is a few things that need to be done before the surgery can take place. The doctor at the medical center will reassure that the lungs that were donated, are the proper type for the patient. A physical exam, blood tests, and an electrocardiogram will be done to assure the patient is in proper health for the the surgery. When all of these things are complete, they will take the patient into the operating room and put them under sedation they will also attach an IV.
  • After the patient is put to sleep they are hooked up to many tubes and IV to stay alive. A machine called the heart-lung bypass is used to bypass the heart and lungs and directly send blood to the blood stream to provide the proper oxygen during the surgery. The doctors will then make the incision. This will depend on whether you are getting a single transplant or a double transplant. If you are getting a single, the incision will be made vertically on the side that the lung is being replaced. If you are getting a double the decision will be made horizontally right under the breast area from one side to the other. The doctors will then begin the transplant. They will cut out the unhealthy lungs and replace them with the donor lungs that have been chilled so they are able to be donated. The chilled lungs can only last 6 hours so when the donor lungs are found, the surgery must take place. This surgery for a single transplant can last any where from 4 to 8 hours, and a double can last from 6-12 hours.
  • After the surgery is finished, the patient will be put into ICU, the intensive care unit of the hospital. The ICU is a special part of the hospital that provides constant care to the patients who are very ill. The patient is being monitored 24/7 because their illness or disease is life threatening. The patients blood pressure and pulse will be taken very frequently. The IV will still be in to provide fluids and medicine. A ventilator will also be hooked up to help the patient breath it provides the proper oxygen level to the body. Once your lungs are expanded you will be able to breath on your own. Generally the patient will be given breathing excises to help strengthen the lungs. Once you are moved to a regular room, Slowly you will be able to walk with help and asked to cough so that any fluids that may have entered the lungs can be removed and prevent infections.
  • They were born in ondecember 7th 1987 in Houston Texas six weeks early. They were 18 inches long and weighed 5 pounds 5 oz. The doctors saw no complications when they were born so they were sent home 5 days later. In early januaryKalynn was diagnosed with RSV and was sent to Texas Childrens Hospital. Andrianna joined her 3 days later with the same thing. Andrianna recovered in a few days but that was not he case for kalynn. On Feb 14th They moved to California where my uncle had been transferred for his job. Kalynn was sent to the hospital again and had to have surgery on her esophagus. After this she wasn’t hospitialized for another 10 years.
  • The twins were seen every 6 months at a Cystic Fibrosis Center at Children’s Hospital in Orange County. They had to take anywhere from 2 to 4 EVERYTIME they ate anything so they could get the proper nutrients from their food and help digest fats and proteins. They did the daily aerosol treatments, which is the medicine that is breathed in. When they were 4 they had the chest percussion treatment and when they were 8 they upgraded the vest I spoke about earlier.
  • When they were diagnosed my aunt and uncle were told that they were going to be in the hospital about 3 times a year, and would not attend school on a regular basis, and would probably not go to college. This was certainly no the case for my cousins. They never missed a day of elementarty school because of their illness. And played soccer, baseketball, softball, tennis, and golf. In high school, andrianna played Varsity soccer and tennis and kalynn played varsity tennis. They were honors students and graduated in the top 10% if their class.
  • Andrianna wasn’t as sick as kalynn. She just had to do treatment and take her pills. She was only hospitalized 2 times in her life. Her last one was in 2009.
  • Kalynn is a different story. At 10 her lungs started to detiriate. She would go to the hospital once a year for a few days to get IV then continue the IV at home. She never missed school or practice or any other activities. Her senior year she kept the stats for the football team. On night she left the hospital with a portable oxygen tank to be at the game.By the time she got to college her lungs had 20% capacity. In march 2009 she became very ill and was listed for a double lung transplant and on august 25 2009 she had it. She did well for a little over a year with no treatments, or vests just a lot of pill. then had a major set back November 2010. She was in ICU for about 5 months and in regular care a month. She came home in early May. Every Tuesday and Thursday she has to go to the UCLa medical Center where she had her transplant to do her treatment. The doctors never seen someone as ill as she was survive.
  • For my application I held a 3v3 basketball tournament. In order to put this together I had to go to the activites office and get gym time. I made sign up sheets and handed them out at lunches and 16 teams signed up. Each team was either a number or a letter and the letters stayed at their assigned basket. And the numbers rotated. We determined who won by margin of difference which means the score keepers I had to calulate how many the team won or lost by and all of those scores were added in the end. The 4 teams with the highest score were in the semi finals and the winners of that were in the finals. Some people took it seriously and others just wanted to have fun, which is what I wanted. I just wanted it to be a laid back fun time. Danielle conway, heather smisko, allie touchstone, abbiedemcher, and susievaleri kindly came and helped keep score and Fivandergeest took the pictures. I bought subway gift cards for the winners which were timmyvandergesst, pat stringfield, and ericslawter. Over $200 was raised. Im going to send it to the cystic fibrosis foundation. Overall the night was fun and I think everyone had a good time. I made a viedo with some pictures from the night.
  • For my class activity we are going to draw pictures or make cards for the children with CF at children’s hospital of Philadelphia. It is a nice gesture just to show them that we care about them and we are here to support them.
  • Cystic fibrosis

    1. 1. Cystic Fibrosis<br />Samantha Binck<br />
    2. 2. Thesis<br />Cystic Fibrosis is a life threatening disease that affects thousands of Americans. People need to be aware of what this disease isand how it affects, not only the person who has it, but their families as well. <br />
    3. 3. Personal Relevance<br />
    4. 4. 30,000 Americans<br />
    5. 5. Life Expectancy<br /><br />
    6. 6. How do you get it?<br /><ul><li>Inherited through the CFTR gene</li></ul><br />
    7. 7. cystic fibrosis transmembrane conductance regulator<br /><br />
    8. 8. Mucus Gland<br /><ul><li>Located throughout the body
    9. 9. Easy breathing</li></ul><br />
    10. 10. Pseudomonas aeruginosa<br /><br />
    11. 11. PANCREAS<br /><ul><li>Breaks down food
    12. 12. Digestion problems</li></ul><br />
    13. 13. Symptoms<br /><ul><li>Salty skin</li></ul><br />
    14. 14. Symptoms<br /><ul><li>Not growing</li></li></ul><li>Symptoms<br /><ul><li>Breathing problems</li></li></ul><li>Symptoms<br /><ul><li>Clubbed fingers</li></ul><br />
    15. 15. Testing<br />Sweat Chloride Test<br /><br />
    16. 16. Blood Test<br /><br />
    17. 17. Genetic testing<br />Chest X-Ray<br />Lung Function Test<br /><br /><br /><br />
    18. 18. CURE<br /><br />
    19. 19. Percussion Treatment<br /><br />
    20. 20. Therapy Vest<br /><br />
    21. 21. EXERCISE<br /><br />
    22. 22. Antibiotics<br /><br />
    23. 23. Bronchodilator<br /><br />
    24. 24. Replace nutrients<br /><br />
    25. 25. Lung Transplant<br /><br />
    26. 26. Waiting List<br /><br />
    27. 27. Pre-Surgery <br /><br />
    28. 28. The Surgery<br /><br />
    29. 29. Post Surgery<br /><br />
    30. 30. Andrianna<br />Kalynn<br />
    31. 31.
    32. 32.
    33. 33. Andrianna Cole<br />
    34. 34. Kalynn Cole<br />
    35. 35.
    36. 36.
    37. 37. CLASS ACTIVITY<br /><br />
    38. 38. Works Cited<br />• "Cystic Fibrosis Overview " The Children's Hospital of Philadelphia Web. 7 Jan. 2011. <>.<br /> <br />•"Cystic Fibrosis Symptoms, Causes, and Treatment on" Medicine Net. Web. 3 Feb. 2011. <>.<br /> <br />•” What Is CF?." Cystic Fibrosis Center at Johns Hopkins. Web. 4 Feb. 2011. <>.<br /> <br />•"Cystic Fibrosis Foundation - About the Cystic Fibrosis Foundation." Cystic Fibrosis Foundation - Home. Web. 4 Mar. 2011. <>.<br /> <br />•"Sweat Chloride Test for Cystic Fibrosis Information on" Web. 12 Mar. 2011. <>.<br />"DIGESTIVE SYSTEM." Welcome | Division of Life Sciences, Rutgers University. Web. 17 Mar. 2011. <>.<br />•"Common Lung Infections - Organisms That Cause Lung Infections in Cystic Fibrosis." Cystic Fibrosis - Information About Cystic Fibrosis. Web. 16 Apr. 2011. <>.<br />•"Lung Transplant Surgery." Cleveland Clinic. The Cleveland Clinic. Web. 1 May 2011. <>.<br />•"Intensive Care Unit." ENotes. Web. 6 May 2011. <>.<br />•"What Is an ICU?" WiseGeek. Web. 10 May 2011. <>.<br />Todar, Kenneth. "Pseudomonas." Online Textbook of Bacteriology. Web. 16 May 2011. <>.<br />
    39. 39. Continued…<br />Giddings, Sharon. Genes & Disease: Cystic Fibrosis. New York City: Chelsea House, 2009. Print.<br />Langwith, Jacqueline. Perspectives on Diseases & Disorders: Cystic Fibrosis. Ed. Elizabeth Des Chenes. Farmington Hills: Greenhaven Press, 2009. Print.<br />“Cystic Fibrosis.” WebMD. Healthwise, Incorporated, 23 June 2009. Web. 16 Dec. 2010. a href="" rel="nofollow">‌tc/‌cystic-fibrosis-topic-overview>.<br />ELLYN COUVILLION.  "A second chance *** Cystic fibrosis patient celebrates anniversary of lungpatient. " Advocate  7  Dec. 2010,ProQuest Newsstand, ProQuest. Web.  22 Dec. 2010 <br />Anonymous, . "Portable Device Replaces Ventilator. " USA Today  1 Feb. 2010: Research Library, ProQuest. Web.  16 Feb. 2011.<br />"Cystic Fibrosis; Researchers at University of Parma publish new data on cystic fibrosis. " Electronics Newsweekly  1 Dec. 2010: ProQuest Computing, ProQuest. Web.  16 Feb. 2011.<br />Cole, Georgiana. E-Mail interview. 30 Jan. 2011.<br />
    40. 40. CONCLUSION<br /><br />