Cystic Fibrosis


Student 5 and Student 6

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Background Information
Cystic Fibrosis is a hereditary disorder characterized by lung congestion, infection and malabsorption of nutrients in the pancreas. Cystic fibrosis is the most common cause of chronic lung disease in children and young adults. It is considered the most fatal hereditary disorder affecting typically the Caucasian ethnicity in the U.S. Cystic fibrosis is a disease that causes mucus to become thick and sticky. This glue-like mucus builds up and causes problems in the body's organs, especially the lungs and the pancreas.

Cystic fibrosis patients can have serious breathing problems and/or lung disease. They can also have problems with nutrition, digestion, growth, and development. There is no cure for cystic fibrosis and the disease generally gets worse over time. The life expectancy for people with cystic fibrosis has been increasing over the past 40 years. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s or longer, giving hope to these patients and their families.

Biology of the Disease
Cystic fibrosis is a genetic disorder and a child must inherit a specific gene from both parents to acquire cystic fibrosis. Most people who comprise cystic fibrosis have signs of it when they are children. In the U.S., some states routinely screen newborn babies for cystic fibrosis. Screening tests look for a certain health problem before any symptoms become visible. If your child has a positive newborn screening test or symptoms of cystic fibrosis, your doctor will organize a sweat test to see how much salt is in your child's sweat. People with cystic fibrosis have sweat that contains a large amount of salt higher than normal. Most of the time, two abnormal sweat tests will prove the diagnosis.

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Symptoms and Treatment
Symptoms:
The symptoms of cystic fibrosis can vary. Some children may show symptoms at birth, others may not develop symptoms for weeks, months, or even years. Severity of symptoms can varies, with some children showing mild digestive and respiratory problems and others displaying severe food-absorption problems
and life-threatening respiratory complications.

The most common symptoms of cystic fibrosis are:
-Salty-tasting skin, which parents note when they kiss an affected infant, for example
-Persistent coughing, wheezing, or bouts of pneumonia or sinusitis.
-Progressive difficulty breathing
-Excessive appetite but poor weight gain
-Bulky, smelly, greasy bowel movements

Treatment:
Respiratory therapy: Respiratory therapy refers to any treatment that slows down lung damage and improves breathing.
Digestive therapy: is another important part of initial treatment. This therapy works to replace certain digestive enzymes, to make sure the body absorbs all the vitamins and minerals it needs, and to prevent or treat intestinal blockages.
Antibiotics: medicines that kill bacteria that cause infections-are often used to treat cystic fibrosis. Some
antibiotics may be prescribed to help prevent infections.

Diagnostic Testing
*the picture shows a 1:2:1 ratio.
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Case A Description
As Sharon Brown browsed the local newspaper, she noticed the story about the five-year old boy with cystic fibrosis who lives on the next block. The article was mainly a human interest story about how the family was coping. There also was some background information about the disease and its inheritance patterns, including the statistics indicating that approximately 1 in 18 people in this part of Minnesota carried a cystic fibrosis mutation.
Sharon is two months pregnant. She realizes that she and her husband, Bob, should have been tested for the cystic fibrosis (CF) mutation since they each have some family history of the disease, but they really hadn’t expected to have a child so soon. She discusses this with her physician during her check-up the next day, and together they decide to test Sharon and Bob for a mutation in linked to the CF gene. They also decide to test the developing fetus. Two other families in the same town who also are in the first trimester of a pregnancy, Jill and Mike Jones and Carol and Ron Smith, also decide to be tested after reading the article.

Case A Testing results
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Case A Statement to person in case
Brown Family (1st DNA results): After looking at the DNA results, Bob is homozygous or “normal” and does not carry the cystic fibrosis gene. Carol is heterozygous meaning that she carries the gene but she doesn't have the disease. Carol did pass on the mutated gene to the baby, but since Bob is normal, the baby is heterozygous normal. This means the baby carries the gene but does not have the disease.

Jones Family (2nd DNA results): The DNA results have concluded that Mike and Jill are both heterozygous normal. Which means that both of you carry the gene but neither of you experience the disease. Unfortunately, you both have forwarded on the mutated gene and the baby does have cystic fibrosis. There
are many different types of treatments available, and information and guidance is available to assist you in preparation for a child with cystic fibrosis.

Smith Family (3rd DNA results): After reviewing the DNA results, we can conclude that Ron and Carol are both heterozygous normal. This means that you both carry the gene but neither of you has the disease. Thankfully, you did not pass on the mutated gene to the baby. The baby is in fact healthy and is
homozygous normal.
*the picture under diagnostic testing illustrates how a child could receive genes from their parents.

Case B description
Lynda and Jim are expecting their first child. Recently, however, they learn that Lynda’s aunt died of CF and Jim’s uncle died of CF. They are worried that they might be carriers for the disease and pass cystic fibrosis on to their unborn child. They learn about a procedure which can determine whether they are
carriers. They also learn about a procedure called amniocentesis which can detect if their unborn child has CF or is a carrier. However, amniocentesis is a very risky procedure. Jim and Lynda ultimately decide that they first want to be tested to see if they are carriers for the disease. If they learn that they both are carriers, they would like to go through with the amniocentesis to see if their child is affected.

Case B testing results
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Case B statement to persons in case
After looking at the DNA results, Jim and Lynda are both heterozygous normal. This means that both of you carry the gene but neither of you will encounter the disease. Unfortunately, you equally have passed on the mutated gene to your baby and the baby will have cystic fibrosis. With our deepest compassion, we do have lots of information and guidance that can help prepare you in understanding and parenting a child with
cystic fibrosis.

Case C description
The pre-marriage counseling session Carl and Maggie are having with Pastor Frank is not going at all as they had expected it to. After some of the anticipated discussion of relationship issues, the conversation turns to family planning. When both Carl and Maggie say they want to have children, Pastor Frank, instead of giving advice on how to properly rear children, begins to talk about genetic testing for Cystic Fibrosis! It turns out that Pastor Frank and his wife had two children affected with CF who died in their early teens. Because of the relatively high frequency of CF carriers and his opposition to abortion, Pastor Frank believes that all couples should be tested for the CF gene before getting married. Carl and Maggie are not sure they share Pastor Frank’s beliefs but decide to go along with being tested.

Case C testing results
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Case C statement to persons in case
After looking at the DNA results we have concluded that Carl and Maggie are both heterozygous normal (as depicted in the picture above). This means that you are carriers of the gene but neither of you experience the disease. This means is there is a 25% possibility that your child could have cystic fibrosis. However, there is a 25% possibility your child could be completely normal with no chance of ever passing on the gene. There is a 50% possibility that a child could be a carrier for the gene, but would not have the disease, and live just like you.You can be prepared if your child had the disease. We have lots of information on cystic fibrosis including symptoms and treatments to look at. There is also testing during the pregnancy where it can determine the genotype of the fetus.(The diagram below depicts a 1:2:1 ratio.)
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Additional Information
-Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT) is the non-profit drug discovery and development affiliate of the Cystic Fibrosis Foundation. CFFT supports and governs activities related to cystic fibrosis (CF) drug discovery through the many stages of drug development and clinical evaluation.

-The CF Foundation provides support to fund CFFT's operations, specifically the Therapeutics Development Program. Sound investment by the Foundation in cutting edge science has built an extensive base of knowledge about this disease. Some of these ideas have already led to innovative new therapies now in the Drug Development Pipeline.

-Liv's HOME RUN For A Cure 2008Please join us for the sixth annual Liv's Home Run For A Cure and see our Chicago Cubs take on the Pittsburgh Pirates on Saturday, April 19, 2008. This private party will take place on THE ROOF of the newly renovated Beyond the Ivy, Inc. located at 1010 West Waveland Avenue Chicago, Illinois.

-Funding: In addition to the RDP award, the Center was the recipient, in 2004, of a Core Center grant in CF from the NIH (P30 entitled, “Basic and Clinical Studies of Cystic Fibrosis”). Two such Centers were awarded nationally. The CF Research Center is directed by Raymond A. Frizzell, Ph.D., with extensive
interactions with clinical colleagues and co-Directors, Drs. Joseph Pilewski and Jay Kolls. The NIH Center supports pilot research projects and core facilities. The P30 award criterion was a research base of existing R01 grants awarded to Center investigators, which its Cores would support and extend. The current Center is housed in the Department of Cell Biology and Physiology, 3rd floor BST South, in the Adult Pulmonary Division of the Department of Medicine, 6th floor MUH, and in the Pediatric Pulmonary Division at the Children’s Hospital of Pittsburgh.

-Research: The Center’s research efforts focus on several areas relevant to the understanding and treatment of CF: basic studies of the function, protein interactions, trafficking and processing of the CF gene product, CFTR; understanding the infection-inflammation issues that compromise the function of CF airways; the development of new therapies and diagnostic approaches for treating CF, and participation of Center investigators in clinical studies. Our funding mechanisms allow the Center to encourage interactions between investigators with long-standing interests and accomplishments in CF research and to bring new investigators into the CF field.

Resources
http://children.webmd.com/tc/cystic-fibrosis-treatment-overview
http://children.webmd.com/tc/cystic-fibrosis-topic-overview
Video: http://www.webmd.com/video/managing-cystic-fibrosis-online
http://www.nytimes.com/imagepages/2007/08/01/health/adam/18135Cysticfibrosis.html
http://children.webmd.com/tc/cystic-fibrosis-when-to-call-a-doctor
http://www.livforacure.org/
http://www.cbp.pitt.edu/centers/cfrc.html
http://www.genome.gov/10001213
http://www.righthealth.com/Health/Testing%20For%20Cystic%20Fibrosis-s?lid=yhoo-ads-sb-0032276518
http://healthlink.mcw.edu/article/1031002233.html
http://www.med.umich.edu/1libr/yourchild/chronic.htm
http://www.uams.edu/pediatrics/cf/CF_in_school.asp