Bibliography :)

Post 1:

• Oak Ridge National Laboratory. Web. 7 Mar. 2011. <http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genecounseling/shtml>.

Post 2:

• "Cystic Fibrosis." Lab Tests Online. Web. 7 Mar. 2011. http://www.labtestsonline.org/understanding/conditions/cystic_fibrosis.html.
• "Cystic Fibrosis." Netdoctor. Web. 3 Mar. 2011. <http://www.netdoctor.co.uk/diseases/facts/cysticfibrosis.htm>.

Post 3:

• "Types of Genetic Diseases." Children's Hospital for the King's Daughters. Web. 1 Mar. 2011. <http://www.chkd.com/HealthLibrary/content.aspx?pageid=P02505>.

Post 4:

• "Cystic Fibrosis." Lab Tests Online. Web. 2 Mar. 2011. http://labtestsonline.org/understanding/condidtions/cystic_fibrosis.html

Post 5-9:

• "What Are Genetic Disorders." Learn. Genetics. Web. 5 Mar. 2011. <http://learn.genetics.utah.edu/units/disorders/whataregd/>.

Post 10:

• "Cystic Fibrosis." Kids Health. Web. 13 Mar. 2011. <http://kidshealth.org/kid/health_problems/heart/cystic-fibrosis.html>.

Post 11:

• "The Limitations, Assumptions and Consequences to a Cure for Cystic Fibrosis." Write Work. Web. 13 Mar. 2011. <http://www.writework.com/essay/limitations-assumptions-and-consequences-cure-cystic-fibro>.

Post 12:

• On post :)

Post 13:

• "Frequently Asked Questions." Cystic Fibrosis Foundation. Web. 13 Mar. 2011. <http://www.cff.org/AboutCF/Faqs/>.

How possible is it that a cure will be found?

             Scientist are not sure when a cure for Cystic Fibrosis will be found.  Although, they do think that there will be one.  This is because of all of the new technology with gene therapy and drugs and everything else that are already helping people with Cystic Fibrosis live into adulthood.  With that I would say there is a very good possibility that a cure will be found to cure Cystic Fibrosis.

What are some organizations that can help a famiy cope with a child's disorder(web links)?

• Canadian Cystic Fibrosis Foundation
• Cystic Fibrosis Foundation
• Cystic Fibrosis Research, Inc. (CFRI)
• Karen's Climb Foundation
• Pennsylvania Cystic Fibrosis, Inc.
• Reaching Out Foundation
• St. Louis Second Wind Transplant Association

What limitations does the person have?

       Now a day, there aren’t as many limitations to a person with Cystic Fibrosis.  Although sometimes when doing a physical activity it can get hard for them to breathe so they have to sit out for a little.  But, other than this Cystic Fibrosis patients often don’t have many limitations in there day to day life.

What is everyday life like? What is the quality of life?

                 Someone that has Cystic Fibrosis often has many things during a regular day that they have to deal with.  Many wake up and have to have someone clap them on the chest and back for at least 20 minutes, sometimes longer.  This breaks up the mucous in their chest to help them breathe easier.  Many that have Cystic Fibrosis cough a lot and have to keep something with them in case they cough up mucous and need to spit it out.  Whenever they eat usually they have to take some medicine to help them digest their food and to get all of the proteins that they need to help fight Cystic Fibrosis.  Then at night when they are about to go to sleep they have to be again clapped on their chest and back for at least 20 minutes, sometimes longer, to break up the mucous to help them breathe better when they are sleeping.

                The quality of life for a person with Cystic Fibrosis differs from person to person, depending on how severe their form is.  Although the quality is not great, like a person that doesn’t have to disease, it usually is still not too bad if you are still healthy and are able to do everything that you want to do.  For others it is bad because they are in a hospital or cannot do what they wish to.   

How can the disease be treated?

Cystic Fibrosis is a disease that can be treated but not cured.  There are about 4 ways that you can do this.  The first treatment is inhaled antibiotics that kill the bacteria that cause lung infections.  The next treatment is bronchodilators (Also used by people with asthma), which helps to keep the patient’s air ways open.  Then there is chest therapy, where a patient is repeatedly hit on the back to break up the mucous in their chest.  And then last method of treatment is gene therapy which I currently in clinical trial.  In gene therapy healthy CFTR is out into the patient’s lung cells to correct the defective genes. 

What is the life expectancy of someone with disease?

When a person has Cystic Fibrosis their lungs are clogged and are repeatedly infected.  Therefore, the lung cells don’t last as long as they should.  Because of this people affected by this disease usually only live to be slightly more than 30 years old, with modern technology.

What are the physical symptoms of the disease?

With every disease that a person has, pretty much every one of them has some kind of physical symptoms.  A person with Cystic Fibrosis experiences various symptoms.  These symptoms are coughing, wheezing, respiratory illness, weight loss, salty-tasting skin, and greasy stools.  The good thing about these symptoms is that they can be treated to make them less aggressive. 

How is the disease diagnosed?

Cystic Fibrosis is in a way a very “easy” disease to diagnose.  Now, I am not saying that it his easy but I am saying there are about 3 ways that can lead doctors to be able to diagnose the disease.  The first way that doctors can detect Cystic Fibrosis is in newborns.  Doctors can measure the amount of the protein, Trypsinogen, in the patient’s blood.  The level in the blood stream is higher than normal in a person with Cystic Fibrosis.  Another way is a genetic test that can identify a bad CFTR gene using a blood sample.  The third way is a sweat test.  Doctors can take a sample of the patient’s sweat from there arm or leg and measure the amount of salt (Sodium Chloride) in the sample.  People that have Cystic Fibrosis have between 2-5 times the normal amounts of salt in their sweat.       

What are the chances of a person with the disease passing the disease to their offspring (include possible scenarios)?

There are many different ways that two adults could produce offspring that are carriers, normal, or have Cystic Fibrosis.  Since Cystic Fibrosis is a recessive disorder both parents would have to be carriers or have the disease in order for there to be a chance of passing the disorder onto their offspring.  Below are a couple scenarios…

Normal mother x Normal father       Carrier Mother x Normal father        Carrier mother x Carrier father

              (All normal)                               (50% normal, 50% carrier)              (25% normal, 50% carrier, 25% have CF)

FF	FF
FF	FF

FF	Ff
FF	Ff

FF	Ff
Ff	ff

          

How prevalent is the disease in the population (include statistics)?

Cystic Fibrosis is one of the most common recessive genetic disorders in the United States.  It is estimated that about 30,000 Americans are living with Cystic Fibrosis, and approximately 1,000 new cases are diagnosed every year.  The people that have the highest incidence of Cystic Fibrosis are Caucasians from Northern Europe and Ashkenazi Jews.  These people have a 1 in 20-25 chance in being carriers of Cystic Fibrosis.