Sunday, November 13, 2011

Question: How possible is it that a cure will be found?

Answer: There are no cures for Marfan Syndrome and will most likely never be because it affects almost every cell in the entire body. There are many treatments though that allows a person to live a normal life.

Question: What are some organizations that can help families cope with Marfan Syndrome?

Answer: Here are a two of links to organizations that help people with Marfan Syndrome...

http://www.marfan.org/marfan/2307/About-the-NMF
http://www.marchofdimes.com/404.html#

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

Answer: Life is almost like an average persons life. The only thing is that physical activitys are limited both at work and recreation. Also the common body check ups. A person with Marfan Syndrome should visit different doctors since it can affect different parts of the body. Emotional and psychological needs should be addressed too.

http://www.marfan.org/marfan/2324/What-to-Expect
http://www.marfan.org/marfan/2439/Living-with-Marfan-Syndrome

Question: How can the disease be treated?

Answer: Marfan Syndrome gets treated for a lot of different places on your body.

Bones and Joints: Getting annual elevations for your bones and joints are important. If they grow in a disfigured way it can prevent certain organs from functioning right. Also it could cause it to be easily broken.
Eyes: Regular eye exams are necessary to correct any eye problems. You can get eyeglasses or contacts. In some cases surgery will be needed.
Heart and Blood Vessels: Getting echocardiograms are important to ensure that your cardiovascular system is working properly. Drugs, such as Beta-Blockers, can be taken to decrease stress on the aorta. Surgery should be performed before the aorta reaches a certain size and is at risk for tear or rupture. If a person is experiencing chest or abdominal pain he or she should go to the emergency room.
Nervous System: If dural ectasia develops, medication may be given to decrease any pain associated with it.
Lungs: People with Marfan Syndrome should not smoke because they are already at risk for heart problems. Any problems with breathing should be assessed by a doctor. Sudden chest pain can be made worst by taking a deep breath. Shortness of breath or dry coughs may be signs of spontaneous pneumothorax. Spontaneous pneumothorax  requires immediate medical attention.
Physical Activity and Exercise: Because of weak blood vessels and problems with heart valves, eyes, and skeleton collision/contact sports are dangerous for people with Marfan Syndrome.

http://www.marfan.org/marfan/2415/Treatment

Question: What is the life expectancy of someone with Marfan Syndrome?

Answer: The life expectancy of a person with Marfan Syndrome is the same of an average person if they get early diagnosis and appropriate management.

http://www.marfan.org/marfan/2324/What-to-Expect

Question: What are physical symptoms of the disease?

Answer: Marfan Syndrome affects many different body parts so not all people with the disease will look alike. Although Tall skinny stature, long arms, and long legs are the most common affect.

http://www.marfan.org/marfan/2327/What-Does-Marfan-Syndrome-Look-Like?
http://www.flickr.com/photos/nationalmarfanfoundation/3201874472/in/set-72157612643340384/
http://www.flickr.com/photos/nationalmarfanfoundation/3201874414/in/set-72157612643340384/
http://www.flickr.com/photos/nationalmarfanfoundation/3201874900/in/set-72157612643340384/
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Question: How is the disease diagnosed?

There are many ways to be diagnosed for Marfan Syndrome. Here are four ways to be diagnosed...

Echocardiogram: This test checks on your heart, its blood vessels, and the aorta because Marfan Syndrome affects these organs.
Electrocardiogram: This test checks your heart rate and its rhythm. Sometimes the doctor will have to do an echocardiogram too.
Slit Lamp Eye Test: In this test the doctor will make sure your eye lens is not dislocated.
CT Scan: The doctor scans your lower back to see if  you have dural ectasia, a back problem that is commonly found in people who have Marfan Syndrome.

http://www.marfan.org/marfan/2406/Diagnosis

Question: How prevalent is the disease in the population?

Marfan Syndrom is fairly common. It affects 1 in 10,000 to 20,000 people. It can affect anybody of any race or ethnicity.

http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfan.aspx

Question: What are the possible genotypes of the parents? What are the chances of a person with this disease passing the disease to their offspring?

The possible genotypes of the parents can vary. if you put these genotypes in a punnet square you can see the possibilities of the child having Marfan Syndrome. The chances of a person with Marfan Syndrome passing the disease down to his or her child can vary from 50% to 100%. Here is a chart that will show the possible genotypes and the percentage chance that the baby will have Marfan Syndrome...

M = Regular Gene       m = Marfan Syndrome
                                                                               Percentage chance of child
Parents:       Father:                          Mother:              having Marfan Syndrome:
Genotypes:  MM                                 MM                               100%        
                  MM                                 Mm                                100% 
                  Mm                                 MM                                100% 
                  MM                                  mm                               100%
                  mm                                  MM                                100%
                  Mm                                  Mm                                75%
                  Mm                                  mm                                 50%
                  mm                                   Mm                                50%

Question: How does a person inherit this Genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

Answer: A person can get this genetic disorder from his or her parents. There is a 50% chance of passing it down to your children if you have the genetic disorder. Sometimes you may be the first person in your family to get the disease. If that happens it is because a mutation has occured in your gene that tells your body how to make fibrillin-1, a protien that is an important part of connective tissue. Marfan Syndrome is autosomal dominant. It means that it is a dominant trait. The disease is genetic because it happens when a mutation occurs in the genes of a person.

http://www.marfan.org/marfan/2416/Cause

Question: What is a Genetic Counselor?

Answer: A Genetic Counselor is a professional that helps people or families that have genetic conditions. They have special training to help people understand genetic diseases. They also provide counseling and support for people and families with genetic diseases. Some of the things Genetic Counselors do are answering medical questions and address emotional concerns, discuss treatment options for a genetic condition, and talk about birth defects and genetic conditions. In order to qualify to be a Certified Genetic Counselor you must have Master's Degree in Genetic Counseling from an ABGC Accredited Program.


http://www.cdc.gov/ncbddd/pediatricgenetics/genetic_counseling.html
http://www.abgc.net/Certification/become_a_genetic_counselor.asp