My Citations

1. Human Genome Project Information. 1 Jan. 18 Feb. 2009 http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genecounseling.shtml.

2. Marfan Syndrome. 1 Jan. 2 Feb. 2009 http://www.medicinenet.com/marfan_syndrome/article.htm.


3. "Marfan Syndrome." OSF Health Care. 1 8 Mar. 2009 http://www.stayinginshape.com/3osfcorp/libv/i51.shtml.


4. "Your Genes, Your health Home." Marfan Syndrome. 1 8 Mar. 2009 http://www.yourgenesyourhealth.org/marfan/inherited.htm.

5. "Marfan Syndrome." NIAMS. 1 8 Mar. 2009 <"Marfan Syndrome." OSF Health Care. 1 8 Mar. 2009 .>.

6. "Marfan Syndrome." Fact Sheet. 1 8 Mar. 2009 http://www.luc.edu/cse/programs/sepup/SALI/marfan-syndrome-faq.pdf.

Is their a possible cure for this diease?

Their is no known cure for this disease right now. However their are many treatments available for people with this disease.

What are some organizations that can help a person cope with this disease?

Their are a number of organizations that help with this disease; such as:

1. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
http://www.niams.nih.gov/

2. National Human Genome Research Institute (NHGRI)

3. National Marfan Foundation
http://www.marfan.org/

4. American Heart Association
http://www.americanheart.org/

What limitations will this person have?

This person will have many physical limitations. Many people with Marfan Syndrome cannot participate in sports because their heart can't handle that amount of stress. Some people will develop eye problems and will have to do regular check ups at the eye doctor and have glasses. Many kids start growing rapidly and have to do frequent doctor visits, which can be very costly. People with Marfan Syndrome are urged not to smoke.

What is everyday life like with a person with this diease?

Not everyone will have the same kind of life with Marfan Syndrome because some people have a severe case, while others have a less severe case. Many people with Marfan Syndrome have to always worry about their stress levels because they can't put to much stress on their heart. They can't just get up and play football with a friend or go ride a bike; they always have to check with a doctor and see if their heart will be able to take such physical activity. Many doctors give their patients a list of things they can do and how long they can do it, so you can be active. People with Marfan syndrome (9 times out of 10) are way above normal height, so many people get comments and stares on how tall they are. When you have Marfan Syndrome you are not allowed to smoke or use tobacco products.

How can the disease be treated?

Though their is no cure for this disease, their are many treatments available for people with this disease to make their life easier. If a patients spine is affected by this disease they may be asked to wear a brace or even have surgery. Frequent check ups are also recommend to they can keep an eye on any rapid growth that maybe occuring. People often have eye problems with disease and that can be easily corrected with glasses or contacts. Your heart and blood vessles are majorly affected by this disease and many patients are asked to wear a heart moniter and some only have to take drugs. The lungs can also be affected serverly, so they ask people with this diease not to smoke because it can be life threatning.

What is the life expectancy of someone with this disease?

Many poeple diagnosed with this disease can expect to live a normal life expectancy, that is only if they disease is caught early enough. Due to all the medical advances we have today, the doctors can prevent any future complications and create a healthy life for their patient.

What are the physical symtoms of this disease?

Their are different physical effects for everyone, they may include:

• The persons bones are longer than normal


• Teeth is very crowded in the mouth


• Very flat feet


• Their maybe a curved backbone


• Cataracts may occur


• May experience near sightness


• Stretch marks on skin


• Snoring or breathing irregularly

These are only some characteristics of this disorder, many people may experience other side effects.

How is this disease diagnosed?

The disease can not be diagnosed just by one doctor; you may have geneticist, cardiologist, ophthalmologist, orthopedist specialist. The doctors will take x-rays, measure the arm span (many people with disease have a large arm span), and most importantly ask any family history of this disease. It is hard to diagnose this disease if none of your ancestors has ever had this disease. If their is no line of this disease in your family history, than before the doctor can make an acurate diagnosis at least three of the body systems has to be affected.

What are the chances of a person with this disease passing the disease to their offspring?

Since this disorder is autosomial dominate their is a 100% chance that at least one of their offspring will have this disorder. The other offspring may be carriers of it and can pass it off to their children, but that's a fifty percent chance that will happen. This disease effects all generations.

How prevelant is the disease in the population?

Their is an estimated 5,000 to 10,000 people living with this disease in the united states. Those may seem like large numbers, but considering the size of our country that is small.

How does a person inherit this genetis disorder? Is it dominate or recessive? Is it genetic or chromosomal?

Marfan syndrome is autosomal dominate and it is genetic. A child can inherit this disease as long as a parent has the disorder. Since this disease is autosomal dominate then every generation is affected.

What is Marfan Syndrome?

It is a disease that effects the connective tissue of your body and can be inherited through your family. The connective tissue holds your body together and helps with growth and repair in your body. Since your connective tissue is everywhere and the disease effects the connective tissue; then almost all your internal organs are effected. Including your heart, eyes, blood vessels, nervous system, and lungs.

What Is a Genetic Counselor?

Genetic Counselors are on a health care team that give support to the families that have genetic disorders or birth defects in family members. They analyze the families history and look to see if their is any inheritance patterns to see what generation will be affected. They review available options to the family and make sure they have support within this process.