Marfan Syndrome

     Marfan Syndrome, also knows as Marfan's Syndrome, is a disease in which you inherit from a parent that has the condition, or a family member in past generations that carried the disease. Thus, making it a hereditary disease, which means that the person cannot help if they get the disease, it is given to them. Except in a special case, a person could be the first person to have this disease, which is called a spontaneous mutation. If this person ends up having offspring, there is a 50% chance the child will inherit the disease. The disease runs in the FBN1 gene, which describes the protective protein fibrillin-1, and affects the connective tissues. FBN1 gene controls how the body makes the protein fibrillin-1. Connective tissues are fibers that help to provide support and structure to other tissues and organs.

     The disease is named after a man named Antoine Marfan, a French pediatrician. In 1896 he described the syndrome after observing a five year old girl, which had problems that affected her bones, and body in weird ways. Francesco Ramirez in New York City first identified the gene linked to the syndrome in 1991.

     1 in every 1,500 people have the disease. It affects different people in different ways. The major parts of the body it affects are the heart, blood vessels, bones, joints, and eyes. It does not however affect the way you think or your brain. There are many symptoms that go along with this disease that you should be aware of.

     The symptoms come in a variety of ways:

1. Long arms, legs, fingers
2. Tall and thin body type
3. Curved spine
4. Chest sinks in or sticks out
5. Flexible joints
6. Flat feet, Crowded teeth
7. Stretch marks on the skin that are not from weight gain or loss

     The bad thing about this disease is there is still no cure for Marfan Syndrome. You can delay or prevent some of the symptoms but there is no way to fully cure the disease. Medicines are used to slow your heart beat and have the heart beat with less force on the chest, which are called Beta blockers. However many people have side effects to this medicine, such as tiredness and nausea, so doctors prescribe what is called calcium channel blockers or an ACE inhibitor. There is also surgeries that can be done to repair or replace the aorta in your chest when it sticks out or sinks in. After the surgery you will receive "blood thinners" which will stop blood clots from forming. You will also need to go for routine checks to ale sure your heart valves and aorta are working the way they should.  MRI and CT scans are routine to check your aorta and chest. 

     Treatments are things that can help you when you have the disease. Parts of the body that can have treatments are the bones and joints, the eyes, the nervous system, and the lungs.
     "Marfan Foundation" is the biggest support group of all the groups. They raise millions of dollars a year for research and new methods to try and slow the disease. They show awareness and try and make kids with the disease feel loved, and be treated like a normal kid. It is a huge foundation in the United States and the biggest for Marfan Syndrome. Other groups are the "International Federation of Marfan Syndrome," and an online blog called "Daily Strength: Marfan Syndrome Support Group."
     Resources:

1. http://www.marfan.org/about/marfan
2. http://www.webmd.com/heart-disease/guide/marfan-syndrome
3. http://www.medicalnewstoday.com/articles/179900.php
4. http://www.faqs.org/health/topics/14/Marfan-s-syndrome.html
5. http://www.marfan.org/about/signs
6. http://www.nhlbi.nih.gov/health/health-topics/topics/mar/treatment
7. https://www.marfan.org/secure/community-support
8. http://www.marfanworld.org
9. http://www.dailystrength.org/c/Marfan-Syndrome/support-group