What is Marfan Syndrome? Here's a layman's version of someone who has lived with this condition for over 20 years.
Marfan syndrome is a genetic condition that affects roughly 1 out of every 5,000 individuals. It is typically passed on from a parent to a child, but between 15-25% come from a spontaneous mutation. (http://www.encyclopedia.com/topic/Marfan_Syndrome.aspx) That was my case as neither of my parents were found to have Marfan syndrome when I was diagnosed in the early 1990's. Of my five children, my two youngest boys have positively tested to inheriting Marfan syndrome from me.
Marfan Syndrome is a connective tissue disorder that can affect many area of one's body. When you really think about it, practically all of your body is held together by connective tissue and those with Marfan syndrome have a tendency to be double joined or incredibly flexible. I was born in 1978 and due to my activity during my high school and college years, my knees are starting to stiffen and they crack multiple times when walking up steps.
Marfan patients need to be cautious about dislocation of the retina. I was always warned to not get hit in the head with a baseball bat so my eyes not to pop out! That exhortation as a child scared me! Thankfully my eyes always stayed in my head, but my two sons with Marfan syndrome, Dylan & Andrew, have yearly appointments with a pediatric opthamologist to verify the strength of the connective tissue behind their eyes.
Some individuals with Marfan syndrome have mild to sever scoliosis of the spine. I am grateful that I am only minutely affected that way, and overall my back strength is good. We heat our house in the winter with wood and I am able to go and cut firewood each spring/summer for the coming winter. I am very careful about fatigue and when tired I have to stop. Frequently a person diagnosed with Marfan syndrome also has a concave or convex chest. My chest was very concave during my elementary years, but then became convex (pushed out) when I went through puberty. A picture is included in My Story.
Other unique features in Marfan patients include, but are not limited to, stretch marks on shoulders and legs, crowded teeth, high palate, and near-sightedness. I have all the above plus the height. Practically all Marfan patients are tall. I was nearly 6 feet tall when I was 12 years old. I only grew another nine inches since then, so comparative to others, Marfan patients typically tower above the rest of the population.
Marfan patient's usually need to take some type of prescription medication. I took Atenelol for many years prior to my surgeries, and now both of my young sons take Atenolol each morning to help prolong their aorta's lifespan. Since my aortic valve replaced in 2010 is an artificial valve, I now take warfarin plus irbesartan and a small aspirin. Prescription regimes are important for Marfan patients.
Those diagnosed with Marfan syndrome should not be playing contact sports. It could literally kill you. Not because of your eyes or your back or being flexible, but because the affect of Marfan syndrome on a person's aorta. The aorta is the main artery that transports blood to your entire body. Marfan patients have an aorta that can stretch and tear with high physical activity. Aneurysm's can develop and burst. It's not a pleasant thought. I actually participated in way to many activities in my high school years and had my first heart (aorta) surgery when I was 18. My valve was significantly enlarged and a homograph was sewed in. (A homograph is an aortic valve that came from a cadaver)
Being diagnosed with Marfan syndrome doesn't mean it's the end of the world. Of course, limitations have to be set and yearly visits to specialists are very important. I see my cardiologist each year for an echocardiogram and checkup. My two sons with Marfan syndrome see a pediatric opthamologist, a pediatric cardiologist, and a pediatric geneticist each year. Marfan's can be monitored and a person can usually live a very productive life. My mother would tell me after I was diagnosed that I had to use my brain because I now had some limits with my body.
For more information, especially more technical and medical terminology, please visit The Marfan Foundation at the link below.