Learn about Marfan's Syndrome

Marfan's Syndrome is a genetic disorder which affects the connective tissue of the body. The weakened connective tissue can produce certain external features, which aren't all bad, and certain internal problems, which are all bad.

A person with Marfan's will often be the tallest person in the family, with long arms and legs, and long, tapering fingers. The person might be described as thin, lanky, and very flexible, or "double-jointed." The person might seem a natural basketball or volleyball player. A member of the Silver Medal 1984 US Olympic Volleyball team, Flo Hyman, had Mafan's.

Unfortunately, Marfan's also usually affects certain internal organs, and contact sports are not advised. The spine can be affected by Marfan's, and an untreated injury to the spine can cause a severe curvature. The eyes are usually affected, and affected in two ways.

First, the lenses of the eyes are often dislocated, causing difficulty in seeing. Indeed, it was a visit to the eye doctor, and his diagnosis of dislocated lenses, that led to our realization that I had Marfan's. Second, the eye is often more oval, or egg-shaped, than non-Marfan eyes. This not only aggravates the vision problem, it can also lead to detached retinas and blindness.

But the big problem with Marfan's is that very often the heart and aorta are affected. Specifically, the mytral valve and aortic valve are deformed and leak (regurgitate), causing an audible murmur (honestly, mine sounded almost like a toilet flushing!) and the left ventricle will enlarge, or balloon, eventually stretching dangerously thin. The aorta is an even greater problem. It tends to stretch, and it can eventually have tears and leaks. This is called aortic dissection and, if not treated very quickly and properly, will lead to death. Aortic dissection can be due to causes besides Marfan's. First Gentleman Jose Arroyo suffered aortic dissection in April, 2007, and the news report of his successful treatment at St Luke's in Manila led to my treatment there one year later.

But if you have Marfan's, you don't need to just give up - medical science has progressed a lot in just the last ten years, and a lot of the complications of Marfan's are preventable or treatable. My uncle has documented my treatment in Marfan Story which he recently published on the web in order to bring attention to Marfan's Syndrome.

And, as he points out in his story, for the best information about the syndrome, as well as how to recognize it through its features, visit the website of the US National Marfan Foundation (NMF).

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