Friday, March 27, 2009
In the past 10 years I have known 3 people (all very dear to my heart) to die of Marfan's syndrome. It is not a well known disorder such as cancer or diabetes and you can always tell a person who has it simply by looking at them. They are tall, lanky, skinny and have very hollowed and chisled features.
It is a genetic disease of the connective tissue which makes it thin and frail around the heart, eyes and skeleton. It does not affect intelligence. Statistics have shown that 1 out of ever 5,000 people have Marfan's. It does not prefer one ethnicity over another and there is no cure. The reason why it is so dangerous is because it often causes aortic enlargement and thinning of the walls of the aorta which in turn can cause it to tear and leak.
It will be a year soon since Colby John died. He was like the little brother I never had. Everyone knew Colby had Marfan's, as did his uncle, grandmother, mother, aunt and sister. He is the 5th person in his family to die from Marfan's. His sister is the only living survivor in the family that still has the disease. Their brother Jake was the only child out of three to not have it. As I said, Marfan's does not affect the brain and I'm pretty sure that Colby was the happiest and most care-free person I have ever had the honor of knowing. He was full of life and so much energy!!! :)
Recent picture of Jake and Colby:
So, as the Grey's Anatomy nerd that I am I was so glad when they decided to do an episode on Marfan's in its first season. Christina and Burke are having their first "date" and while eating dinner, a man at a nearby table collapses. If you watch the video you will see that because of the man's fingers (which were elongated and skeletal) they were able to tell right away that he had Marfan's and they were able to save his life because they were able to get him to the hospital before his aorta could bleed out:
This blog is only to bring awareness to the people reading it. You never know if you may meet someone with this genetic disorder. :)
More info: http://www.marfan.org/marfan/