February is Marfan syndrome awareness month.  Marfan syndrome is a genetic disorder that is, unfortunately, something literally close to my heart. I received my diagnosis in October when things took a turn for the worse after 15 years of being aware I had an issue with my aorta but not knowing its cause.  My son Jackson, age 9, has recently been genetically diagnosed, and daughter Mia, age 4, shows some symptoms as well. Though I did have spinal fusion surgery to repair scoliosis, another possible sign of Marfan syndrome, I do not have the typical look of Marfan syndrome patients. So in a way, I am lucky for having been diagnosed, as approximately half of those with this disorder are unaware, and their life can be suddenly cut short without required medications, possible open heart surgeries, and lifelong monitoring. As many of you know, Boston Celtic Jeff Green had life-saving surgery on his aorta in early January. If he were not a professional basketball player with regular checkups, he might have been lost to his condition which may be due to a disease process such as Marfan syndrome.

Your donations will be used in many helpful ways, including increasing the awareness and education of doctors so that the undiagnosed population can get a diagnosis and have the lifelong help they will need. 

You can learn more by going to www.marfan.org and watching the accompanying video.

Thanks, from the TOP of my heart,

Scott 

 

WHAT IS MARFAN SYNDROME? 

Marfan syndrome is a genetic disorder that weakens multiple body systems, including the heart, blood vessels, bones and joints, lungs and eyes. The life-threatening part of Marfan syndrome is the weakening of the aorta, the large blood vessel that carries blood away from the heart. Early diagnosis and treatment are essential for maximizing life expectancy. It is estimated that more than 200,000 people in the U.S. are affected by Marfan syndrome or a related disorder. Experts agree that about half of those affected with Marfan syndrome are not diagnosed. Marfan syndrome is often hereditary, but 25 percent of affected people are the first in their family to have the disorder.

Credit: Have a Heart image created by Karen Mackie-Dumont