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The Marfan Syndrome

How many of you have heard of Marfan Syndrome? Admittedly, I knew nothing of this disease until a dear friend of mind approached, asking for my assistance, in spreading the word of his life-long friend, now in a tenuous recovery from a debilitating genetic disorder he knew nothing about---a disorder that nearly killed him.

 

It’s early December. His day starts off like any other. He kisses his wife goodbye and leaves for work, to a job he’s held for twenty years. This day is no more, or no less strenuous than any other.  He leaves after his shift, thoughts on seeing his lovely wife and family, when suddenly, his chest and abdomen seize up, the pain so acute he almost crashes his car. In moments, his vision turns cloudy as he became lightheaded and dizzy. Panic sets in; yet, he miraculously manages to merge his vehicle on to the shoulder of a busy New York highway without causing an accident. He dialed the love of his life, while cars continue to whiz by at 50 to 60 miles per hour, unaware of the life-threatening drama being played out inside the car parked on the shoulder.

 

He’s been the model of health virtually his entire life, not so much as a hiccup. It becomes evident, that at this defining moment, normal would take on a whole new meaning.

 

After what seemed like an eternity, but in reality took just a few minutes, his wife, Julia arrives on the scene, with a family friend, a retired emergency room nurse. That nurse recognized, immediately, a more robust plan of action was required and summoned an ambulance.

 

 

Moments later, Phil found himself flat on a table, a CAT scan revealing a dissecting (torn) aorta, which, as you might imagine, required immediate surgery, or risk bleeding to death. Mercy Hospital in Queens, New York, was not equipped to handle such a delicate procedure, requiring transport to North Shore University Hospital. After six hours on the operating table, a 13-inch section of the aorta and the valve was replaced.  A week later, our dear Phil was sent home to continue his recovery. But what had caused the aorta valve to tear in the first place, in a seemingly healthy individual?

 

Less than a month later, Phil would be readmitted to the hospital. An additional battery of tests revealed more tearing in the aorta, requiring another surgery, this time to replace the ascending aorta. Phil would spend his 59th birthday in the hospital, thankful he was still alive to enjoy the company of family and friends from who arrived from New York City, Maryland, Barbados, Boston and Florida.

 

Phil was once again sent home to recuperate. His time at home would be short-lived. A week later, Phil was back in the hospital clinging to life.

 

After several more weeks of tests, Phil was diagnosed with the genetic disorder, Marfan’s Syndrome. It’s a disease that affects the body’s connective tissue that holds our organs and blood cells together. One in 5,000 people have Marfan, a disorder that strikes both genders across all racial and ethnic types. Of those with Marfan, three of four carry the genetic mutation. But for some, they might be the first person in their family to suffer, from what doctors call a spontaneous mutation.

 

People with Marfan are born with the disorder, but might not exhibit symptoms until years later, like our friend Phil.

Today, Philip Pilgrim, more affectionately known to his friends as Uncle Phil, Tall Boy, and Slimo is still in recovery, with mounting medical bills. Unfortunately, Phil is the family’s only breadwinner, and as a result, the financial strain is proving more insurmountable than his illness, and that’s saying a lot considering he is still suffering.

 

A GoFundMe account has been established on Phil’s behalf at:

 

https://www.gofundme.com/tallboyfund
 

https://www.facebook.com/TallBoyFund

If you can spare a few dollars to help Phil and his family, I can’t think of a more deserving cause.

 

To learn more about Marfan Syndrome, take a look at the Marfan Foundation website, marfan.org.

 

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