As Amanda mentioned on Friday, a few of us Cut the Crap girls will be meeting up for the first time and participating in the Marfan Mad Dash 5K in late June. Amanda, Melissa and I had a great idea a few months back to plan a get together to not only meet, but do something that has incorporated our lifestyle changes and ultimately, what has bonded us so closely.
We decided on a 5K, came up with a weekend that worked, and was on the search for a location that was central to the three of us. We were unable to locate anything centrally that seemed like it would work, and other dates just were not panning out. I decided to throw out, maybe running in a 5K that was behind a cause so I took to google and plugged in Marfan 5Ks. It just so happened that the Marfan Mad Dash was on the same weekend that the 3 of us were available, and like that the Cut the Crap Get Together was born!
So, what is Marfan Syndrome and what is the significance to participate in this 5K? Here is some background on Marfan Syndrome and my story.
Marfan syndrome is a genetic disorder of the connective tissue that can affect the skeleton, eyes, heart and blood vessels. It is estimated that more than 200,000 people in the U.S. are affected by Marfan syndrome or a related connective tissue disorder. Marfan syndrome is often hereditary, but approximately 25-30% of affected people are the first in their family to have the disorder. Thousands do not even know that they are affected.
And the significance? My family is affected by this disorder.
In 1989, my brother, Joey, at the age of 3, was suffering from incredibly poor eyesight. My mom took him to get checked out, and the doctor mentioned that Joey met many of the characteristics of Marfan Syndrome. When he detailed what some of those characterics were, she called my dad immediately. Shortly, after a number of appointments with doctors and specialists, both my father, at the age of 30, and my brother were diagnosed with Marfan Syndrome. Soon after, my little sister was born, and she too was diagnosed with Marfan Syndrome.
A lot came together for my Dad, upon learning of the diagnosis and conducting some research. He was always a tall, lanky kid growing up, with poor eyesight, long fingers and toes, and an avid sportsplayer who found himself in the emergency room more often than not with broken bones. I am grateful that we learned of his diagnosis when we did. At 37 years old, my Dad underwent open heart surgery to replace his aortic valve with a mechanical valve.
His surgery remains a vivid memory to me. In many medical books from the '80s and early '90s, they all had a brief paragraph about Marfan Syndrome, and stated that most patients diagnosed with the disorder, did not live beyond 50 years old. At the age of 14, I was faced with potentially losing my Dad, and it scared me. It still scares me. But for now, he is well. He may be faced with some surgeries in the future, but he sees a top specialist in the area for Marfan Syndrome and this helps lessen the nerves some.
As mentioned above, Marfans is genetic. The genetic mutation skipped me, but my brother, Joey and my sister, Chrissy both were diagnosed with the disorder. Both of my siblings meet the physical characteristics of a patient with Marfan Syndrome: tall, slim, long extremities and features. They have poor eyesight, and my sister's skeletal system has been affected, resulting in a number of surgeries that I can count on both hands.
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| Joey, Chrissy and I |
I have always had a lot of guilt. We knew that you could live a long life with Marfan Syndrome, but those scary thoughts from the medical dictionaries above have always haunted me. I felt bad that my siblings were affected, and I wasn't. I was allowed to participate in organized sports, without putting my health in jeopardy. I would have given anything for my brother to play baseball. Baseball was his sport. He played in our neighborhood common area with friends, and this was one of his greatest joys. In the summertime, he played morning, noon, and night. He was an honorary Orioles team member:)
My brother was exceptionally tall, 7 feet tall in fact. He HATED being that tall, and no matter where he was, he was always stopped and asked, "How tall are you? Do you play basketball?" It drove him crazy! About five years ago, when he and I were out at a bar and this kept happening, we came up with an idea that we would get a shirt made for him that said 6'10" (he never wanted to admit he was taller than that!) and No to address the questions above.
Unfortunately, Joey passed away in his sleep on May 21, 2008, at the age of 22. Our lives changed that day, and a huge piece of our life is missing. Not only was Joey literally taller than anyone else around, he was larger than life. He had this zest for life that most people only strive for. He was a silly and corny guy, but you were sure to be laughing when you were around him, even if you were the butt of his joke, ahem:) His motto, taken from Wedding Crashers no less, was "Just Livin' the Dream." Recently, I got a tattoo in his memory with his motto. I decided to recognize our Italian heritage, and the quote translates to "Live Your Dreams." When life starts to get too crazy or emotional, I have looked to the words on my foot, to help ground me.
So, with all of the lifestyle changes I have made over the last 6 months, the thought of running in Joey's memory and to support additional research for Marfan Syndrome for my Dad and sister seemed perfect. I will also be running in memory of my friend's little girl, Callie Marie. Callie was born with neonatal Marfan Syndrome in January 2012 and passed away 35 hours after her birth.
If you are interested in supporting the Cut the Crap team at the Marfan Mad Dash 5K, please feel free to donate at
https://runsignup.com/Race/DonationTeams/Team/82/ . All donations will go to the National Marfan Foundation.
Your donations will help the National Marfan Foundation provide life-saving diagnostic and medical management information to individuals, families, medical professionals and the general public, as well as provide funding to promote research and advocacy efforts.
All other virtual support is greatly appreciated, and Melissa, Amanda, and I appreciate the cheers to the finish line! To learn more about the National Marfan Foundation, please visit
http://www.marfan.org/marfan/.
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| Joey and I in 2007 |