“With pain comes strength.” This is a quote that I had found online three years ago and something that has stayed with me. I am fortunate today to have my health and to have been blessed with an awareness of my body type, as some people are not as lucky.
At 13 years old, I went to see a hematologist to be tested for blood clotting factors. Upon seeing me, he immediately asked, “Have you ever been seen by a cardiologist?” Within weeks, I visited a cardiologist at Mount Sinai Hospital in New York. My tall physical features, pectus excavatum deformity (indented chest), and spider-like scars on my spine (which are actually stretch marks) led to the diagnosis of a “kissing cousin” to Marfan named “MASS phenotype.” (MASS stands for Mitral valve, Aorta, Skin and Skeletal features.)
I had no other involvement with my eyes and lungs; I also didn’t have any aortic enlargement at the time. Only when I had my follow up visit three years later, when I was “sweet sixteen,” was it discovered that I had aortic enlargement. I was officially diagnosed with Marfan syndrome. The realization was startling.
A few years later, as a sophomore at The College of New Jersey, I was finishing my fall semester and felt a tad run-down. I went to my sorority formal, took finals, said so long to friends, and time slipped away...I just figured that I was getting sick from being overwhelmed and didn’t think there was anything to worry about. But when I went home for winter break, something just didn’t physically feel right. A week later, I went to my pediatrician. He listened to me breathe and didn’t hear air flow in my left lung. A chest x-ray revealed a full lung collapse due to a pneumothorax, and thoracic surgery was needed to repair my lung. Spring semester was set to begin in a few short weeks and I was terrified.
I recovered from that surgery and, as I have done since my diagnosis, I take my pill once a day and go to my cardiologist at Weill-Cornell, New York Presbyterian every six months for a check-up. I’ve struggled with acceptance of my diagnosis and have kept it on the back burner because I had what seemed to be a “mild” case. Through my transition in and out of college and some ups and downs with my physical health, unrelated to Marfan syndrome, I realized that this connective tissue disorder is something that will always be a part of me. It was time to step up and educate myself. At 23 years old, I have recently become involved with The Marfan Foundation and am ready to take control of my diagnosis.
It wasn’t until I recently met people from the Foundation that I learned more about their mission. I registered my immediate family, maternal grandfather, and myself for the 30th annual family conference. This yearly weekend will always be considered one of the most important times of my life. The amount of information I learned, people I met, feelings I came to terms with... are all indescribable. My first conference was emotional. I saw others who are affected more than I am, heard stories of those who have lost their lives, and met people who are struggling to stay alive. It was a life-changing event.
As someone with Marfan syndrome, I have learned that there are no guarantees, there aren’t straight answers, “will it/won’t it happen.” This is a struggle and fear we all need to come to terms with. In my young adult support group at the conference, we unanimously agreed that the unknown and the “unsure-ness” of this syndrome are the most frightening for us. We are blessed to know that there are dedicated medical professionals devoting their careers to this syndrome, successful cardiothoracic surgeries, and procedures that we can all count on, if needed.
I cannot thank the Foundation and my family enough for supporting and encouraging me. Since coming back from the conference, I have spoken to my co-workers and friends about Marfan syndrome. I have opened up more than I ever had and feel more vulnerable than ever.
Yes, it took me seven years after my diagnosis to come to terms with my medical condition and get more involved, but the second I did, I was surrounded by positive thoughts, people, and information. Together, we can make a difference, educate others about this syndrome, and support those who are struggling with it. The affected and unaffected people within the Marfan community make me feel comfortable, safe, and most importantly, welcome. As I always like to say to myself, “With pain comes strength.” We are not alone.
For more information on how to get involved, click here.