My Life With Marfan, Part 4

Previous installments of this series can be found here, here, and here.

The next 8 years were very busy. My doctors argued back and forth about my diagnosis. My aorta continued to grow steadily but slowly and I didn’t meet exact clinical criteria for the Marfan syndrome diagnosis. Some doctors said I was a normal kid who just happened to have a few Marfan characteristics; others said I should maintain my activity restrictions because my aorta was still growing. In my heart, I KNEW I had Marfan, no matter what anyone said. I continued my various awareness projects.

Towards the end of my freshman year of college, I needed to have a couple MRIs done. I opted to take Xanax beforehand because an hour and a half in that machine was going to make me too claustrophobic. Mark was learning more and more about Marfan, so I asked him to serve as my driver and go to my appointments with me to take notes, since I wasn’t sure how much I would remember being under the influence and all.

My last appointment of the day was with a geneticist and genetic counselor. Dr. Clarke, the geneticist, reminded me of a very serious Santa Claus. He asked me a bunch of questions, which concluded with: “Have you ever heard of Ehlers-Danlos syndrome?” I had not. He explained to Mark and me that I had most every symptom of vascular-EDS (there are many types of EDS) and I had to PROMISE not to leave the city of Cleveland until I had been tested. I pressed Dr. Clarke for more information, which he reluctantly gave to Mark after I vowed to just look it up on the Internet when I left his office.

Now, long story short, vascular-EDS tends to be fatal by the early to mid 40s. It’s a much worse illness than Marfan. My mother panicked when she got this information and prayed that the test (which involved sending a piece of my skin across the country and waiting 2-3 months for the sample to grow enough to be analyzed) would come back negative. I prayed that it would come back positive, because I was tired of all the arguing over my diagnosis.

2 ½ months later, towards the end of July, I received a phone call with the results. My mother and I both cried: she, because she was overjoyed and relieved, and me because I still lacked answers.

My junior year, Libby called Mom and me into her office to tell us of a relatively new disorder: Loeys-Dietz syndrome (LDS). Many patients who were previously told they had Marfan were being re-classified as having LDS, and she believed I should be tested because I had a fair number of LDS characteristics. A few months later those results came back negative. I insisted on having the genetic test for Marfan at that point.

You might ask why I didn’t have this done sooner, and there were 2 reasons: 1) My parents (wrongly) believed a firm diagnosis would keep me from getting life insurance (I was already disqualified) and 2) My doctors thought it was so unlikely that I had Marfan that they said the test wouldn’t be worth it. They were wrong; my test came back positive.

That summer found me newly engaged and headed to my first conference in years. Mark and I wanted to know more about our options for having a family and I knew the best place to get answers would be at conference. Although this time I was traveling alone, I felt as comfortable there as I had when I was 14. There was a big dinner the first night there, and I recognized a girl I’d known from my first conference, Emily. After the dinner I found her and introduced myself. She remembered me and invited me to come with her to work with the teens. She and another guy from my first conference, Ben, were in charge of the teen program now.

The rest is, as they say, history. Ben and Emily invited me to continue to help out with the teens, and I’ve loved every minute of that. The program has continued to grow. We have almost 80 teens registered for this conference. We run a website for them now (teenspace) and have a social networking site (NMF Connect). I absolutely cannot wait for conference!

Me, Lindsey (Ben’s then-fiancee, now wife), Ben, and Emily

S.’s square on the Marfan memorial quilt

After I’ve had a chance to recuperate, I’ll be sure to post pictures and video from conference, as well as my speech.

1 Comment

Filed under marfan

One response to “My Life With Marfan, Part 4

  1. Thanks again for this web site. Very nice!

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s