It's been about 22 years since I was diagnosed with Marfan Syndrome. The thing that amazes me about that is I've now been aware of my diagnosis for more than half of my life. For over half of my life I've known about this defect that affects all of my connective tissue. At the time of my diagnosis I didn't realize the impact it would have on my life, and yet the details of that day are etched in my memory.
I was a nursing student and like most nursing and medical students the joke is that you self diagnose with multiple illnesses as you read about them and see symptoms in yourself. My roommate and I had just read about Marfans in one of our classes and I remember sitting on our ugly green couch with my book in my lap and saying, "hey, here's what I have." She agreed with me, "oh yeah, it says long arms and legs, long fingers," we laughed and moved on.
Fast forward a month or two and I'm having my yearly physical and after listening to my heart in multiple positions (I have a murmur) and examining my joints and my long fingers my doctor asks me if I've ever heard of Marfan Syndrome. I told her with a smile that I had and that my roommate and I had joked that I had it. She looked at me with a very serious expression and said "I think you do." As I remember that, I always feel like a cell door slams shut. This didn't seem funny anymore. She expained how she had just been reading an article about it and that I fit the profile. So she referred me to a specialist in town and we made an appointment for Monday. This all happened on a Friday of what was supposed to be a fun weekend with my boyfriend (now my husband) Rick. He was living at WSU, I was 70miles North in Spokane for nursing school. I left Student health and started crying. I went to the dining hall where Rick worked and he took one look at me and asked to take a break. He didn't know what the doctor had said but he knew something wasn't right.
The weekend is a blur, my Mom wanted to make the 3oo mile trip and I told her I was fine, I wasn't sick so she didn't need to come. Now that I'm a Mom I would do that differently and have her there. She needed to be there. So Rick went with me to the first of many appointments over the years. They did an echocardiogram and made a tentative diagnosis and referred me to a cardiologist.
As I remember this, it's so surreal. I wasn't sick. I didn't have any symptoms. I was active and healthy. My aorta was slightly dilated and I had lots of physical characteristics, but no major problems. I worked part time at the nursing school library and I can remember researching Marfans whenever it wasn't busy. I wasn't given any resources by the doctors. No one told me about the National Marfan Foundation. The information I found was older and scary. The photos were of the worst cases and yet somehow that became mixed in my brain where I saw that same severity when I looked in the mirror. There was a slight sense of relief that all of the health problems I had dealt with over the years now were related. We didn't know why I had so many weird things wrong and now we knew that they were all because of this same defect.
It was the beginning of a roller coaster ride. And I guess that's the best way to look at living with Marfan's. I was strapped into a ride when I didn't have a clue what to expect. I hadn't seen the track, I didn't know how high it would take me or how big the drops were going to be. But from the highest peaks I've seen views that I never would have seen otherwise. There have been times when it's been an amazing thrill and I'm actually thankful to be on it and there have been times when I'm screaming to get off. The most awesome thing though, is that through it all I've had an in the flesh partner in the ride. Rick wasn't forced on like I was; he chose to step in, strap in and stay for the journey. So many times I told him to just get off, it wasn't his ride, he could find someone else who wasn't strapped into a thrill ride for life and live quietly and peacefully. But he refused to budge.
And the key to enjoying a roller coaster is being able to sway with the ride. If I stiffen up and close my eyes; I'm going to be constantly bumped and bruised and I won't see any of the good things that happen during the ride. Sometimes it's easy to forget that God isn't surprised by any of this. He does know the track, he knows when the drops are coming and how I'll respond. And He also has chosen to step in, strap in and stay with me for the journey. When I can remember that, I'm able to relax and enjoy the ride.