My journey with Marfan syndrome has been a long and complicated one. I was first tested when I was 19. At that time, the tests were inconclusive. I have some of the features of Marfan syndrome, such as pectus carinatum (pigeon chest), and was very tall and thin, but my measurements were borderline. I had no known family history, and I hadn’t developed any serious heart problems. They told me this is not uncommon because I was still young and many people don’t begin to have problems until they are older. The doctors couldn’t confirm that I had Marfan syndrome, but they also couldn’t confirm that I didn’t have it. So here I was in limbo, and limbo was where I stayed for a long time.
It’s not easy to tell a doctor that you might have Marfan syndrome and have them take you seriously. Honestly, they probably didn’t know much more about the condition than I did. Because I wasn’t having any luck with doctors, I did the only other thing I could think of: I googled it. That’s how I found The Marfan Foundation’s website. I signed up to request more information and within a week I had a packet in the mail. But then the most surprising thing happened. I received a phone call from a woman with a local chapter of The Marfan Foundation who reached out to me to help. It might not seem like much, a simple phone call, but it was one of the most influential things to happen to me. I wasn’t alone. It is profound to have that realization. I signed up to become a member that very day.
About a year later, I received an email about a meeting in Seattle to form a NW Washington group. That meeting changed my life. I was able to look around the room and see other people with this condition and, once again, saw that I wasn’t alone. I met Dr. Byers, my geneticist, that day. There also was a wonderful woman from the Foundation who told me about the Annual Family Conference. She said that they had a medical clinic that allowed you to see the best Marfan specialists in the country for free. I knew then that if I wanted a definite answer, I wouldn’t find any better way to get it.
I can honestly say that, if I hadn’t received a scholarship to attend the conference, at 33 years old, I still might not have a diagnosis today. Much more important than that, at the conference I found a community. I met so many people who were like me and, for once, I wasn’t the tallest person in the room. And I wasn’t the only person who had a pigeon chest. I wasn’t the only woman scared to have children. I wasn’t the only person there to find answers. I wasn’t alone. That, more than anything, is the biggest gift that that this organization has given to me. From now on, I’m not alone. When you spend your whole life trying to pretend that everything is okay because no one will understand, to meet so many people who know exactly what you are going through is life-changing. I found a family within The Marfan Foundation. I know that I can reach out to them at any time and someone will reach back out to me. Just like that first phone call that surprised me so much. I could not begin to express my gratitude to The Marfan Foundation. I only hope that, through this amazing organization, I am able to help someone the way that they have helped me.
P.S. You can make sure The Marfan Foundation continues to help every single person who contacts them. Please donate today. Thank you.
Krystal is 33 and was diagnosed with Marfan syndrome last year. She currently lives near Seattle, WA, with her husband Tucker. They are moving to Sarasota, FL, in July and she is excited to meet a new Marfan community.