I was still editing this up until about a half hour before I had to give it, haha. Laurel’s mom got the whole thing on video, and that is on my Facebook (you may have to scroll down awhile on my page to find it). I didn’t get nervous until about an hour before it was time and even though I was speaking in front of my Marfamily, my hands were still shaking as I spoke. Overall I think it went well though, and I’m really grateful for the opportunity I was given to speak.
I’d like to thank the NMF for the opportunity to speak on the panel today. I’ve been asked to talk today about my own experiences with Marfan; I expect my story is very much like many of yours.
My parents always knew that something wasn’t quite right with me. I come from a long line of short people and so I think my mother was the first in the family to have the OB look at her newborn and proclaim “Well, you’ve got a basketball player on your hands!” It wasn’t until I was 8, however, that the term Marfan held any meaning to me; I fainted at a street fair, and that was what set the ball rolling on my diagnosis. The cardiologist we were referred to told my parents I had Marfan, gave them a long list of things I couldn’t do anymore, and sent them on their way. They were left to navigate the diagnosis on their own, which sometimes meant they were operating on wrong information. At first I thought it was pretty cool that I had the same illness as President Lincoln, but as I got older I became increasingly angry and bitter. I was not included in the decision-making process about my healthcare and I felt like my parents didn’t let me do ANYTHING. To make matters worse, I was being given a hard time at school. In an effort to “educate” my classmates, my teachers would say things like “Now everybody, we need to be very careful around Maya. She has a heart problem and if she fell down the stairs or anything, she’d be really hurt.” Kids came up to me, kickballs in hand, and would ask “So, if I throw this ball at your chest I’ll kill you, right?” After another afternoon of me crying about how hard my life was, my mom suggested I write my cardiologist and ask him if there were any other kids with Marfan my age who I could connect with.
That started my connection with a local Marfan group. There was a girl my age, Sandy, and we became fast friends. Unfortunately, shortly thereafter, Sandy died of a dissection. We were 13 years old. Someone had apparently forgotten the rule that when you’re a teenager, your best friend is not allowed to die. In order to deal with my grief, I decided that in honor of Sandy, I would educate everyone about Marfan so no one would die anymore. I started with myself, because I needed a major attitude adjustment. I contacted the NMF to get materials and read through everything, then taught my middle school and all the faculty and staff. To remind me of my goal, I hung up an NMF poster that had some of the Board of Directors and Professional Advisory Board members on it. I decided that when I grew up, I’d go to Stanford and work with them to find a cure for Marfan. I attended my first conference that next summer and it was life changing. I remember walking in to the hotel and seeing Julie Kurnitz and Carolyn Levering from my poster and being starstruck. And these people talked with me. They included me. I think that really sets our organization apart, that everyone is so welcoming and helpful, from the top of the foundation to the bottom. I started volunteering with the NMF at that point.
Now, throughout all of this, I never quite met the clinical criteria for Marfan. I operated under the assumption that I had Marfan, although my presentation was somewhat atypical. This meant I still had echoes every year, followed activity guidelines, and even had a couple of surgical procedures during that time. At the end of freshman year of college I was getting some tests run when a geneticist told me he was sure I had vascular Ehlers-Danlos and I had to promise not to leave the city until I had been tested for it. The test came back negative a couple of months later, and my mother and I both cried: she because she was glad I didn’t have it and me because I was frustrated that I still did not have a concrete diagnosis. About a year and a half later my nurse practitioner brought up the possibility of Loeys-Dietz, and I had the genetic test. Again, negative. At that point I decided I wanted the FBN1 test for Marfan run. I was getting engaged and my boyfriend and I were talking about kids and it was important to me to know what I was dealing with before we made any decisions. A few weeks later, I finally had the answer I had searched 13 years for: I have Marfan. And last spring, with the diagnosis of dural ectasia, I finally met clinical criteria for Marfan. The entire process took 15 years.
In December, I graduated with my Masters of Public Health. I was definitely influenced by my activity with the NMF. I want to find a job as a patient navigator, to help people with chronic illness navigate the healthcare system. Being your own advocate is so important, and I hope to be able to help others have a more positive experience than I did initially.
In February of this year, I gave birth to a baby boy, Menininho. The decision to have a biological child was not easily come to. Mark and I spent two years researching and debating, but eventually decided that Marfan is more of a blessing to me than a curse. However, even while pregnant there were nights I would cry to Mark that a child deserves to have a mother who could carry him and chase him and never be tired, and Mark would remind me that there are no perfect parents, just perfect love. I was lucky enough to have an OB who specialized in Marfan. My pregnancy was not terrible, though not without complications either. I would be lying if I said that being a mom isn’t physically demanding. For instance, Menininho is getting to the point where it’s difficult to carry him, and that requires some changes to our daily schedule. However, being a mother also makes me incredibly happy, and I believe that even though we have some physical limitations, we deserve the same chances for happiness as everyone else. Some day I believe we’ll add to our family and adoption is definitely something we want to do, but right now we’re just taking everything one day at a time.
As we get ready to end conference this year, I feel a lot of hope. Our community has come a long way in terms of medicine, advocacy, and the ability to connect with each other in the 10 years I’ve been active with the NMF, and I just know great things are in store for the future. Thank you.