My Life With Marfan, Part 3

Previous installments in this series can be found here and here.


I had decided that my mission was to make sure 1) everyone knew about Marfan and 2) people with Marfan knew how to advocate for themselves, especially in emergency situations, so that no one would die of aortic dissections anymore. Impossible goal? Yes. But, I’m only going to stop trying to reach it when I’m dead.

Before I could go about educating anyone else, I realized I needed to educate myself and change my poor attitude. I sent away for materials from the NMF and started researching. In the first year after Sandy’s death, I wrote an article for the local on Marfan syndrome as a guest columnist and gave a couple of presentations at school to students and staff at my school.

When it came time for my 8th grade graduation present, my mom offered to take me to NYC or to the National Marfan Foundation’s conference in Pittsburgh. The choice was a no-brainer.

Most of my peers plastered their walls with pictures of *N Sync, Leonardo di Caprio, and whoever the other hot celebrities of the moment were. Not me. Every morning I woke up to a big poster of the NMF’s Board of Directors/Professional Advisory Board members. They were my idols. When Mom and I arrived at conference, I felt like I was one of those “nobody” guests at the Academy Awards, watching all the famous people walk the red carpet. "OhmigoshMom LOOK it’s JULIE KURNITZ!!! And she’s talking with CAROLYN LEVERING. Do you even KNOW who they are?!?!”

Vincent Schiavelli ran the teen programming back then. At first I was really nervous about participating. I told Vincent I didn’t feel well and that I’d skip the art exhibit trip that first night. He said he would get a taxi for him and me so I didn’t need to walk. Still, I turned him down. Someday, when I’m on my deathbed, if I get asked “Maya, do you have any regrets?” I will say “Only one. I SHOULD HAVE TAKEN THAT TAXI RIDE WITH VINCENT SCHIAVELLI darn it!” Seriously folks, that man was awesome and a gift to the teen program. He was both serious and irreverent and pushed us to view ourselves as capable. Any time I see him in Tomorrow Never Dies I smile.

I don’t think I can ever articulate what the first conference meant to me. It was a lifesaver for sure. It was freeing to be surrounded by12 other kids who understood what it was like to not be able to participate in gym, to have pain, or fear, or heart palpitations. No one questioned me when I said I couldn’t drink pop. It was just…comfortable.

There were two highlights to my weekend. Our friend Barb had traveled to conference with Mom and me, and she was very well connected in the Marfan community. First, she introduced me to Libby Sparks. Libby was a nurse practitioner working under my cardiologist, and they were starting a Marfan clinic. After conference, I switched my care over to Libby, and that might have been the best medical decision I ever made. Throughout the past 10 years she has watched out for me, cheered me on in life, and basically become a part of our family.

The second highlight was dinner with Julie Kurnitz. Barb knew Julie and arranged for a big group dinner at the hotel restaurant. I cannot tell you what we talked about; all I remember is thinking that I was the luckiest girl in the world that someone like Julie would pay attention to me. She even invited my mother and me to a party in her hotel room later that evening! Carolyn Levering (the NMF’s CEO) was there, along with some other “bigwigs.” Mom was really embarrassed that I had dragged her along (she didn’t think the invitation was real) and we didn’t stay a long time, but I will always be grateful to Julie for making me feel so special and important.

I left that conference with an increased sense of self-worth and an even more fervent desire to spread awareness about Marfan syndrome.




The 1999 conference group: 13 Marfan teens + 2 unaffected siblings


The lovely ladies

Rolling Over

Finally caught this on video! Actually, it's not that hard because over the past two days, this is Miles favorite thing. His only problem is that since he can't roll front to back, he ends up getting bored and crying for help. So, I put him back on his back, and a minute later he's back on his belly....

Ode to a Strawberry

On Sunday, I "harvested" the first food from my garden: a little strawberry. No strawberry has ever tasted so sweet (or tangy)!



These other garden pictures are a little old. The tomato plant has almost certainly surpassed Mark in height now and I have one tomato growing. I hope others follow suit soon...there are a ton of yellow flowers but they are beginning to brown (is that what happens before a tomato comes?). The oregano and green onions died. I replanted one of my garlics in the oregano pot and, at Mark's request, I'm trying out beets in the green onion container. So far I've got one that has sprouted. Unfortunately, after I killed off the spider mites, my tomato and green bean plants got a leaf fungus. I've picked off all the infected leaves, so I hope that's the end of that. Mark also killed off a few tomato caterpillars. Gross!





(sad fungus)

After Nap

This is how I found Miles yesterday when I went into the nursery to wake him up from his afternoon nap.

On Mommy's Shoulders

Marfan 101

Abbey brought to my attention that while I’m doing this series on how I got involved with the National Marfan Foundation, I never have actually explained what Marfan is. So, without further ado, I bring you Marfan 101.

OK, we’ll start with a simple definition from the NMF first. Marfan syndrome is a genetic disorder that weakens multiple body systems, including the heart, blood vessels, bones and joints, lungs and eyes.

To get more complicated, Marfan is a hereditary and dominant genetic disorder. This means that Marfan is caused by a mutation in a gene and that mutation can be passed on. A person with a mutation that causes Marfan will always have Marfan and has a 50/50 chance of passing that mutation on to offspring (unlike, say, cystic fibrosis, which has to have mutations from both parents to manifest itself in a baby).

Marfan affects the connective tissue, and connective tissue is the glue that holds our body together. That is why multiple body systems are affected, because connective tissue is found throughout the body. Researchers aren’t sure why, but Marfan affects every person differently, at least to an extent, even within a family. A parent might be severely affected and have a child who only has mild problems from the disorder, even though they have the same mutation (and there are over 600 known mutations that cause Marfan). Here are some symptoms of Marfan (from the NMF's site):

Cardiovascular system:
- Mitral valve prolapse (a weakening of the valve)
- Aortic aneurysms anywhere in the aorta (the aorta is the main blood vessel coming from the heart, and an aneurysm is a weakened bulge)
- Aortic dissection (an aneurysm tearing)
- Congestive heart failure

Ocular system:
- Early cataracts
- Early glaucoma
- Dislocated lenses
- Detached retinas
- Severe near-sightedness

Skeletal system:
- Very tall (compared to your family)
- Long arms, legs, fingers, toes, and face
- Very thin
- Curvature of the spine
- Flat feet
- Very flexible
- A chest bone that curves inward or bows outward
- Stretch marks (without other explanation, like pregnancy or sudden change in weight)

Pulmonary system:
- Lung disease, including emphysema, without smoking
- Spontaneous pneumothorax (sudden collapse of the lung)

Neurological system:
- Dural ectasia (a bulge in the sac of fluid surrounding the spine that can cause pain and a host of other problems)

The reason Marfan is life-threatening is because of the chance of aortic dissection. Not everyone with Marfan has major aortic problems (for now at least, I’m one of those fortunate ones), but they can develop at any time and there are no outward symptoms until a dissection occurs. Without prompt medical treatment, a person with a dissection will die. Sometimes it happens within a matter of hours (think John Ritter, although he did NOT have Marfan), sometimes it can take a couple of days or weeks (like Jonathan Larsen).

There are steps that we as “Marfs” can take to protect ourselves. Most of us (myself included) take a blood pressure medication daily to decrease pressure on our aortas. Beta-blockers are the standard of care right now. We stay away from contact sports and isometric exercises (where we hold our breath and strain, like weight lifting) and generally try to keep our heart rates under 100 beats per minute. We’re lucky to live in a time where a lot of research is taking place to improve our lives. When I was first diagnosed 16 years ago, the cardiologist painted a bleak picture for my parents. I am not sure they thought I’d be getting married, let alone having a baby. Now, Marfs have a normal life expectancy with treatment, which is why early diagnosis is key.

I could go on and on about Marfan, so I won’t bore you any further. ☺ But, if you have any questions, just leave them in the comments!

Miles: Five Months

Miles Blue, today you are 5 months old!


No well visit this month, but we did take you in for something else on Monday, and you weighed 15 lbs, 12 ounces, which is just under the 50th percentile. I am so glad your growth is slowing down…you’re getting hard to carry!

You go to bed around 9 PM and wake up at 8 AM, just about on the dot. I can probably get away without using an alarm clock! You are still using the swaddler, but are getting better at staying asleep or going back to sleep when you get out of it. For a few weeks after we started the new sleeping schedule you wouldn’t go to sleep unless I put you down, but now you go to sleep for Daddy just fine. We also moved your bassinet into the nursery. Your favorite lullabies are I Often Go Walking, the Skinnamarink a dink-e-dink song from Sharon, Lois, and Bram’s Elephant Show (which I also used to sing to your Aunt Gabriella every night when she was little), and the Broadway tunes Daddy sings.


Just now when I set you down for your nap, I watched you wriggle your way out of the swaddler. I think it took you less than 30 seconds and you laughed at me the whole time. You laughed right up until you were re-swaddled and realized that you couldn’t Houdini your way out again. Then, you gave me the saddest little pouty face!

This morning you rolled over for the first time, back to front! You’re still not interested in rolling front to back, but that’s OK. You spend a lot of time playing with the rings and turtle on your activity gym. You twist yourself all around too. Here are some pictures. 


(Also, how about this onesie? Normally I am not a fan of “cutesie” writing on baby clothes but a woman at church passed this on to me after her son outgrew it and I thought it was clever, plus Mark LOVES Star Wars.)

Miles Blue, we love you!