Guest Post: Living with Marfan Syndrome

When my friend Maya Brown-Zimmerman first said she had Marfan Syndrome, my first thought was, “Huh?” Marfan Syndrome is not something I had ever heard of. During National Health Blog Post month, I want to put a spotlight on some health conditions that affect other people – conditions that there may not be a lot of awareness of. Marfan Syndrome seemed like a good place to start, and I am delighted to introduce you to Maya, who tells about life as a “Marf”.

I’d like to thank Kirsten for the opportunity to share my story with you here today. She’s asked me to talk about Marfan syndrome and how it affects our family.

Marfan syndrome is a rare, life-threatening connective tissue disorder. Connective tissue is basically the glue that holds your body together, so most of the body can be affected, specifically the eyes, heart and aorta, lungs, skin, bones, and dura sac (which protects your spinal cord). The most dangerous aspect of Marfan syndrome is aortic aneurysms: weak bulges in the aorta that can tear, which is life-threatening.

Some signs of Marfan syndrome include a tall (in relation to your family) stature, being thin, having long fingers, disproportionately long arms and legs, scoliosis and kyphosis, lens dislocation, a concave or protruding chest, and stretch marks that appear in odd places, like the shoulder blades. There are not outward symptoms of aortic enlargement, so it’s very important to get a thorough scan of the heart valves and entire aorta via echocardiogram, MRI, or CT scan if Marfan syndrome is suspected.

I was diagnosed when I was 8 years old. My mother observed that I appeared physically unable to complete many gross motor tasks that other kids my age had mastered, like skipping or riding a bike. She took me to the pediatrician and told him she wasn’t leaving until he figured out what was wrong. Luckily for him (and me), he did! I’ll never forget him grabbing a tape measure and silently taking measurements, then standing back and saying solemnly: “I am so sorry. I should have realized this sooner,” before sending me off to have my diagnosis confirmed by a cardiologist and geneticist.

Marfan is a dominant disorder, meaning that I knew any children my husband and I would have, had a 50% chance of inheriting Marfan from me. Our oldest son, M, is not affected (though he does have autism), and our youngest son, J, has Marfan.

J and I are affected differently. He is almost 2 and by his age, I’d already had 3 abdominal surgeries. Thankfully, he is surgery free, but he has some mild leakage in his heart valves, asthma, and some GI issues. He also had global delays early on. Now he is only delayed in speech. He has mild dysphagia too, so we thicken all of his drinks. Although he will eventually have activity restrictions in order to protect his aorta and eyes, right now nothing holds J back! He climbs the furniture, chases his brother, and dances on the coffee table. He’s going to give me grey hairs, but I love his fiery spirit.

Growing up with Marfan syndrome was difficult for me. There was very little information available at the time and as I got older, I stood out from my peers more and more. I eventually connected with other “Marfs,” and have become very involved in the greater Marfan community (we refer to ourselves as the Marfamily). Currently I run the National Marfan Foundation’s teen program and am a member of their board of directors. While it took me until my teenage years to begin attending Marfan conferences and being involved with the Marfamily, J went to his first conference at 6 months of age. I’m involved with a tight-knit of Marfan moms of children J’s age, so he has a built-in group of Marfriends that he’ll grow up knowing. Since I was diagnosed, the life expectancy for people with Marfan has nearly doubled, such that with proper diagnosis and management it’s the same as the general population. It truly is a different world for J and his friends, and I am grateful and excited for that! I now view Marfan as a blessing in may ways, and I hope to pass on this outlook to my son.

If you have questions about Marfan syndrome or related disorders, please check out the National Marfan Foundation.

Maya Brown-Zimmerman, MPH, is a patient advocate and volunteer with the National Marfan Foundation as a member of the board of directors and coordinator of the teen program. She also chronicles the ups and downs of parenting two sons with special needs while having a chronic illness herself at Musings of a Marfan Mom and WebMD.

(Photo provided by Maya Brown-Zimmerman)