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!
