Musings of a Marfan Mom

Marfan 101

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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!

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17 Comments

  1. maya! thank you for explaining that so well. i once looked it up and it was very difficult to understand. i so am glad that you WERE able to get married and have a precious little boy!

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  2. Thanks so much! I knew you'd be able to explain it well!

    You are inspiring, Maya!

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  3. You did a much better job explaining that than wikipedia did. I'm glad I have a better understanding! Oh, and the video is adorable!

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  4. Maya, do you know yet whether Miles inherited the gene? If they know at such a young age that they have the disorder, is there anything they can do?

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  5. Miles does not have Marfan. We were able to know this by the time he was 2 weeks old, thanks to genetic testing. The earlier a diagnosis is known, the earlier treatment can start to try to delay the growth of the aorta. Babies at least as young as 6 months old can start taking beta blockers. And, being diagnosed at birth has the advantage of growing up never being able to do "dangerous" activities like basketball or football. It's a lot harder on teens who get diagnosed who grew up playing intense sports and then had to give them up I think.

    However, since the mutation for Marfan is found throughout the entire body, even having a diagnosis when the baby is still in utero doesn't allow for a cure, at least at this point in time.

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  6. I had never heard of that before. I am happy to hear you are doing well. Sometimes Doctors suck (the one who was bleak.)

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  7. Hi…I popped over here from Mama’s losin it and am floored.

    I have been worried for so long about our son having Marfan’s and I don’t know where to start. (He is our son through adoption, so family history is unknown). He has all the physical characteristics, has had two different nurses ask him if he has Marfans, yet none of the doctors he has ever seen has ever recommended testing. Honestly, I didn’t know there was testing available.

    Do you know where I could call to find out where testing is being done?

    Any info you could give me would be wonderful. (We live in the Cleveland, Ohio area). Please feel free to email me ~~ crisyserl@aol.com.

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  8. A doctor thought I had this when I was growing up but did an ultrasound on my heart and said “no” I wonder though cause I have a lot of those descriptions… Long arms, fingers, tall, thin, stretchmarks, etc.

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  9. I love this blogging thing – you learn something new all of the time! I had never heard of Marfan’s.

    My DH recently was diagnosed with Afib, which has since been brought under control, but it was very scary to deal with a medical scare of the heart.

    It sounds like you are doing well and are able to take advantage of the wonderful medical technology that we have available to us.

    Take care :-)

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  10. This is an absolute wealth of information. Thank you for sharing this! I had never heard of Marfan Syndrome before, and I am so glad to have learned about it. Thank you!

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  11. thank you for this detailed explanation!

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  12. So glad I found your web site. We are watching one of my kids for Marfan. It is probably ruled out by now but because of the “pre-existing condition” crap that until recently, was part of healthcare, our doctors were very leary of doing the genetic testing for fear of it being on all the paperwork.
    Will be back. Possibly with questions.

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    marfmom Reply:

    I’d be happy to answer any questions you have! The diagnostic criteria for Marfan recently changed, and with it the criteria for monitoring children who may have it, just in case you/your child’s doctors didn’t know: http://marfmom.com/archives/2319 (periodic echoes until age 20 is one of the recommendations; not sure if I included that in the article I wrote or not).

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  13. I did not know that marfan’s had so many different affects on people. I say that because I now am more and more curious if my children have marfans. My husband is 6 ft 8 in tall. He has a Bicuspid Aortic Valve and had a mitral valve prolapse. My children area all three in the 100% for their age group and two of them are extremely skinny. Will be calling the doctor shortly after I post this message. :) I think that understanding this complex condition is key. Thanks for sharing Marfans 101. I would have probably not thought much about it, since my husband keeps saying he doesn’t have Marfans. Reading this I believe he does have Marfans and I want to check my children to see if they will have any of these issues. thanks again! Great information and Blog!

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  14. Interesting. Docs still on the fence as to whether or not I have it. Echo normal so far…What is the best way to know for sure? I have 2 kids and need to know for them.

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  15. Thank you for explaining this so well. As I was reading, I realized that I have encountered Marfan before. It’s a key plot point of the book, “The Husband’s Secret” by Liane Moriarty.

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    marfmom Reply:

    Yes, it is! I haven’t read it yet, but it’s on my list!

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