Marfan Syndrome

In our lives

Hi there, and welcome to my Marfanís page. First of all let me tell you a little bit about us. My name is Michelle and I'm 28 and divorced with 3 children. My children are Yana, 11; Chuckie, 9; and Michael, 6.

My daughter was diagnosed with Marfan's Syndrome in February of 2000. This led to the rest of the family being tested including my mom since they were fairly certain that I had it when they diagnosed Yana.

As it turned out, they were right, I had it. (Since Yana was found to have it and I am 6 foot tall with some of the physical characteristics, I was not surprised.) Along with Yana and myself; Michael, the youngest, was found to probably have it. Since then they have decided that he does have it. That leaves Chuckie and my mom.

They are not sure if Chuckie has it or not. He has a few of the signs but not enough to say for sure. He has to have echocardiograms every year until either he is an adult or they can diagnose Marfanís. Of course if they do diagnose him with Marfanís he will still have to continue having echoes every year like the rest of us.

They don't seem to think that my mom has Marfan's Syndrome. The family is not as sure as the doctors are, however, so she is going to keep an eye on her heart just to be on the safe side.

It was a rather strange situation that discovered Marfan's in our family. Yana had one of those standard eye tests that they do at the school and they thought that she probably needed glasses. This was back in October of '99. So I took her in to see the eye doctor. The doctor took one look at her eyes with one of those thingies and knew that something was wrong. Both of her lenses were dislocated to the point that he did not even need to dilate her eyes to see the edge of them. The edge of her lenses is in the center of her vision. He didn't finish the exam. He said that it is so rare that he has only seen one other case of dislocated lenses and that it was in a Marfan's Syndrome patient. At the time I didn't know what Marfan's was so I did as much research as I could.

The eye doctor sent me to an eye specialist. We couldn't get in to see her until December. When we finally did she didn't say much that was different from what the first doctor said. She said that she didn't want to even touch her eyes because she had not seen enough dislocations to feel comfortable about doing it. She sent us to the University Hospital.

Of course we couldn't get in at the University until February. They decided to have her see a Cardiologist and a Geneticist also so we had to work all these appointments into 2 days. We have to drive 300 miles just to get there so we did not want to make two trips unless we had to.

In the end they said that she had Marfan's and thought that I probably did also. (I was not even seen that day they just figured with Yana having it and me being 6 foot tall and disproportionate it was likely.) They had also planed on removing Yana's lenses in the summer.

That summer we all went up there and they decided that she was seeing more than they thought she was and decided to wait, as long as they can correct her vision with glasses. (Praise the Lord) The good thing about waiting is that technology can improve and increase her chances of seeing better when they finally have to do the lens removal or replacement.

In a yearís time, I went from having never heard of Marfan's Syndrome to knowing more about it then the family doctor I had at that time. The most I had heard about it was that Abe Lincoln had some kind of a disorder that was affecting his heart and that if John Wilkes Booth had not shot him he probably would have died from the heart problems within a couple of years. Even knowing this much of what was then useless information, I did not know the name of the disorder that Mr. Lincoln had. Now I know that it was Marfan's Syndrome.

I am not going to go into great detail about the syndrome itself. I will only list a few of the possible symptoms. If you want to more than that, I highly recommend that you visit the National Marfanís Foundation web site or contact a local chapter.

Symptoms can include: being tall with disproportionate arms and legs; long fingers and toes; loose joints i.e. double-jointed; dislocated lenses along with other eye problems; dilated aorta; Miteral Valve Prolapse; intestinal problems; and many others.

One thing that does not go with Marfan's Syndrome is a mental retardation. People with Marfan's Syndrome tend to be very intelligent. Marfan's Syndrome affects connective tissue and since every part of the body contains connective tissue Marfan's Syndrome could possibly affect anything. However, it is very rare for one person to have all of the possible problems. For example, my children and me all have the eye problems and some aortic dilation but none of us have the intestinal problems. Of course I have met people online that have the opposite situation they donít have any eye problems but do have the intestinal problems. Perhaps that is one of the reasons it is often misdiagnosed or undiagnosed.

National Marfan Foundation

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updated on August 8, 2004

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