"What's Up With That!?" - Marfan Syndrome - ABC 33/40 - Birmingham News, Weather, Sports

"What's Up With That!?" - Marfan Syndrome

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Brandy Samples Black says she's come a long way since she was first diagnosed with Marfan Syndrome.

She wants others to know about this potentially fatal condition.

"I had the heart murmur, my natural eye lenses were detached. I couldn't walk, I couldn't talk." Black was diagnosed with marfan syndrome when she was five-years-old.

"I wasn't allowed to play sports. I wasn't allowed to rip and run with the other kids. Because any little thing could have made me extremely sick or killed me."

Black says there's no history of Marfan in her family.

"It affects all of your muscles. I had to go through physical therapy, through speech therapy."

The Marfan foundation estimates nearly 200,000 people in the United States have this genetic disorder that affects the body's connective tissue.

The syndrome has varying degrees, from mild to severe. It can affect lungs, eyes, the skeleton, and the hard palate.

However, the most serious complications include defects to heart valves and the aorta.


Dr. Farrell Mendelsohn is a cardiologist. He know marfan syndrome can be fatal.

"Particularly with the enlargement of the aorta, because what can happen is that the wall of the aorta can get weak," says Mendelsohn. "The aorta can then dilate, or enlarge, and if the aorta tears, it's called an aortic dissection, that's the most feared complication that usually results in death."

Treatment can be difficult. "It has to do with treating the abnormal effects of the the gene, so if the aorta became enlarged, to a certain degree, replacing the aorta would be one option," says Mendelsohn.

A Marfan syndrome diagnosis, is based on family history, and a combination of indicators.

Geneticist, Doctor Nathaniel Robin, says it can be easily diagnosed. He encourages anyone with a family history to get checked out.

"It is scary, I won't lie, it is a very scary thing to find out you have Marfan's syndrome," says Robin. "But, like everything, it's much more valuable to your long term health to know you have it, deal with it and then move forward."

Even if an individual has some symptoms associated with the syndrome, it may turn out to be something else. 

"I would rather see ten people who have it, than miss that one person who does. Because, when you see the one person who does, you know you're really intervening and helping them."

Black echoes that statement.

"One person left undiagnosed, is one person too many."


There is a Marfan support group in Birmingham.  You can find more information on marfan.org.

You can also contact Amber Harbison, who is head of the local chapter by email, amberharbison@aol.com.

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