At 6 feet, 14-year-old Michelle Smith is much taller than most other girls her age. Despite her height, she weighs only 106 pounds.

Smith’s slim frame is the result of Marfan Syndrome, a genetic disorder of connective tissue that affects the organ systems, including the skeleton, eyes, heart and blood vessels. Even though some doctors believe as many as one in 5,000 people has the disorder, until recently, it was often misdiagnosed by many doctors.

It took five years for Smith to finally be diagnosed with Marfan Syndrome. Part of the reason is a lack of awareness, Smith said, adding that some doctors attributed her height to her father.

Now Smith is trying to promote awareness of the disorder and the importance of early diagnosis, which she hopes will save lives and allow others with the disorder to live long, healthy lives. If undiagnosed and not carefully managed, those with the disorder are at risk of dying or suffering severe disabilities.

‘Height is power’

Smith, an eighth-grade student at Scarborough Middle School, was diagnosed in 2003 at a clinic in Chicago after being misdiagnosed by numerous doctors and specialists.

Marfan Syndrome has limited some activities Smith can undertake, such as competitive sports. Smith was a cheerleader, but had to stop after being diagnosed because of the stress it put on her joints.

Smith also has to be careful in other areas of her life. She cannot carry a heavy backpack or let people jump on her back. She also has to take medication prior to having her teeth cleaned or other invasive medical procedures.

Instead of sports, she decided to begin modeling and entering beauty pageants. Last fall she was crowned Miss Teen Cumberland County International, and she is using her post to help make more people aware of the syndrome.

“You take something you can die from and make it something you will live with,” Smith said, explaining her philosophy on living with Marfan’s.

Smith is now in the process of producing promotional pictures containing information on the syndrome, which she will distribute when she attends pageant-related events.

“It gives her an outlet and a way to get this information across,” said her mother, Blue Smith.

Michelle Smith said there are some benefits to the syndrome, such as never having to go on a diet, although she already eats healthy. She also enjoys being tall and wears heals despite standing head and shoulders above most girls, especially those in her grade.

“I love it,” she said. “Height is power; it gets you noticed.”

The height and thinness does generate attention and not all of it flattering. Two of the most frequent questions people ask Smith are whether she plays basketball and whether she is on a diet.

Occasionally, people ask her if she is anorexic. When they learn she has Marfan’s, they usually feel bad, which doesn’t make those questions any better, she said, since a person should not be making fun of anyone’s condition.

But rather than getting angry when people ask questions like those or make disparaging comments, Smith uses the questions as opportunities to tell people about Marfan Syndrome and gives them a rubber bracelet produced by the National Marfan Foundation.

“I’m not shy and that helps,” she said.

Smith also likes to speak with young girls and tries to give them some guidance about enjoying the differences found in people.

“I don’t see why I would want to look like everyone else,” she said. “I want to show kids, especially little girls, that it’s OK to be different.”

Smith also provides information at her doctor’s office where she demonstrates some of the symptoms of Marfan Syndrome to other doctors. February is Marfan Awareness Month, and Smith is passing out informational posters at school to coaches and nurses.

A little known disorder

There is little research on Marfan’s, and there is just one book about the disorder. But it is believed as many as one in 5,000 people have the condition, and it is more common than Cystic Fibrosis and Muscular Dystrophy, Smith said.

Merrill Henderson, a genetic counselor, is fully aware of some of the dangers of Marfan’s syndrome and the importance of early diagnosis.

During her few years working at the Foundation for Blood Research in Scarborough she encountered about five cases and said the main reason why there seem to be more cases today is due to increased awareness in the medical community.

She has found that people with Marfan’s have a variety of symptoms. Some people might be tall, and others have back or spine problems or easily dislocated limbs. But the major characteristic shared by all of those affected by the disorder is unusually long fingers, toes and limbs.

While Marfan’s is normally passed through parents, the genes can mutate, and people without any history of Marfan’s can have the disorder. However, those with Marfan’s have a 50 percent chance of passing it onto their offspring.

This lack of understanding of Marfan syndrome is best seen in the life of Jonathan Larson, the playwright who wrote Rent. Larson died from an aortic dissection due to his Marfan’s after being sent home from two hospitals, one of which said he had the flu and the other food poisoning.

Aortic dissection, or a tear in the large blood vessel in the heart, is one of the major risks associated with Marfan’s Syndrome. If diagnosed early, there are preventative measures that can be taken, and, if necessary, a preventative surgery also can be performed.

But if nothing is done and the artery begins to move, the outcome is often fatal.

Doctors keep an eye on Smith to ensure this will not occur, and since Smith was diagnosed early and made some changes in her lifestyle, she is expected to live a normal lifespan.

Henderson said life expectancy for those with Marfan’s has steadily increased since the late 1970s, partially because of a better understanding of the disorder, but also because of preventative heart surgery.

For more information on Marfan syndrome, visit marfan.org.