Diagnosis of Rare Syndrome Aids Family

Secondly, people with Marfan syndrome are placed on exercise restrictions and are told to eschew competitive sports where they exercise to the point of exhaustion. Contact sports and isometric exercises such as weightlifting are also restricted.

Finally, people with Marfan may eventually require surgery to remove the enlarged portion of the aorta. "Once that is done, it is thought that the person is at very low risk for something to happen to any other part of the aorta. It is a very safe and very effective procedure," says Dietz.

Growing Up with Marfan Syndrome

Mimnaugh, now the mother of three, has detected Marfan syndrome in her two daughters, 15-year-old Marissa Civallos and 2 ½ year-old Maria Elena.

"Originally I didn't think I would have any children for fear of passing on the gene," says Mimnaugh. But a meeting with a physician changed her perspective. "He asked me if I thought my life had been worthwhile till [my diagnosis]. I said yes. He said how could you deny that to another human being?"

Mimnaugh suspected that her daughter Marissa had Marfan from day one based on her appearance when she was handed to her after delivery. Her heart was closely monitored with yearly echocardiograms and she was placed on a beta blocker at age seven. "She leads a pretty normal life," says Mimnaugh. "I have been very careful not to make this dominate her life."

Mimnaugh thinks that the fact that Marissa has known about Marfan syndrome has made it easier to adjust to the challenges it presents.

"I have many patients with Marfan syndrome and I find that it is very traumatic for a teenager who doesn't know that the diagnosis runs in the family to get the news," she adds. "It was traumatic for me when I first heard it."

With close monitoring of her family's health and the advances that have been made in treating the syndrome, Mimnaugh feels hopeful about the future. "We feel blessed that we know about it because now we are able to do something about it."

To hear more about teenagers coping with the diagnosis of Marfan syndrome, watch ICU: Arkansas Children's Hospital Wednesday night at 10 p.m. ET on ABC.

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