After diagnosis, Baylor University star highlights Marfan Syndrome

The towering height that helped 20-year-old Isaiah Austin shoot to the top ranks of the NBA draft this year also was a symptom of the genetic disorder that, less than one month ago, ended his pro career before it began.

But the 7-foot-1-inch Baylor University student counts himself lucky — at least it didn't end his life.

Austin learned he has Marfan syndrome thanks to a blood test administered during the NBA draft process. Sometimes the diagnosis of the connective tissue disorder — which can cause the aorta, the main vessel that carries blood from the heart, to grow until it bursts — comes too late.

"It's hard when your dream is taken from you, but at the same time I have to take a life's perspective," said Austin, who announced Saturday in Baltimore at the 30th annual family conference of the Marfan Foundation that he would become an official spokesman for the group. "It did save my life, and I am thankful for that."

About one in 5,000 people have Marfan syndrome, a rare progressive disease that can affect different organs and tissues. Common signs include heart and vision problems, curvature of the spine, and long arms, legs and fingers.

The disorder gained public attention in 1986 when Flo Hyman, a three-time All-American volleyball player, collapsed and died of a ruptured aorta during a match in Japan. Among its other victims was Chris Patton, a University of Maryland basketball player who died during a pickup game in 1976.

Life expectancy for those with the disorder has grown enormously since the 1940s, when Johns Hopkins University professor Dr. Victor McKusick pioneered an early study of its genetic origins. Today, those diagnosed with the disorder have the life expectancy of the general population, thanks to advances in aortic surgery and other treatment.

A team that included Hopkins researchers identified the gene linked to the syndrome in 1991. Current research is focused on understanding how the gene interacts with other molecules, in the hope of ultimately finding a way to prevent the abnormal tissue growth.

Harvard Medical School professor Dr. Ronald V. Lacro is part of a team set to release results later this year from a human trial of Losartan, a common drug used to treat high blood pressure that in mice has blocked the elevated levels of a protein, TGF beta, believed to cause the problems.

"It was nice to know the gene, but that didn't change treatment," he said. "A lot of the benefit up until now has been because of surgery. Now we're more hopeful that the medicine will prevent the need for surgery."

But the research advances can only help those who know they have it, he said.

"One of the important parts of managing this condition is identifying people who actually have it, because if we know you have Marfan disease, we're going to treat you very differently," Lacro said. "The tragedy is that some people don't get diagnosed."

Many people inherit the disorder, but in others, such as Austin, it can occur spontaneously, making it hard to detect. Austin was joined Saturday at the Baltimore Marriott Waterfront Hotel by Ron Williams, CEO of the Cash Money Records music label that represents artists such as Drake, Lil Wayne and Nicki Minaj.

Williams, 43, learned he had Marfan syndrome after he felt ill, checked himself into a hospital and was told he had two weeks to live — at the age of 36. As he became more informed about the disease, he became more alarmed about the series of misdiagnoses he had received, including asthma and heart murmur.

"The doctors that I knew, they didn't know what to do," he said. "My thing was we've got to educate and bring knowledge." He said a lot of people, including many doctors and nurses, don't know about the disease.

Austin said knows his routine of three multihour workouts each day is over, but his life is not. He's devoting some of that energy to being a spokesman, plans to finish college and will remain involved with the basketball team as a coach.

"Basketball didn't define me as a man. My faith defined me and my education does," he said. "There's many more things that I can do."

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