Good news greets Marfan conferees


It's for the family reunion that actor Vincent Schiavelli keeps coming to National Marfan Foundation meetings.

"It's really great to see all the genetic family," said Mr. Schiavelli, perhaps best known for his role as the subway derelict in the movie "Ghost."

"We all sort of look alike in an odd sort of way, a body crooked, willowing through space," he said after giving the keynote speech yesterday to this year's meeting at Johns Hopkins Medical Institutions. "We all have the same sort of timbre in our voice. They're all sort of breathless because they need their hearts fixed."

Marfan syndrome is a genetic disorder of the connective tissue in skin, muscles and organs. Symptoms include tall and gangly stature, long arms and hands, nearsightedness, overly flexible joints and a stretched aorta, the main blood vessel of the heart.

Abraham Lincoln is thought to have had Marfan. The syndrome has received greater public attention since the deaths of two star athletes -- Olympic volleyball player Flo Hyman in 1986 and University of Maryland basketball player Chris Patton in 1976. Each died during competition when a Marfan-weakened coronary artery burst.

Last year, research at Johns Hopkins and the Shriners Hospital in Portland, Ore., culminated in identifying the gene responsible for the syndrome. The discovery can provide for easier and earlier diagnosis, so that patients can begin to manage their lives and seek treatment that would prevent or delay potentially fatal complications.

This year's conference was the first in which scientists could explain to patients and their families the significance of the breakthrough. Dr. Reed Pyeritz, clinical director of medical genetics at Hopkins and one of key contributors to the discovery, said besides explaining the science of the discovery, scientists at the conference were trying to "keep people's expectations appropriate."

Some patients have approached to ask "when is it going to be cured." But Dr. Pyeritz's recent work on the syndrome took almost 10 years, and he can only estimate that treatment at the genetic level may be at least another 10 years away.

Some patients at the three-day conference, which ends today, talked of how doctors had missed their symptoms for years. Marfan, which occurs in about one of every 10,000 people, is relatively rare. And, "physicians tend to learn about what they see," Dr. Pyeritz said.

One man, who declined to identify himself for the sake of his son, who was diagnosed four years ago at age 8, said doctors didn't check for Marfan syndrome until a nurse who had read an article about it urged them to do so.

"He was very tall, very thin," the man said of his son, "and they just said, 'Eat a lot,' "

Many of the conference workshops offered practical advice on how to live with the disease and how parents can deal with children who show signs of it.

Kathryn Thompson came from Vancouver, Wash., to get advice about her 11-year-old son who was recently diagnosed. Her son must avoid many of the team sports that his friends play. "I'm sure he feels a little bit different from other children," she said, but added that her son has since taken up golf.

Some limitations imposed on Marfan patients in earlier years were unnecessary. Mr. Schiavelli was told that he would die at an early age, he remembered, and that "if I hit my head too hard I would go blind. I walked around balancing my head on my shoulders so it wouldn't get bopped."

Mr. Schiavelli, 43, was diagnosed at age 9 by an eye doctor "who was an Abe Lincoln fanatic," he said. A few years ago, he underwent heart surgery to replace a leaking heart valve.

"Now I'm free to die from anything else, just like you," he said. Because of the blood-thinning medication he takes, "I can't sky-dive, hang-glide or ride on the shuttle," he said, with delight. "I can't carry my own luggage. Aw . . ."

As an honorary chairman of the National Marfan Foundation, Mr. Schiavelli raises the public profile of a syndrome most people know little about. And his talks at conferences, full of humorous personal reflections on living with Marfan, add another dimension.

Thanks, one conference-goer told him, "for taking a little of the seriousness out of this whole business."

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