'We want him to be totally normal'

NEWTON -- Other than being taller than most of his playmates, third-grader Henry Floyd blends in easily whether in a schoolyard kickball game or a neighborhood touch-football scrimmage, which on a sunny spring afternoon attracts a group of roughhousing boys eager to practice their best Tom Brady and Tedy Bruschi moves.

Five feet tall and weighing a feathery 87 pounds, Henry, 9, is built like a beanpole, yet he seldom shies away from sports involving at least incidental contact. He also enjoys golfing with his dad, taking tennis lessons, playing Little League baseball (he's one of his team's star pitchers), rooting for the New England Patriots, reading suspense stories, and composing word puzzles. Someday he hopes to become an artist. Or make television commercials. "Funny ones," says Henry, who's a student at Newton's Angier Elementary School.

Janet Panaggio, one of Henry's teachers, calls him a "normal, typical kid," albeit an unusually thoughtful and insightful one. Another teacher, Mimi Concannon, says she's never heard a schoolmate tease Henry about his lanky build, long arms, eyeglasses, or anything else that might make him seem different somehow.

"He has a presence in the classroom that supersedes any other issue he might have," Concannon says admiringly.

The fear for Henry's parents is that he might also blend in easily -- too easily -- in a hospital emergency-room setting. Should doctors fail to recognize his special medical condition, there could be dire consequences, potentially detonating the "ticking time bomb" that worries families like Henry's on a daily basis.

"We want him to be totally normal," says his mother, Heather Holmes Floyd. "But knowledge is power, too, because without it, he might not be here."

A difficult diagnosis
Henry has Marfan syndrome, a genetic disorder that affects the body's connective tissue. It is estimated that 200,000 Americans have the heritable condition, which shows no bias toward race or gender and can be stubbornly tricky to diagnose.

Physical characteristics are often quite distinctive. They include disproportionately long limbs, curvature of the spine, chest-wall deformity, fingers that bend backward at the joints, flat feet, and nearsightedness. Not all manifest themselves, and no two or three definitively add up to Marfan.

The most serious abnormality -- an enlarged aorta that can rupture without warning if enough elasticity is lost -- is unobvious and only diagnosed by echocardiogram, an expensive test that's anything but routine. Confirming the disorder in someone like Henry typically occurs only after he has been evaluated by several specialists. No simple blood test exists, and no cure is on the horizon, although with proper medical attention life expectancy has moved steadily upward.

In the late 1970s, when he discovered he had the disorder, Richard Saltus was in his 20s and suddenly facing an uncertain future. At that point, life expectancy for someone with Marfan was 41 to 49 years. "It was a terrible time-bomb feeling," recalls Saltus, 58, a former Boston Globe medical writer now working for the Dana-Farber Cancer Institute. "Things were a lot dicier then. You'd see people in a lot of psychological distress over this, not just medical distress."

A quarter-century later, treatment and preventative measures are vastly improved. New studies show someone with Marfan can expect to live a normal life span. "I'm fortunate in being only mildly affected, but that's encouraging news for everyone," says Saltus, a past president of the Massachusetts chapter of the National Marfan Foundation.

Beyond promising developments in treating the disorder, Marfan has an interesting, if somewhat speculative, connection to a number of prominent historical figures. Charles de Gaulle, Mary Queen of Scots, Niccolo Paganini, Sergei Rachmaninoff, and Abraham Lincoln have been suspected of having the disorder, based on their body types, facial characteristics, medical histories, and other factors. Lincoln's case in particular has sparked spirited debate within the medical community since the hypothesis was first raised 40 years ago.

Pro wrestler Andre the Giant, who died in 1993 of a heart attack, also has been speculatively linked to Marfan, as has Osama bin Laden, according to media reports published before and after the Sept. 11, 2001, attacks. To the extent the public hears much about Marfan at all, however, it's usually due to the sudden death of someone newsworthy or to its being written into an "ER" episode, as occurred in 2001.

In 1986, US Olympic volleyball star Flo Hyman collapsed during a match and died from a burst aorta. Her Marfan had gone undiagnosed. Ten years later, Pulitzer Prize-winning playwright Jonathan Larson of "Rent" fame died in similar fashion right before the play's Broadway opening. In Larson's case, doctors at two hospitals failed to heed the warning signs of what was likely a Marfan-related aortic dissection. (The link was never conclusively proved.)

Since Larson's death, the playwright's family has vigorously supported the National Marfan Foundation and other groups involved in research and education efforts. Larson's legacy will be highlighted tomorrow night at a gala private performance of "Rent" at the Wang Center, with proceeds benefiting the foundation's Emergency Room Education Campaign.

"Thousands of Jonathans die in the same way every year," says Al Larson, the playwright's father. While each fatality is devastating, he says, "knowing the loss might easily have been prevented makes it that much worse."

That being said, members of the extended Marfan community -- patients, parents, physicians, and others -- admit they face an uphill battle for public awareness and clinical resources. Boston, for instance, has no clinic dedicated to adult Marfan patients, whereas Chicago has three.

"It's not a sexy illness," says Suzanne Kouri of Lexington, president of the foundation's Massachusetts chapter and mother of a 3-year-old boy, Yamil, who has the disorder. "The numbers are significant but not overwhelming. Some people think it's no big deal: You can always replace an aorta, right? And most don't know about it at all."

Kouri, a nurse, and her husband, a physician, had trouble persuading doctors to pursue the Marfan angle with their son, despite their own medical expertise and intuition as parents. Kouri says doctors frequently downplay features such as abnormally large size and flexibility, telling a worried mom it's a sign her baby will "excel in basketball" someday.

"Getting a label is really important, though," Kouri says. "It becomes part of your identity."

Since it began funding research in 1989, the National Marfan Foundation has doled out or committed about $2 million in grant money. Annual funding by government agencies and other sources for two leading institutes that study aortic dissection -- sometimes Marfan-related, sometimes not -- totals $3 million to $6 million, according to Josephine Grima, director of research and legislative affairs for the foundation.

"It's extremely underfunded," says Grima, "because we're just beginning to understand the underlying mechanisms" of aortic aneurysms and dissections. "Research is very promising," she adds, because "we can now look for drugs that prevent or delay the onset of vascular deterioration. But the number of people doing it is extremely limited."

Living with Marfan
The Floyds learned about Marfan when their middle child, Henry, was 3. For weeks they had noticed that one of his eyes had been fluttering. When Henry subsequently got sick and was taken to his pediatrician, the doctor examined the eye more closely and recommended the boy be seen by an ophthalmologist.

The ophthalmologist, who by happenstance knew something about Marfan, referred Henry to Boston's Children's Hospital for a cardiology appointment. During the week in between, the Floyds scoured the Internet for information about the disorder.

"It was scary, but we didn't think he had it," says Henry's mother, a medical social worker who had never heard of the syndrome. After the diagnosis was confirmed by echocardiogram, the Floyds contacted the National Marfan Foundation to find out more.

"It was very difficult at first," Heather Holmes Floyd says. Her husband, who sells brain-monitoring devices, "switched into his clinical mode," she recalls. "Me, I checked into my emotional mode."

There have been scares for the Floyds. Twice, at age 4 and 8, Henry was rushed to Children's with chest pains. He now takes a beta-blocking drug daily to reduce stress on his aorta and wears a neck tag identifying both the drug and the disorder it treats. His school nurse knows to have Henry transported to Children's -- not the closest hospital -- should he need emergency treatment for heart-related problems. Henry returns to Children's every six months for retesting. His most recent echocardiogram, in late May, fortunately showed only a minimal increase in aortic dilation. In the long run, though, surgery may be necessary to repair or replace the most damaged part of his aorta.

"Henry hasn't needed surgery and may not even know that's a possibility," says Dr. Ronald Lacro, a cardiologist and geneticist at Children's who treats Henry and other Marfan patients. "You don't tell a 4-year-old he may need surgery before he gets to high school. A 13-year-old, you might tell."

"There's always the immediate shock, and a continuing toll it takes," Lacro says. "But having said that, it is a manageable condition."

Lacro involves young patients in discussions about their medical situation as soon as he senses it's appropriate. The conversation deepens as concerns about body image and sexuality surface, says Lacro. When the issue of playing sports comes up, Lacro adds, he's reluctant to authorize any young patient to play competitive sports, especially collision sports like tackle football. But even a sport like tennis can be dangerous if the stress levels get high enough.

"The hard part of medicine for me is working with the families," says Lacro. "Rigid guidelines don't work. A lot depends on the coaches -- and the kid."

For kids like Henry, living with the disorder goes beyond taking pills and avoiding high-risk activities. At school, teachers, administrators, and coaches know about Henry's condition, as do a few close friends. Most classmates do not.

His fear up until now, says Henry, is that other kids "might not want to be near me anymore" if they know he has some sort of heart condition.

Does he think about his medical situation very much? "For some reason, I think about it a lot," he says, sitting on a living room sofa at home in Newton. "Every month, probably. But not every day."

What does he think about it?

"I think that my heart runs in a different way," he says. "That's it. Not that I'm worse than anyone, or less intelligent."

A few friends "know I have this heart thing and they can't be too rough on me," he goes on, before pausing and smiling. "But my friend Matt still jumps on me sometimes."

When asked whether he worries about violent collisions while playing sports like football, Henry shakes his head.

"No," he says. "My mom's the worrywart."

While they agree on most strategies, the Floyd and Kouri families differ on the sports issue. Kouri and her husband have already ruled out competitive sports for Yamil. It's particularly hard, she says, because her entire family loves sports. Instead of soccer, Yamil is being introduced to chess.

"It's a very tough call, especially for boys," Kouri notes. On the other hand, she says, letting a child get accustomed to playing sports only to take it away later, when health risks increase, can cause anger and depression.

Heather Holmes Floyd admits to a twinge of anxiety every time Henry jogs outside to play.

"I have to remember it's all about me," she says, watching Henry lope downfield during a touch-football game, elbows flailing. "Henry doesn't share my sadness."

Joseph P. Kahn can be reached at jkahn@globe.com.