His Heart Will Go On

This Following is a reprint of an article from the Star Ledger by Amy Ellis Nutt

As he rode the train into work on the morning of Sept. 11, Stephen Roach had no idea that the sheaf of papers he carried inside his briefcase would become, in one brief shattering moment, his legacy.
Roach was vice president and director of sales for Cantor Fitzgerald Securities and had an office on the 105th floor of One World Trade Center. He was also a man who loved causes, especially the difficult ones. Before he died in the attack on the Twin Towers, Roach's most recent cause was raising awareness of an extremely rare and incurable bone disease called Fibrodysplasia Ossificans Progressiva, or FOP. When he left his home in Verona on that second Tuesday in September, Roach was carrying with him articles about the disease and a proposal he was working on for a way to raise money for a cure.

The cause was personally important to the 36-year-old executive -- his daughter's best friend, 10-year-old Whitney Weldon, had just been diagnosed with FOP, a disease that will slowly, but inexorably, immobilize her.

So when Stephen Roach's wife, Isabel, held a memorial service for her husband two weeks after he disappeared in the rubble of New York City's tallest buildings, she asked that in lieu of flowers, donations be sent to the Weldon FOP Research Fund at the University of Pennsylvania Medical Center in Philadelphia. The fund, initially set up by Peter Weldon, Hillary Weldon's brother-in-law, became a way for Isabel Roach to focus on something positive. For her children -- Stephen Jr., 11, Eileen, 10, and 9-year-old Mackenzie, Whitney Weldon's best friend at the Pingry School -- it would be a way to keep their father's memory alive.

"I went to them and asked them what the next step should be," says Roach, who is 37. "I'd done everything I could to find Dad, and I needed them to tell me what they thought we should do. That was when Mackenzie said we should set up a memorial fund in Dad's name. I looked at them and asked them why not do something for FOP, and their faces lit up. So we decided that's what we'll do, make FOP our mission so we can help Whitney. It really gives us strength."

Frederick Kaplan, Whitney's doctor and the world's leading authority on FOP, knows Whitney will need all the help she can get.

"We're combating a form of genetic terrorism," says Kaplan, Chief of the Division of Metabolic Bone Diseases and Molecular Orthopaedics at the University of Pennsylvania Medical Center. "It is insidious and invidious. It is a bomb that literally explodes inside these kids. We don't know when it's going to strike or how long it will last. We just know it's progressive."

Fibrodysplasia Ossificans Progressiva is an academic sounding name for a nightmarish condition. Once known as "Stoneman's disease," FOP begins with a mutant gene. Early in childhood, usually between the ages of 2 and 5, the gene suddenly triggers painful swellings of the muscle tissue. In response to the perceived wound, the FOP body heals itself by doing something incomprehensibly horrific -- it turns the muscle into bone.

At a benefit for the Weldon FOP fund, held in a private home in Summit in late October, Dr. Kaplan explained the disease by asking a question: "How many people in this room wake up in the morning and feel stiff?" --Lots of hands. --

"How many people in this room wake up in the morning and feel stiff -- and then never move that limb again? Right. Nobody."

The muscles and connective tissue in the neck and back are affected first, with the neck sometimes fusing to the spine so that the person can no longer move his head. Then the muscles and ligaments in the shoulder joints, the hips, elbows, knees, wrists and ankles become bone. Finally, it hits the jaw.

These people aren't just forming little bones here and there," says Kaplan. "They are forming a whole second skeleton. It doesn't necessarily look like the first one, but that's what it is, and it's extraordinary. You never see the brain turn into the pancreas or the kidney turn into the heart. But here you see perfectly normal tissue turn into perfectly normal bone. It has marrow; if you break it, it heals. It's normal in every way except one -- it shouldn't be there."

Kaplan has documented 315 cases of FOP in at least 37 different countries. In the U.S. there are at least 200 cases of FOP; 10 of them are in New Jersey. There is no cure for the disease and no medication that slows its progression, though Kaplan's research team at the University of Pennsylvania is closing in on locating the defective gene.

What is most chilling, is that any trauma to the body, from surgery to a sprain to a simple inoculation, speeds up the disease process exponentially. Wherever there is a bruise or a wound or a bump, new bone will begin to form. Patients can "lock up" overnight, says Kaplan. Like the Tin Man in "The Wizard of Oz," their arms or legs suddenly freeze into whatever position in which they were last, never to move freely again. Any attempt to remove the extra bone will only lead to explosive and catastrophic new bone growth.

Whitney's disease announced itself during spring break this past March. On a ski vacation with her family in Colorado, Whitney kept complaining of a painful stiff neck. When her parents took her to the local hospital, however, the X-rays were negative.

After returning to their home in Westfield, Hillary and Bill Weldon took their daughter to Overlook Hospital in Summit for a CAT scan. This time the doctors did see something, they just couldn't understand what it was.

"There was a completely separate bone in her neck that wasn't supposed to be there," says Weldon. "And all these doctors kept coming in and out, saying they'd never seen anything like it before."

Orothopaedic specialists at the hospital suggested Whitney be seen by Fred Kaplan in Philadelphia. Within two minutes, Kaplan gave the family the diagnosis. It was FOP.

Seven months later, Whitney is unable to move her arms above her head. She occasionally loses her balance and is partially deaf, the result of abnormal bone growth in her inner ear. Nonetheless, the Weldons, who also have an 11-year-old son, William, want their daughter to feel like she can do everything, or almost everything, that other children do. So Whitney performs the drills at soccer and field hockey practice, but does not play in the games. She participates in gym class when it is held outdoors, but refrains when it is inside on the hardwood floors. And she's hoping to try out for the cheerleading team.

FOP is incurable, but not fatal. The muscles of the diaphragm, tongue, eyes, face and heart are characteristically spared. Nonetheless, it can lead to death if jaws freeze shut and a patient cannot eat, or if a body hardens in a position that makes breathing difficult, leading to respiratory failure.

Kaplan, who has been researching FOP for a decade, admits finding a cure is an uphill battle. Tissue biopsies and blood samples can't be taken from FOP patients because the small wounds to their bodies would only accelerate the abnormal bone growth. Still, says Kaplan, his group of 15 scientists is "determined to find an answer, no matter how long it takes."

Finding an answer to the mystery of FOP is made all the more difficult because it is considered an "orphan" disease. There are 6,000 rare diseases in the United States that are categorized as such by the Orphan Drug Act of 1983, which means they are diseases that impact fewer than 200,000 Americans. Because so few people are affected, research money is hard to come by, not to mention the interest of pharmaceutical companies who have little incentive to invest in new drugs for so few people.

Though FOP is frequently misdiagnosed, the International FOP Association estimates that 1 in 2 million individuals are affected by the disease. And Kaplan believes a cure for FOP will open doors to treatments for a host of other bone conditions, including osteoporosis and rheumatoid arthritis.

Ten years ago, Kaplan had just $20,000 in research money, all from private donations. Today, his lab's budget is half a million, 80 percent of which still comes from private contributors and 20 percent from the National Institute of Health. The Weldon FOP Fund already has brought in more than $30,000 since the Roach family's appeal.

Isabel Roach also wants to stage a golf benefit in the spring to raise more money for FOP, an annual event she hopes her son, Stephen, will one day take over.

"If I can find something good in the worst that is happening, that's a gift" says Roach. "These are hard times and I do hurt each and every day, and I know my kids hurt. But we're lucky to have such a good life and to have had such a wonderful person like Stephen in our lives.

"Hillary Weldon feels lucky, too -- blessed to have known Stephen Roach, and privileged to have his family take up his cause.

"He had such a presence when he walked in a room," says Weldon. "I never saw him without a smile. When we were all down at the shore in Bay Head for the weekend -- it was right before Labor Day; two weeks before he died -- he said to me, 'Come over here and look and see what I have in my briefcase.' He had downloaded everything about FOP, and he said we're going to get some money and we're going to fight this thing."

The tragedies of Stephen Roach's death and Whitney Weldon's illness, have brought an unusual kind of healing to the Weldons and the Roaches, their separate grief blending into a single cause. One legacy sustaining two families.

"We know who our dad is," Isabel Roach says about her late husband. "We know he is an angel now and he'll help us find a cure."

What is FOP?

FOP in an abbreviation for Fibrodysplasia Ossificans Progressiva ( fī'brō-dĭs-plā'zhə ŏ-sĭf'ĭ-kānz'  prō'grĭ-sī'və) previously known as Myosis Ossificans Progressiva. 

FOP is a rare and distressing medical condition where bone forms in muscles and other soft tissues of the body.

Whenever extra bone is formed across the joints it restricts movement. It is a progressive disease and there is no cure. It does not effect a persons intelligence. 

FOP affects 1 in 2 million people worldwide. It has no ethnic or religious pattern. 

There has been 700 confirmed cases across the globe from an estimated 2500. 

There are 285 known cases in the United States.

Whitney's Story