Desperate parents chase a stem-cell miracle

Boston GlobeSeptember 2004

This article was part of a series recognized with the 2005 Pulitzer Prize in Explanatory Reporting. Additional information on EmCell is available here.

SUTTON — Many children have dreams about flying — soaring on wings, maybe, or zooming around like Superman. James Rossetti, a blue-eyed 15-year-old, says he doesn’t have any of those. He dreams about walking.

James, who has his father Ray’s dark hair, was a bustling toddler. He kicked around, Flintstones-style, in a bright yellow-and-red Little Tikes car. He loved baseball, just like his dad, and even with a fat Wiffle ball bat, Ray said, the kid had a beautiful swing.

But when James was 5, Ray and his wife, Karen, began to notice problems: an awkwardness to his gait, trouble walking on the stairs, occasional complaints of “sore legs.” They took James to the doctor for tests. The next day, Karen called Ray at work. She was sobbing so hard she could barely speak.

A nurse had just called, she said, and told her James had muscular dystrophy, a disease that destroys the muscles. First the legs go, then the upper body sags, and eventually, the lungs and heart stop working. There is no cure: Parents are left to watch as their children slowly fall apart, and hope — against the odds — that they make it past 25.

“It is just so unfair,” said Ray, choking up. “I kept thinking of all the things I have been able to experience that he will never get to do. I felt totally helpless.”

Then, last year, with James in a wheelchair and getting worse, the Rossettis discovered what seemed an answer to many nights of praying.

The couple had been hearing about the fantastic promise of stem-cell research, about cells that might grow new hearts, rebuild wasted bodies, and lift suffering patients from the brink of death. They had also been listening to the increasing complaints about President Bush’s restrictions on funding for embryonic stem-cell research in the United States. Ray and Karen, furious at the president, had vowed to go anywhere in the world to get help. “If it’s Mongolia, then it’s Mongolia,” said Ray.

One day at lunch, a Polish friend of Karen’s told her that she had been hearing about a clinic in Ukraine, called EmCell, that was giving “embryonic stem-cell” treatments to boys with muscular dystrophy. That night the couple looked through the clinic’s website. It had a long discussion of the power of embryonic stem cells. It cited a number of scientific publications by the clinic’s researchers. A single treatment cost an astonishing $15,000, but the results listed for muscular dystrophy were also astonishing.

“After transplantation of embryonic stem cells, patients show increase of muscular strength, improvement or even reappearance of lost reflexes, improvement of functions of internal organs, and improvement of mental and physical activity,” the website asserted.

The Rossettis immediately e-mailed EmCell. They were referred to another mother who had recently taken her son to the clinic, and was pleased with his progress. James’s doctor warned the family that the clinic sounded suspicious, and that he had never heard of any treatment having the kind of results that EmCell claimed, but one doctor’s caution couldn’t stop them from chasing the first hopeful news they’d heard in years.

A few months after their first contact with EmCell, on a cold November afternoon last year, the Rossettis — Ray, Karen, James, and his younger brother Jonathan — piled into a van and headed to Logan Airport, beginning a journey from their town outside of Worcester to the distant city of Kiev, where the skyline is dotted with golden domes. They were also plunging into a world, fueled by the power of the Internet and by the rhetoric of stem-cell advocates, where the potential cures of the distant future are being peddled as real treatments available today.

A frustrating battle

When James was first diagnosed, Karen and Ray began their quest for treatment conventionally, with muscular dystrophy specialists. But like many parents of children with muscular dystrophy, they soon became angry at the medical profession. In a time of seeming medical miracles — when renowned cyclist Lance Armstrong could beat cancer and go on to win the Tour de France — the Rossettis found themselves sitting in meeting after meeting as a doctor told them just how little could be done to help their son.

Despite some $50 million spent in research in the United States last year, and more than 30 years of Jerry Lewis telethons, nothing approaching a cure exists. There are many forms of muscular dystrophy, but Duchenne muscular dystrophy, which affects James and about 15,000 other American children — almost all of them boys — is one of the most serious. The disease is caused by a genetic mutation that prevents the body from making a protein that protects muscles. The best treatments available can alleviate some symptoms, but do little or nothing to lengthen a life.

As James got older, Ray recalled, his son’s deterioration often surprised him. One year, James was able to keep up with his fellow Cub Scouts on a trip to Battleship Cove in Fall River. The next year, he was not. Ray bought toy bow-and-arrow sets for the brothers, but James could barely pull back the string. And eventually they had to stop playing baseball in the front yard: James couldn’t hit the ball very far any more, while Jonathan, 3 years younger, could send it sailing across the street.

One day, when James was 10, the reality of the disease hit especially hard. The family was going to the Emerald Square Mall in North Attleborough, and James fell at the entrance.

“My stupid legs don’t work,” James screamed through frustrated tears. Shoppers walked through the doors around them, glancing at the boy sprawled on the floor. “My stupid legs!”

The disease subjects the parents to enormous pressure. In interviews, Karen, 48, a special education teacher in Worcester, and Ray, 51, a quality control manager at Fosta-Tek Optics in Leominster, spoke of the guilt they feel about James, even though they know his condition is not their fault. They worry about Jonathan and how he is holding up. They think about friends who don’t call any more, and wonder if it is because the friends feel awkward. They imagine what might be on the horizon, but also worry about whether they are doing enough to enjoy the moments they have.

“I remember thinking, ‘Either this is going to bring us together, or it is going to break us apart,’ ” Karen said.

The emotions are like riptides, pulling the couple in different directions. When James was 10, Ray and Karen took him to buy his first motorized wheelchair. Ray remembers how happy he felt to see James scooting around so expertly, with a new independence.

Karen burst into tears at the sight of James and couldn’t stop. Her mind filled with thoughts of milestones he will never experience, she recalled. First bike ride. First driver’s license.

She looked at James, smiling up at her from his shiny wheelchair, and thought: “No, that is not what I wanted for my son.”

Controversy clouds possible cure

What she wanted was a cure, and in embryonic stem cells she and Ray thought they might have found one.

The very idea of stem-cell medicine is an intoxicating one. Stem cells are among the body’s most versatile cells, with the power not only to replicate themselves, but also to transform into the more specialized cells that make up the body’s blood, tissue, and organs. These rare, potent cells play an essential role in the mystery of development — the entire human body makes itself from a single cell — and also play key roles in the body’s amazing ability to regenerate.

What, scientists have wondered, if that power could be tapped?

Over the last six years, scientists have become particularly excited about stem cells taken from human embryos just days after conception. First isolated in 1998, human embryonic stem cells have the potential to become any cell in the body. Such cells might one day be used to replace damaged cells, curing degenerative diseases such as Parkinson’s or juvenile diabetes.

But unlike many other promising areas of scientific inquiry, human embryonic stem-cell research has erupted into a very public debate. For every new batch, or “line,” of the cells, scientists must destroy a human embryo. On Aug. 9, 2001, Bush announced that the government would only fund research on existing lines of human embryonic stem cells, ensuring that the government would not be encouraging the further destruction of embryos.

For anyone listening to the escalating fight over embryonic stem-cell policy, which has become an issue in the presidential campaign as well as the national divide over abortion, it is easy to conclude that the research is on the verge of delivering cures. Opponents of the Bush restriction — including former first lady Nancy Reagan — have pleaded for a change on behalf of loved ones. Even the president, in announcing the restrictions, spoke of the cells’ power to help with Alzheimer’s disease, Parkinson’s disease, juvenile diabetes, and spinal cord injuries.

Yet the gap between the potential — the young field could revolutionize medicine — and the reality for patients is vast. Researchers can isolate the cells, but they do not know how to coax them to become many of the cells in the body. It is possible that the study of embryonic stem cells will yield knowledge that will lead to new drugs, but that is a long road, too. Today there is simply no embryonic stem-cell medicine.

But for patients and their families, these caveats can sound like an excess of caution.

“Because of all the hype, it makes stem cells seem like a secret that is not available to you,” said Pat Furlong, executive director of Parent Project Muscular Dystrophy, an advocacy group.

Ray and Karen recall going to a talk by a Children’s Hospital Boston stem-cell researcher. At one point, a parent asked how long it would be before his ideas might be ready for testing in patients. The answer: years, perhaps a decade.

Driving home, Ray and Karen felt disappointed and angry. “Why was he wasting our time?” Karen recalled thinking.

The Rossettis and other parents of children with Duchenne muscular dystrophy describe inaction as a toxin that threatens their sanity. Every day, they feel that there must be something more they can do. They feel the world does not understand the urgency of their situation. And these feelings, combined with the claims for stem cell’s promise, make for a powerful concoction.

EmCell, the clinic that attracted the Rossettis’ attention, is just one of many clinics that have emerged around the world offering to bridge the wide chasm between stem cell hopes and today’s proven medicine. The Globe found nine such clinics, including EmCell, all charging substantial sums of money. On patient-interest websites, there are rumors of many more.

EmCell, with its elaborate website, is one of the most sophisticated. The story it tells, of biological genius emerging from behind the fallen Iron Curtain, is one of the most compelling.

And this is how Karen and Ray came to board a plane with their sons, heading for a country they never dreamed of visiting, so a doctor they had never met could slide a needle into James and begin a series of injections. As their flight began to make its way over the Atlantic, the sun setting quickly behind it, Ray said he felt a little nervous, but also deeply relieved: Finally, he thought, I am doing something to fight the disease.

In Kiev, hopes rise

When the car ferrying the Rossettis pulled up to EmCell, in a mostly residential section of Kiev, they were met with a disturbing spectacle.

The clinic was located in one of the city’s public hospitals, and the building looked abandoned. At the entrance drive, paint peeled from a white sign emblazoned with red Cyrillic letters. One of the Rossettis’ family snapshots shows thick streaks of grime covering the aqua-and-cream colored exterior.

At a battered blue steel door, the Rossetti family was met by a man in a suit who pushed James into a dimly lit building. Inside, steel gurneys, decades old, lined the hallway. They followed the man around a corner and onto a slow, creaky elevator covered with posters of Orthodox religious figures and an ad for Orbit gum.

But then they stepped out on the seventh floor, passed through a gold-colored security gate, and felt they had arrived at another place entirely. The EmCell clinic was clean and well lit. In the waiting room there were flowers and an Iranian rug hanging from one wall. They were served tea, on saucers with doilies, Karen said.

They were greeted by the clinic’s founder and director, Dr. Alexander Smikodub, who told them that the “embryonic stem-cell” treatment would help their son — perhaps a great deal — but that it would not cure him.

Over three days of treatment, for several hours each day, James lay on a bed with bright white sheets, and the nurses treated him with a gentleness the Rossettis had never seen before, “like he was a crystal that could break,” Ray said. On the first day, James received injections of a liquid suspension — the Rossettis never got a close look at it — in his arm. On two other days, he received injections in his abdomen.

Even before they left the clinic, Karen and Ray said that James seemed more flexible: He was able to move his legs and arms further than before without struggling. And there was something about James that just looked different.

“It was like he was glowing,” said Karen. “His skin looked like a baby’s.”

When they returned home to Sutton, James said that he felt like he could think more clearly, an improvement Smikodub had told them they could expect. James said that he continued to feel this mental sharpness, but that the improved flexibility wore off. Smikodub had also told them to expect this, that to feel the full benefits, James would need at least three treatments at the clinic. The price of a second treatment was $10,000, and Karen and Ray were encouraged enough that they went back in April.

To pay for these treatments, the Rossettis were helped by friends, relatives, and strangers. A columnist for the Worcester Telegram & Gazette wrote about James’s plight, and readers sent money. His classmates at the Sutton Middle School organized a fund-raising dance.

After the second visit, when the Rossettis returned from Kiev, they watched James closely and pondered whether to go again. Everyone asked how James was doing. Except EmCell: The clinic did not contact them.

Mixed reports on treatment

Since first interviewing the Rossettis in late June, the Globe found 12 other patients who have visited EmCell with a variety of ailments.

Most of the families said their EmCell experiences were similar to the Rossettis’. Small improvements, at most, to begin with, and then their disease resumed its course.

Three of the patients have died of their disease since they were treated. Two reported lasting improvement.

One of them was the person to whom the clinic referred Karen when she first e-mailed: Maria Brodka, who has a son with Duchenne muscular dystrophy. Brodka said that her son grew stronger after one treatment, and then showed no improvement after a second treatment — but no deterioration either. (She has not taken her son for a third treatment.) Another Duchenne parent located by the Globe said that her child, who has had two treatments, seemed to be getting better, but is now getting worse. A third Duchenne parent said the one treatment their son was given had no effect.

Of the nine patients with other conditions, seven said it provided no benefit. One said that the treatment helped his multiple sclerosis, but he has also been undergoing other treatments. Another said that his condition has continued to get worse, but that he believes the EmCell treatment has slowed its course.

It is hard to draw medical conclusions from these reports because EmCell does not conduct any scientific testing of its patients that would unambiguously show whether its treatment helps. None of the patients interviewed by the Globe said that EmCell regularly contacts them to chart their progress.

After more than a month of phone calls and e-mails, EmCell’s director agreed to an interview with the Globe.

Smikodub’s office sits at the end of the clinic’s long central hallway. To American eyes, the room has a distinctly 1980s look — dark, shiny furniture, gray carpet streaked with little diamonds of color– combined with Eastern European touches, like a set of gold-gilt crystal goblets on display. Near the door is a large bust of Smikodub, draped in a handful of badges from scientific conferences. Two tiny chandeliers hang from the ceiling.

Smikodub, 55, has white hair, brown eyes, and dark eyebrows. He wears a white doctor’s coat over a white Reebok shirt. The clinic’s work, he said, began a decade ago with research he was doing into the properties of cells taken from aborted fetuses.

Smikodub, who said he is a physician and has a PhD, began injecting these cells into desperately ill people and seeing improvements.

“We started to notice tremendous effects,” said Smikodub, speaking through a translator.

In a four-hour interview, he described the clinic’s work and the more than 1,000 patients he has treated for dozens of conditions. He spoke with evident passion, conveying the sense that he believes he is helping his patients.

But when the discussion turned to the science underlying his treatments, his answers were amalgams of well-established principles and theories that wildly contradict scientific work in the rest of the world.

Several American scientists, experts in muscular dystrophy and stem cells, reviewed EmCell’s claims for the Globe and said they found fundamental problems. Scientists said they would not consider implanting embryonic stem cells directly into a human because these cells are likely to develop into cancerous tumors. Diseases on EmCell’s list — diabetes, cancer, “aging” — have causes and symptoms so different that it seemed impossible that a single clinic or technique could address them all, they said. And in the case of muscular dystrophy, any therapy based on injected cells would need to ensure the cells actually migrated from the bloodstream and helped create healthy tissue where they were needed — posing a set of obstacles that have frustrated the field’s top scientists for more than a decade.

In his interview and in follow-up e-mails, Smikodub offered answers to these problems that did not convince the experts contacted by the Globe.

The cells used by the clinic are taken from the blood and other tissues of aborted fetuses between 2 and 8 weeks after conception, he said. Thus they are not, as the clinic claims, “embryonic stem cells,” which have only been found well before the end of the second week of development and before the embryo implants in the wall of the uterus and develops. Smikodub said he has not conducted any experiments that prove the cells can migrate from the blood, through the scars in a Duchenne patient’s muscles, and then transform themselves into living, functioning muscle.

To this and other questions, he said the proof was not in scientific studies, but in the patients who improve and return for more treatment. He said he has treated more than 1,000 patients, but provided about 3,000 treatments.

“We think that many of the things we are doing will be explained by science in the very near future,” said Smikodub. “My method of research is the clinical method, and it is impossible to explain many of these things.”

But other scientists had harsh words. They said EmCell is a poorly documented operation that appears to be capitalizing on the excitement surrounding stem cells at the expense of desperate families.

“This is entrepreneurship at its very worst,” said Dr. Jeffrey D. Rothstein, a professor of neurology and neuroscience at Johns Hopkins Medicine, and one of several scientists who reviewed EmCell’s claims for the Globe. “These are very expensive cure-alls.”

For the Rossettis and others, the improvements brought by EmCell’s treatments may not be illusory, but also may not be the long-term cures they most desperately want. Specialists said that the mere fact of believing in a treatment can have a powerful impact and lead patients to feel and even be better, at least for a while.

James says now that while he did feel a little better after the treatments, the long airplane ride was uncomfortable, and, if it were up to him, he wouldn’t go back for another session.

Furlong, of Parent Project Muscular Dystrophy, said she would discourage anyone from considering EmCell, but understands the emotions that would send a family there. She lost two sons to muscular dystrophy, one at age 17, one just 15.

“I would have sold my soul for five more minutes,” Furlong said.

Determination despite doubts

Twice a year, the Rossettis bring James to the Fegan building of Children’s Hospital Boston for an evaluation. These are dispiriting visits, no matter how much they steel themselves. They serve as reminders that there is little the doctors can do.

Even seemingly little things are jarring, like the way the doctors talk about Duchenne muscular dystrophy patients, collectively, as “the boys.” The boys sometimes stay the same between visits, but usually they get worse. The boys usually need a wheelchair by age 10 or 11. The boys eventually need a ventilator.

After a visit this month, Karen and Ray sat at a table in the hospital’s main lobby, across from a fountain filled with coins. James had taken a test that day that showed his breathing was no worse than before his two visits to EmCell, which was good news of a sort. But they had let themselves hope that he would show some improvement. He had not.

Sometimes, Karen said, she looks at other couples and thinks that she should have a life more like theirs. Yet, she said, she is also profoundly thankful to be blessed with such a strong marriage. And, she said, having a son with muscular dystrophy has changed her perspective in ways she treasures. Once she dreamed of “material things” — the colonial house in the suburbs, the perfectly manicured lawn.

“I have left that world,” Karen said.

Eight thousand dollars, which is what EmCell has asked for a third treatment for James, is a lot of money for this family. But in another sense, she said, it is nothing.

Karen and Ray were not happy to hear what the Globe uncovered about EmCell — that scientists say the clinic’s claims contradict what is known about stem-cell science, that the clinic has not shown its treatment can help, and that despite the hope, embryonic stem-cell treatments simply do not yet exist.

But Karen and Ray said they have not heard of any better alternatives. They will go for another treatment in November, during the children’s Thanksgiving break. To help save money, the family skipped their vacation this summer.

“I just don’t know how we could live with ourselves knowing that we had this opportunity to try something and we didn’t take it,” Ray said.

They know some people will not understand this decision, they said. When they had told their doctor earlier that day how much they were paying, he had shaken his head.

Hands on the table, Karen looked over her shoulder to make sure James, who was off with his brother Jonathan, was out of earshot.

At EmCell, Karen said, she met a quiet woman from Montenegro who watched her brother die of muscular dystrophy at age 16, only a year older than James. Now the woman’s son has the disease.

Even through tears and the veil of broken English, Karen said, she and this woman shared a moment of sudden mutual understanding that made the world seem smaller and maybe a little less lonely. Three of “the boys,” traveling the same rutted path. Two families, hoping for a way out.

Ray leaned a little closer to Karen as she spoke; strollers and wheelchairs slid across the hospital lobby.

“We’re going to keep looking,” Ray said.


Note on the sources: This article was reported through more than two months of interviews with the Rossetti family this summer, after the family had visited the EmCell clinic twice, plus a reporter’s visit in August to Kiev and e-mail and telephone interviews with scientists and other EmCell patients. The description of the family’s early experience with James and muscular dystrophy is based on interviews with Karen and Ray Rossetti. The description of the family’s trip to Kiev, the clinic, and the treatment they received is based on the recollections of the Rossettis as well as the Globe’s reporting in Kiev.