Rachel Phillips has a history of defying long odds. The Florida-born ballerina beat out 14,000 competitors to win a coveted spot in London’s prestigious Royal Ballet. As a professional dancer, she traveled all over the world, and once shared a stage with Rudolf Nureyev.
More recently, Phillips pulled off her most spectacular feat yet: The Burlington resident found the only doctor in the world capable of saving her life. By coincidence, Paolo Macchiarini was in Burlington last week to attend an international medical conference. The Italian surgeon agreed to perform a highly experimental surgery on Phillips. She’ll be the 12th patient in the world to undergo the cutting-edge procedure.
Macchiarini is a professor of regenerative surgery at the Karolinska Institute in Stockholm. Working with an international team of doctors and researchers in Sweden, Spain and Italy, he has developed a method of growing a replacement trachea, or windpipe, in a laboratory using stem cells extracted from the patient’s own body.
The procedure is so new and innovative — the first one made international news when it was performed three years ago in Barcelona — that the U.S. Food and Drug Administration has yet to approve it. Unless the FDA OKs it under a “compassionate use” exemption, Macchiarini won’t be able to perform the operation in this country, nor can the Phillipses expect Medicaid to pay for it.
Rachel, 34, and her husband, Steven, moved to Burlington four and a half years ago to open a performing arts school. But their plans were derailed when Rachel was diagnosed with a life-threatening condition known as Ehlers-Danlos Syndrome, a genetic disorder that afflicts her body’s connective tissues.
Since childhood, Phillips has suffered from shortness of breath. For years, family, friends and even doctors chalked it up to the physical demands of professional dancing. However, when Phillips turned 30, “Stuff just started falling apart on me left and right,” she recalls. She developed an excruciating headache that has persisted for years. She tore ligaments in her shoulder, developed hip problems and frequently dislocates other joints.
Those ailments are all linked to a hallmark symptom of EDS: extreme hypermobility, or the tendency of limbs and joints to flex beyond their normal range of motion. Ironically, the very physical trait that may have enabled Phillips to become a successful dancer now threatens her life.
That’s because Phillips’ EDS also causes a condition known as tracheobronchomalacia, which makes her trachea and bronchial airways collapse each time she exhales. As a result, she needs to be on supplemental oxygen at all times. Her service dog, Sienna, is trained to alert Phillips whenever her blood-oxygen levels fall below an acceptable limit.
Phillips, whose dark-brown eyes make her resemble a young Ally Sheedy, doesn’t look like a lean and fit ballerina anymore. She wears her once-long black hair much shorter and dyed with a funky blend of purple highlights. On the day we met, she had a brace on one wrist, the result of a recent injury.
Phillips has undergone nine unsuccessful surgeries to try to open her airway. In the last year alone, she’s had 31 bronchoscopies and spent a total of 78 days in the hospital.
During one such stay in 2010, Phillips met Daniel Weiss, a pulmonary specialist at Fletcher Allen Health Care. An associate professor in UVM’s College of Medicine, Weiss also runs a research lab that received a $4.3 million federal stimulus grant to figure out how to bioengineer lungs using a patient’s own stem cells.
Weiss, who organized last week’s biennial conference on regenerative medicine, calls organ and tissue regeneration “like science fiction coming to life.” Though it’s still in its infancy, the field holds enormous promise for patients like Phillips whose organs and tissues have been damaged by age, injury, disease or congenital defects.
It was through Weiss that Phillips first learned of Macchiarini’s work. She says it sounded highly theoretical and futuristic — something that might be possible 10 to 15 years down the road. She never imagined she would become a candidate for such a procedure.
Earlier this year, though, Phillips’ condition worsened. After she underwent yet another bronchoscopy at a hospital in Boston, Steven says the doctor came out “white as a sheet” and informed them that Rachel’s airway, which had been collapsing 50 percent on normal exhalation, was now closing 90 percent on each breath. The membranes in her airway could close entirely and get stuck that way. Since then, it’s happened several times.
On June 14, the couple was in Weiss’ office when the Vermont doctor had an “aha” moment: One of Macchiarini’s colleagues from Stockholm was in town to review Weiss’ research.
Macchiarini’s colleague consulted with Phillips, reviewed her scans, then sent them to Stockholm. “Dr. Macchiarini saw the bronch,” Phillips says; “he saw the collapse and basically said to me, ‘I will take your case.’”
While in Burlington last week, Macchiarini, 53, explained why he agreed to treat Phillips — free of charge. “She’s a young and beautiful girl who had a beautiful past,” he explains, in a thick Italian accent. “She deserves to live.”
Macchiarini detailed how the procedure works: Essentially, doctors create a matrix or “scaffold” of Phillips’ windpipe, using either a plastic polymer modeled after her own trachea, or one taken from a cadaver stripped of all its organic cells. That scaffold is then placed in a liquid medium and seeded with cells extracted from Phillips’ bone marrow. Within 48 hours, Phillips’ stem cells grow a new windpipe over the scaffold. Unlike conventionally transplanted organs, Macchiarini explains, this one won’t be rejected by her body or require lifelong immunosuppressant drugs.
What are the odds of success? Of the 11 trachea transplants he’s done so far — 10 involving donated tracheas and one using a synthetic one — Macchiarini said only one patient has died, and that was due to complications unrelated to the surgery. Most patients woke up after the 14- to 19-hour surgery and began breathing normally.
Macchiarini isn’t just working on tracheas, either. As a thoracic surgeon, he’s also developing regenerative therapies involving the lungs, heart and esophagus. He hopes to use the patient’s body as a “bioreactor” to regenerate damaged organs and tissues in place — without surgery. The stem cells used in these procedures are not the embryonic kind that have aroused opposition from antiabortion activists in the United States and elsewhere.
“We have had, so far, excellent results, especially in patients that have attempted suicide through the ingestion of caustic liquids,” he added. “It’s not a goal. It’s a dream... But I don’t think we’re that far away from that dream.” He envisions the procedure will one day be done “in every corner of the world.”
By then, maybe sci-fi surgery won’t be prohibitively expensive. As if their medical problems weren’t enough, the Phillipses also face dire economic challenges. Over the last four years, neither has been able to work. Steven, a minister by training, puts it this way: “Right now, my mission is Rachel.” Consequently, the couple is tens of thousands of dollars in debt.
Despite the surgeon’s generosity, the experimental procedure to save Phillips’ life will still cost them about $300,000. Even if it can be done in the United States — Macchiarini is exploring the possibility of performing the historic procedure at Fletcher Allen — Medicaid is unlikely to cover it. Steven says local doctors have already had to fight “tooth and nail” to get many of Rachel’s routine medical expenses paid for.
“We feel like we’re in that Michael Moore movie,” Steven says, referring to the 2007 documentary Sicko. “We can save the four fingers that were cut off, but we can’t pay for all four of them, so you have to choose which ones you want to lose. We face that literally every two weeks.”
Meanwhile, doctors plan to extract cells from Phillips’ bone marrow some time this week in anticipation of a surgery before October. Weiss says that Macchiarini may even try an initial procedure to fix Phillips’ airway before opting for a full tracheal transplant. That way, he says, “She now has two potential options, whereas before, she was really looking at a slow, painful death in the not-too-distant future.”
“The last three years have just been total hell,” adds Phillips, without a trace of self-pity. “Yeah, it’s scary to be one of the first people to have this surgery ... But if it works for me, it’s going to open the door for so many other people.”
Yet another miracle may be in the works: According to Dr. Weiss, a regenerative medicine specialist who attended last week’s conference asked for a sample of Phillips’ bone marrow. His idea: to identify the underlying causes of Phillips’ EDS, and then use genetic engineering to correct those cells before they’re implanted. If that works, it could cure Phillips’ underlying disease, though Weiss cautions that that road could be an even longer one for her.
This former ballerina has pulled off plenty of breathtaking moves in the past. For now she remains, quite literally, a woman waiting to exhale.