Of course, some discoveries that begin with great promise end with a whimper. Others change lives for the better almost overnight. Here are five cases in which everyday people faced such killers as leukemia and liver failure and did the seemingly impossible: Using the most advanced medical breakthroughs, they survived.
TORI CAMERON, 2
New skin brought her a vital second chance
Moments after giving birth, Lorraine Cameron knew something had gone terribly wrong. Her newborn, later named Tori, was covered from head to toe with blisters and angry raw spots. "I started crying as soon as I saw her," recalls Cameron, 38, a mental health counselor.
As doctors quickly realized, Tori had been born with a rare, often disfiguring and sometimes deadly congenital skin disease called epidermolysis bullosa. Afflicting roughly 100,000 Americans, EB is caused by abnormalities in proteins that help hold the skin together. Tori had a serious form, so that even the gentlest touch could bring on blisters, which quickly turned to excruciating open wounds. Her condition was so severe that the next day she was rushed from Boca Raton Community Hospital to Jackson Children's Hospital, part of the University of Miami School of Medicine and a research center for treating EB. "It's a vicious disorder," says Dr. Lawrence Schachner, 56, who, with Dr. William Eaglstein, 61, and Dr. Anna Falabella, 36, handled Tori's case. "It's potentially fatal, especially in the first year of life, primarily because it opens up the skin to infections."
With 80 percent of her tiny body suffering the equivalent of second-degree burns, Tori was at alarmingly high risk. "For several weeks, we thought she might die at any minute," says her father, Randy, 40, a screening contractor. In fact, at first he and his wife thought a quick end might be a blessing compared to 10 or 20 years spent in agony. "I did not want her to live," Lorraine admits, adding, with a measure of guilt, "but how can you wish for your baby to die?"
Fortunately, it never came to that. Now approaching her 3rd birthday, Tori is running and roughhousing with her 7-year-old sister Taylor, the only obvious evidence of her illness a few scattered blotches. She owes her survival to devoted parents, a feisty spirit and Apligraf, a revolutionary bioengineered skin derived from a seemingly unlikely source: the discarded foreskins of newly circumcised infants.
"The foreskin is thrown away, but it's still very good tissue," says Darcy Friedman, a tissue engineering specialist for Novartis, the firm that markets Apligraf. She explains that cells are harvested from the foreskin to grow patches, 3 in. in diameter, which are laid over the patient's raw spots. Each patch is bandaged and in a few days the patch seamlessly integrates with the patient's skin. "Basically you're putting on an open wound fresh, viable cells," Friedman says. Performed on an outpatient basis, Apligraf grafts are relatively painless and inexpensive compared to traditional skin grafts, which involve cutting patches of skin from a healthy part of the body, then applying them to the injured area, a procedure that usually requires a hospital stay. Tori was the first infant and first EB patient to receive Apligraf, which had previously been used for minor leg ulcers, spider bites and burns. Dramatically improved, she now raises fewer than 10 blisters a day—not that it slows her down. "She comes to you to pop it, and she's back to play," says Randy. "She's a tough little pup."
Not surprisingly, Tori's illness has been rough on her parents. Nine months after the Camerons wed in August 1993, Lorraine gave birth to Taylor. Three miscarriages in three years were then followed by a difficult pregnancy with Tori. "It wasn't like Taylor," says Lorraine. "She was kicking and hurting me. I thought, 'I wonder if something's wrong with her?" ' Just hours after Tori's birth, Randy had a friend scour the Internet to learn more about her disorder. Lorraine, too, took a crash course on EB, though at first she was too distraught. "I was out to lunch the first week or two," she says. "I would just bawl and be useless. I finally got to the point where I said, 'I've got to click in, for Tori's sake.' "
Tori was 11 days old when she underwent her first Apligraf graft, performed on a buttock, leg, knee, foot and elbow. For two months the Camerons took her to Miami for weekly treatments. Then, at home, they spent hours draining her blisters with sterilized needles and dressing and redressing her wounds. The stress was horrendous. "I told Randy the divorce rate after losing a child or having a severe disability problem is through the roof," says Lorraine. "We had a big blowup and I said, 'We need to keep watch on this." '
Dr. Schachner, who has since treated 30 other patients with Apligraf, says that aside from occasional blisters on her palms and feet, like those commonly found in older EB patients, Tori should enjoy a bright outlook. "I think she has a fine prognosis for good growth and development, a good life span," he predicts.
Grateful for the science that brought health and hope to their daughter, the Camerons have focused on helping other families cope with EB. Now a board member of the Dystrophic Epidermolysis Bullosa Research Association, Lorraine has set up a nationwide program through which parents can find specialists as well as seek emotional support from other EB families. "It's the sort of thing we didn't have when Tori was born," says Randy. "We had to feel our way through it."
MOLLY KOCH, 23
Bionic liver buys precious time
Caught up in school, work and a busy social life, 18-year-old high school senior Molly Koch barely missed a beat when she came down with a bad case of the flu after Christmas five years ago. Instead, she popped Tylenol and other over-the-counter remedies, without paying much attention to the recommended dosage. "I didn't have time to be sick," she says.
But within days Koch grew increasingly weak and confused. When she began to vomit uncontrollably, her mother, Mary, 52, a flight attendant, rushed her to the emergency room at Desert Samaritan Medical Center near their home in Mesa, Ariz. There, tests showed that Molly had inadvertently overdosed on the pain reliever acetaminophen and was now facing the life-threatening result: inflammation of the liver. If the liver loses so much as 85 percent of its function, her parents were told, death is a virtual certainty. Molly had lost 95 percent.
Within hours she slipped into a coma and was finally helicoptered to L.A.'s Cedars-Sinai Medical Center in hopes of having a liver transplant. When they learned that no organs were available, "I was in a place for people who have run out of time," says Mary's ex, David Koch, 52, a Tempe, Ariz., custodial worker who flew with his daughter to L.A. "Molly was free-falling."
Then came a crucial lifeline: an experimental machine known as a bio-artificial liver, which had been devised over 20 painstaking years of research by Dr. Achilles Demetriou, 55, chairman of Cedars-Sinai's Department of Surgery and director of its Liver Support Unit. "Patients like Molly die very quickly unless you intervene," he says.
Far more sophisticated than artificial kidney or heart machines, the dishwasher-sized BAL mimics some of the liver's myriad tasks, including metabolizing carbohydrates and detoxifying the blood. After first being withdrawn through a catheter inserted into the thigh, a patient's blood is circulated through the machine, where it is separated into blood cells and plasma. Next, the plasma is run through a charcoal filtration system and finally through a cartridge containing billions of liver cells called hepatocytes, culled from live pigs. The precise process is not fully understood, but the plasma "gets replenished," says Demetriou. "The hepatocytes both detoxify and provide substances the patient's liver is unable to produce."
On Jan. 8 aides wheeled the BAL to Molly's bedside and processed her blood for two six-hour sessions. The machine kept her alive until that night, when a suitable donor liver finally arrived at the hospital. But Molly's ordeal was not yet over. The 12-hour operation proved unsuccessful. "At least a half dozen times I thought she was certain to die," says David. But two days later a donated liver from a 6-year-old who had died in an accident was flown in from Dallas. This time the transplant worked.
Nine days later Molly opened her eyes. "The first thing I remember is my dad walking into my room wearing a black-and-red Pendleton shirt," she says. Thankfully, doctors' fears that Molly would be brain-damaged proved unfounded. Still, it took three months before she was able to walk and speak normally. "My whole body felt different," she says. "I lost 30 lbs. and had scars and stretch marks from my weight fluctuations." Equally profound were the psychological repercussions. "Before, I thought of myself as invincible," she says. "Now, dying seems more real."
At Cedars alone, 29 of 32 patients treated for acute liver failure have survived because of the BAL, and next month Demetriou plans to release further results of encouraging clinical trials. For the parents of Molly Koch, of course, the BAL is already an unqualified success. On July 14 Mary watched proudly as Molly, healthy again, walked down the aisle of St. Timothy's Church on her father's arm to wed her fiancé, Keith Ormrod, 28. "We never thought we would see her go to her senior prom, graduate or marry," she says. "Today, everything is a beautiful milestone."
VINCENT MONTES, 29
Saved by an intestine transplant
As a horse-barn manager at the famed Santa Anita racetrack, not far from his home in La Puente, Calif., Montes knew all about playing the odds. At 21, he was struck with a mysterious digestive disorder that caused his intestines to shut down and become gangrenous. Eventually doctors removed all but 1 ft. of the diseased organ and inserted a permanent IV for nourishment. In 1999, partly as a result of infections caused by the IV, he suffered a stroke. From then on, says his brother Edgar, 31, a law school graduate, "he didn't spend more than 10 days out of the hospital." As a last resort, Vinnie was accepted two years ago by the University of Pittsburgh's Thomas E. Starzl Transplantation Institute for a recently perfected procedure—an intestine transplant. Though his own doctors gave him just a 5 percent chance of survival, the Center's Dr. Kareem Abu-Elmagd, 49, one of the world's leading experts on the procedure, was undeterred. "Send Vinnie," he said, "and we'll figure it out."
To date, fewer than 300 patients in the U.S. have undergone such surgery, which is fraught with even more rejection-related complications than other organ transplants. "The intestines are loaded with immune-system cells meant to fight off invaders," says Abu-Elmagd. "When they're transplanted, those same cells work against the recipient." In 1995 Abu-Elmagd, who helped develop the powerful antirejection drug daclizumab, had another brainstorm: He recalled that radiation had once been used to short-circuit the rejection response in a different transplant and thought it could work here. On May 7, 2000, in a 15-hour operation, Montes became the first person ever to receive an irradiated donor intestine. Though still not fully recovered, Montes is now able to eat and digest solid food, and he hopes to return to work by year's end. "Dr. Kareem told me I wouldn't die, and I believed him," says Vinnie. "Now I have a second chance at life."
KATHY HAMMONS, 42
Stem cells conquer lupus
She was working at her summer job in a restaurant when the college sophomore noticed that her hands had suddenly swollen up. Hammons was alarmed enough to rush to the nearby emergency room at the University of Michigan hospital in Ann Arbor. Even so, she was ill prepared for the diagnosis: lupus. The chronic inflammatory autoimmune disease, which affects 1.4 million people in the U.S., mostly women, causes the body to attack its own healthy tissue and organs. In the most severe cases, the notoriously unpredictable disease can be fatal. "A medical student told me I could expect to live 10 years," she says. "That's a long time, but not when you're 19."
Despite the grim prognosis, Hammons's disease was kept mostly at bay for nearly a decade with anti-inflammatory drugs, and her most debilitating symptom was a lack of energy. So she happily got on with her life, marrying Breen Hammons, now 63, an auto-assembly-plant inspector, in 1980 and taking a job as a court reporter after finishing community college. In 1990, however, the lupus struck with a vengeance. She was forced to quit her job, and within a few years the disease had weakened her pancreas, lungs, the blood vessels in her brain and the sac surrounding her heart. Doctors tried conventional chemotherapy and high-dose steroids to control the lupus, vet the situation grew worse. "At the 17th month of my chemotherapy, the doctors said the treatment wasn't working," she recalls. "They sent me home while they tried to figure out what else they could do."
Near death, Kathy learned via the Internet that Chicago's Northwestern Memorial Hospital had begun treating lupus patients with an experimental stem cell transplant. In the procedure, a patient's own stem cells—vital cell precursors that develop into organs and tissues—are first removed from the blood, after which the patient's immune system is deliberately destroyed with chemotherapy. The stem cells are then returned to the patient in the hope that they will multiply and rebuild a healthy immune system. The hypothesis, says Dr. Ann Traynor, codirector of the stem cell program with Dr. Richard Burt, "is that if you turn back the clock and let the immune system heal itself, then the patient should have a chance of ending up without the disease."
For Hammons, who began treatment in January 1999, there were early complications. Normally, in a process called apheresis, stem cells are collected by a machine that separates them from a patient's blood. That failed, and her cells instead had to be harvested from bone marrow in her hips. In April her immune system was bombarded with the chemotherapy drug Cytoxan. For 11 days she remained in isolation, eating boiled food and allowed contact only with individual visitors swathed in sterile gowns and masks. The strategy began to work, but there was no sudden miracle cure. "As sick as I was before my transplant, after it I felt worse," she says. "The lupus was gradually going away, but the recuperation is horrible."
Still, of the 11 gravely ill lupus patients treated with the stem cell procedure at Northwestern, only two have had recurrences, and doctors believe that future trials will prove even more promising. Hammons, who now has the energy to ferry her 11-year-old son Nelson to his five-times-a-week skating lessons and recently completed a 7-mile bike ride to raise money for other lupus patients, already has all the proof she needs. "In 1999, 5,000 people died of lupus," she says, "and I was not one of them."
SUZAN MCNAMARA, 34
A cancer wonder drug
Two years ago, McNamara was too weak to climb stairs. She was rapidly losing her battle with chronic myelogenous leukemia, a rare and deadly blood cancer. Today, when she drives home to her Montreal apartment from Concordia College, where she studies molecular biology, she routinely stops at the gym to pump iron and jog on a treadmill. "I feel the best I've felt in my whole life," says McNamara.
She owes her revival to Gleevec, a new drug that has shown impressive remission rates in CML patients. Unlike traditional chemotherapy, it specifically targets cancer cells, leaving healthy ones alone. "It's the only drug in oncology that has fulfilled its promise," says her doctor Jaroslav Prchal. In early 1999 McNamara had read about Gleevec, but the drug was years from approval. So the shy Suzan turned activist, gathering 4,000 signatures on a petition asking Novartis, the manufacturer, to speed up the process. It worked. By January 2000 she was in a clinical trial, with immediate results. Gleevec is now being used by some 10,000 patients in 30 countries worldwide. Its long-term effectiveness is yet to be seen, but McNamara is jubilantly optimistic. "One minute I was looking at death," she says. "The next, I was looking at my whole life in front of me."