A Child's Life Is Threatened by a Genetic Accident That Happened 350 Years Ago
A radiant little girl, active as any other kid in her kindergarten class, Renee gives no outward sign of her serious illness. Yet the disease—called hereditary tyrosinemia—has destroyed her liver's ability to break down the amino acid tyrosine in protein, which in turn causes a lethal buildup of toxicity. There is no known cure for the disorder, and only a liver transplant within the next few weeks can save Renee's life. The search for a child donor has assumed a dual urgency for transplant surgeons at Children's Hospital of Pittsburgh, where the operation is to be performed, because Renee has also contracted liver cancer, a common complication of tyrosinemia. "This little girl is living under the burden of two fatal diseases," warns Dr. Margaret Hostetter, until recently a Harvard Medical School instructor in pediatrics, who has treated Renee almost all her life.
Specialists have ruled out chemotherapy, so there is constant danger that the cancer may spread from the liver to other parts of Renee's body. While a low-protein vegetarian diet has temporarily stabilized her condition, Renee's parents carry a beeper whenever they leave home to alert them in case Pittsburgh finds a donor. The narrow criteria make the search difficult: The organ must come from a child 1 to 3 years of age, weighing 20 to 40 pounds, with O-positive blood, who is clinically dead but whose heart and lungs are still operating with artificial support. The moment a suitable donor is located, world-famed organ transplant surgeon Dr. Thomas Starzl will fly out from Pittsburgh in a specially equipped plane "to harvest the liver," says Hostetter. If a healthy, compatible organ can be implanted in Renee, doctors believe she has an 80 to 90 percent chance of leading a normal life.
It was Dr. Hostetter who diagnosed Renee's disease in 1976, when she was only 3 months old. Other physicians had failed to identify the baby's illness, but Hostetter was alerted by a peculiar odor, "like old carrots in a musty bin." Suspecting hereditary tyrosinemia, she ordered blood tests on Roland and Susan Cote, which confirmed the diagnosis. Tracing their family trees, the pediatrician discovered that both parents were descendants of a married French couple, Louis Gagne and Marie Michel, who brought the recessive genes of tyrosinemia to Quebec City prior to 1644, thereby unleashing the deadly genetic chain reaction on this continent. Like the Cotes, Gagne and his wife were unknowing carriers of the disease, which has also struck in Europe and Japan. Undocumented until 1964, the disease can occur only in the children of two carriers, and even then there is a 75 percent chance that the offspring will be normal. Given those statistics, the Cotes have been extremely unfortunate. Renee's younger sister Nicole was stricken with an even more virulent form of the disease and died in 1980. A third sister, Danielle, almost 2, has escaped the family's genetic blight, but the couple have decided the risks are too great for them to have more children.
The Cote family has learned to deal with Renee's problem by talking about it forthrightly. "Renee understands why Nicole died," says Hostetter, "and she also understands she has the same illness." But the normally garrulous youngster steers away from the subject, saying, "I don't like to talk about it." Susan and Roland are emerging with a stronger marriage from a period of recriminations over their flawed heredity. "Susan blamed me and I blamed her," admits Roland.
Now the Cotes share their lives freely with the thousands of friends, neighbors and total strangers who have joined in an outpouring of emotional and financial support. The phone and doorbell ring constantly with offers of aid. A fund heavily supported by Roland's co-workers at a manhole-manufacturing factory in Hudson, N.H. and Susan's at a Lowell magazine distributorship has raised close to $14,000. The U.S. Navy, several corporations and trial lawyer F. Lee Bailey have offered to fly the family to Pittsburgh for the transplant surgery. "It's a great feeling," says Susan, "especially when the love and support come from people we don't even know."
The Cotes pray a donor will be found, aware that their only hope is another's sorrow. "It's a hard thing to ask people for, especially when they're suffering a tragedy of their own," says Roland. "We're waiting," adds Susan. "What else can we do?"