Laboratory Test Identifies Rare Disease and Saves Lives of Mother and Unborn Baby
July 26, 2020 – A young woman in the final trimester of her pregnancy was recently treated at Rambam Health Care Campus for a rare illness that threatened her own life, as well as that of her unborn child. Both lives were saved over the course of just a few hours after a laboratory test identified the young woman's disease; surgery was rapidly performed to deliver the baby, who was in severe distress, and the mother was then successfully treated for her illness with an innovative, life-saving therapy. Laboratory technicians at Rambam Health Care Campus have become heroes over the last several months, as they work around the clock to check COVID-19 test samples. However, their work extends far beyond coronavirus testing and is significantly more complex. Recently, a diagnostic test performed at Rambam's Clinical Hematology Laboratory determined that a young woman in the final stages of her pregnancy was suffering from a rare and deadly disease. The discovery saved not only her life, but that of her unborn child. "We are talking about a 24-year-old woman in the 30th week of her first pregnancy. She was hospitalized with a diagnosis of preeclampsia, or pregnancy toxemia, in a hospital in the north," said Dr. Ido Solt, Director of the Mrs. Edith and Professor Dov Katz Maternal and Fetal Medicine Unit of the Department of Obstetrics and Gynecology at Rambam. "Because of the complexity of her condition, the medical staff there decided to transfer the young woman to Rambam for continued treatment," he explained. The young woman arrived at Rambam in the early evening hours, but despite the urgent care, her condition continued to deteriorate and the fetus was beginning to show signs of distress. Her physicians began to suspect that they were not dealing with pregnancy toxemia, but with a very rare disease requiring an entirely different treatment regimen than the one the young woman had been receiving. This raised great concern among the medical team. As Dr. Solt explained, "If the young woman was receiving the wrong treatment, it could very well have killed her." Rambam's Hematology lab performed a critical test that night —a test to determine the existence of an enzyme known as Adams 13, which is tied to an extremely rare disease known as thrombotic thrombocytopenic purpura (TTP). TTP is a blood disorder in which blood clots form in small blood vessels throughout the body. These clots can block the flow of oxygen-rich blood to major organs such as the brain, kidneys, and heart. In addition, people with TTP may have serious bleeding issues and may bleed internally as well as from cuts to the skin. The disease, which has been documented in only two cases of pregnant women in Israel, requires specific and rapid treatment. Otherwise, both the pregnant mother and the fetus could both die. The lab test results arrived six hours later—the pregnant young woman was indeed afflicted with the rare illness. Now the medical team was faced with a medical dilemma. TTP is often characterized by blood clotting problems that can lead to excessive bleeding. The young woman in their care was in serious condition and needed urgent treatment for her disease. But the child in her womb was in distress and would have to be surgically delivered soon if it was to survive. The surgical procedure would place the young woman at extreme risk of death. "We had to choose between the lesser of two evils," explains Dr. Solt. "Every decision was fraught with enormous danger and time was rapidly slipping away. As the window of opportunity to act was rapidly closing, the team was forced to make a decision at the doors of the delivery room. To our great joy, despite the challenges, the surgery to deliver the baby was performed successfully.” At the conclusion of the dramatic surgery, the newborn was transferred to the Department of Neonatology and Neonatal Intensive Care Unit of Rambam's Ruth Rappaport Children's Hospital, where he is still hospitalized and receiving excellent care, and his condition has greatly improved. The mother was transferred to one of Rambam's internal medicine departments, where she became only the third patient in the country to receive a state-of-the-art enzyme treatment for her condition. After a week-and-a-half of hospitalization, she was released from the hospital in good condition, and allowed to return home. "We have a dramatic set of circumstances that came together and required our medical team to confront a virtually impossible clinical situation," notes Dr. Solt. "Without their deep clinical experience and without their professional skepticism that led to a rapid understanding that we were dealing with an extremely rare disease requiring an entirely different treatment from what had been administered, and without the outstanding care provided by the Neonatal Intensive Care Unit and the Department of Internal Medicine in which the mother was treated, the outcome could have been far different for both mother and child. Rambam's outstanding medical teams came together to do what we do best—to care for the sick and save lives." Photo: In the operating room at Rambam Photo courtesy of Rambam Health Care Campus
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