This story, written by Sharon Tregaskis, originally appeared in the Summer 2019 edition of Pitt Med Magazine. Illustrations by Michael Hirshon.
Among the mementos in the Rangos Research Center office of pediatrician Paul Szabolcs hangs a front-page news story published in 2010. In the accompanying photo, confetti showers down on a slight 16-year-old as health care providers and fellow patients celebrate her release from the local bone marrow transplantation unit.
When they met in 2009, Szabolcs recalls, the flaxen-haired youngster was in a precipitous decline. At just 4'5" and 48 pounds, Daphne (we’ve changed patient names in this story) required intravenous nutrition and high-flow oxygen supplementation; her muscles were so depleted she could no longer walk independently. Diagnosed as an infant with the same hereditary immune deficiency that had killed her older brother before his fourth birthday, she had endured recurrent respiratory infections for six years. Still, she acted in local theatre productions, excelled in her Advanced Placement courses, earned her driver’s permit. When she couldn’t attend school in person, she participated by Skype.
A transplant of stem cell–rich cord blood, Szabolcs’s specialty, could replace Daphne’s delicate immune system with one vigorous enough to protect her lungs. But she was too weak to endure the radiation and chemotherapy that precedes such transplants. And those persistent respiratory infections had inflicted such extensive damage, a new set of lungs was equally imperative—and risky. The drugs used to prevent organ rejection would only accelerate her immune decline. “It would have been futile and irresponsible to offer any kind of [conventional] transplant,” says Szabolcs. “We would have killed her.”
Together with her pulmonologist, Szabolcs—now chief of the Division of Blood and Marrow Transplantation and Cellular Therapies at UPMC Children’s Hospital of Pittsburgh—proposed a novel solution, then garnered the myriad institutional and federal approvals required to proceed. Her doctors would seek a single deceased donor to furnish both bone marrow and lungs. If their scheme worked, Daphne would be cured of her hereditary immune dysfunction and spared the side effects caused by lifelong use of the medications necessary to prevent rejection.
The procedure they envisioned would take months. If a size- and tissue-matched donor could be identified in time, the marrow would be harvested and processed to deplete the most immunologically aggressive cells, then frozen. The lungs would be transplanted immediately. If Daphne survived that surgery, she would spend a few months on immunosuppressants while regaining her strength, then proceed with chemotherapy, radiation, and finally transplantation of the cryopreserved bone marrow.
“Quitting was not her nature,” says Szabolcs. “So I felt that it was my obligation to come up with a plan that, while without precedent, still carried hope.”
Read the rest of the story at Pitt Med Magazine.