Jan. 05--A 6-year-old Crystal Lake girl who spent months waiting for a life-saving bone marrow transplant from a donor of similar multiracial heritage has been accepted into a groundbreaking clinical trial at the National Heart, Lung and Blood Institute in Maryland, where doctors are optimistic about her survival.
Sophia Trujillo, who was featured in September in a Tribune story about the shortage of minority and multiracial donors, has still not found a perfect donor match -- despite hundreds of people stepping forward to be tested. Instead, doctors conducting the trial hope a procedure that creates a match by combining her mother's stem cells with donor cells will cure her aplastic anemia, said Dr. Rick Childs, clinical director for the National Heart, Lung and Blood Institute.
Michelle Trujillo, Sophia's mother, had her stem cells removed last week. In mid-January, Sophia will begin chemotherapy to prepare her body for the transplant 10 days later, Childs said.
"This protocol is really reserved for the patients that have the worst prognosis," said Childs, who has been conducting the trial since 2009. "We're trying to cure her with an experimental transplant that is tailored for patients like her."
Since the trial began, 25 patients have been treated, and 23 have survived-- results that have far exceeded the 70 percent survival rate doctors hypothesized when the research began. Childs and his colleagues expect to publish their findings in a medical journal in three to five months, Childs said.
Sophia, a ballet and You Tube-loving first-grader, was diagnosed with the rare disorder that impairs her immunity in July 2014. When doctors said Sophia would need a bone marrow transplant to save her life, Michelle Trujillo began coordinating donor drives across the country. She put out passionate pleas on social media for mixed-race donors to be tested.
The Trujillos' predicament highlights a nationwide paradox that has troubled medical experts and families awaiting transplants for years: Despite growing diversity in the United States, there are not enough minority and multiracial donors registered and available for patients in need.
Sophia is half Filipino, as well as Irish, Spanish and Italian.
Marrow and cord blood contain certain genetic markers that are inherited, and combinations of those markers are more common in some racial groups than others. So, while not a guarantee, a donation from someone with similar racial heritage presents the best possible chance for transplant success, doctors have said.
Childs said the clinical trial was conceived as doctors grappled with the complexity of trying to find bone marrow matches for the ever-changing population.
"We need more donors that have mixed racial backgrounds," he said. "But the diversity of tissue antigens in those populations is huge. Even if the (registry) were to grow, if you were double it, you're not going to make much impact."
The advantage of using the clinical trial procedure, known as an Allogenic Stem Cell Transplant -- a combination of umbilical cord blood and half-matched related stem cells -- is that if one type of cells is rejected by a patient's body, a completely different stem cell source may be able to step in. The recovery time from this type of transplant also is shorter, Childs said.
To be accepted into the trial, patients are usually referred by their doctors and must meet certain medical criteria. The cost of the medical procedure and related medications -- estimated to be $500,000 -- is covered by the National Institutes of Health, which operates the National Heart, Lung and Blood Institute, Childs said.
Childs said most of the patients he has treated are of mixed-race heritage. Survivors have returned to normal blood counts and immune systems. One went back to high school, another began nursing school and others are also enjoying normal lives, he said.
Michelle Trujillo, who took a leave of absence from her job as an account manager for Eaglewood Resort and Spa in Itasca to bring Sophia to Maryland for six months while undergoing the trial, said at first she was terrified to see her daughter go through what seemed like a last-ditch effort to save her life.
But despite a few setbacks in recent months, she said her daughter remains "strong and sassy" -- and Trujillo feels encouraged to be around other parents dealing with the same harrowing situation.
"As a mom, I'm hopeful," Trujillo said. "Looking back at everything, there's no place I'd rather be."
vortiz@tribpub.com
