When Midtown resident Sofia Irlando was diagnosed with acute myeloid leukemia, a blood and bone marrow cancer, Aug. 26, 2019, it was quite a surprise since there was no cancer history in her family.
“It was scary and shocking,” said Sofia, who was a 15-year-old freshman at the Paideia School in DeKalb County at the time. “It kind of felt like it came out of the blue, but I knew that I had doctors who were fighting for me and wanted the best for me and I trusted what they were doing. I just tried to keep a positive attitude and do what I had to do.”
Doctors at Children’s Healthcare of Atlanta’s Aflac Cancer and Blood Disorders Center on its Egleston campus in DeKalb started treating Sofia right away and knew she would eventually need a blood and bone marrow transplant.
Because that type of leukemia has a high risk of relapse and chemotherapy alone would not keep it from coming back, a transplant was necessary, said Dr. Benjamin K. Watkins, a pediatric hematologist and oncologist at the center.
Sofia’s sister Bella, an 18-year-old Paideia senior at the time, was tested to see if she was a match, and she was found to be only a half-match (siblings have about a 25% chance of being matched), and doctors preferred she receive a donation from a full-match. So they consulted an international database of potential donors and contacted one that was a full-match.
Once the donor was tested to ensure he or she was healthy enough to donate, the transplant was scheduled for Jan. 8, 2020. But the day before the procedure, the donor was unable to give blood and bone marrow because of problems with anesthesia, a rarity.
Because Sofia had been subjected to the highest level of chemotherapy possible to kill the cancer, doctors couldn’t wait for another full-match to be available to harvest blood and bone marrow from, a process that could take up to two months.
“At that point, if we didn’t move quickly to find another donor, there was a high likelihood Sofia would not survive,” Watkins said. “The chemotherapy she had undergone is the most intense chemotherapy someone can receive.
“It’s intense enough that without being rescued with stem cells, she would not be able make white blood cells, red blood cells or platelets, the cells that come out of the bone marrow. Without white blood cells, a life-threatening infection is inevitable.”
In stepped Bella, who doctors had confidence in as a donor despite being a half-match. After she was tested to determine she was healthy enough to donate, the procedure was scheduled for two days later. Watkins said the center conducts about 90 blood and bone marrow transplants each year, and only “a handful” involve half-matches, also called haploidentical matches. “Thank goodness we had Bella,” he said. “Without Bella, we would have been delayed another couple of weeks and could have had potential bad outcomes including life-threatening infections.”
Bella added, “In that moment, everything was hectic and crazy in the couple of days. I just wanted to do everything I could.”
Doctors drew just more than a liter of blood, including bone marrow, from Bella’s leg through a needle placed in her hip. Then it was transfused into Sofia’s body through a central line in her chest, and the entire procedure took about six hours.
Watkins said following her chemotherapy, Sofia’s white blood cell count was at zero, and her hemoglobin and platelet levels decreased to the point “where she needs constant transfusions,” so getting the healthy stem cells from Bella’s body quickly was paramount.
“The bone marrow cells go to that bone marrow, and it goes through several generations (of reproduction),” he said. “That whole process takes about two to three weeks to infuse the stem cells to have a detectible white blood cell count.
“Every day of delay of getting your immune system back is an incremental problem that could cause life-threatening consequences. The risk of dying, if you don’t have stem cells working or producing (more) stem cells, could be as high as 50%.”
Sofia and Bella said they were close before the transplant, but grew even more united because of it.
“She was there for me immediately, and she’s always been, but that was really a life-changing moment,” Sofia said. “I know she’ll always be there for me and always have my back.”
Though the procedure went well, she did experience some side effects.
“I had this neuropathic (condition in) my hands and feet that would cause this really horrible burning sensation that would stick around, especially in my hands,” she said. “I would have to soak them in cold water a lot and in cold washcloths, and then find strategies to cool them down. But I give credit to my nursing team. They were incredible. They would give me new washcloths, and my mom also helped a lot.”
Sofia, who considers herself a “pretty social person,” also said she had a hard time being isolated in her hospital room at a time when the COVID-19 pandemic still hadn’t spread to the United States.
Once she recovered from the side effects, and even a year after the surgery, Sofia is still not 100% yet.
“The recovery from transplant is a long one,” Watkins said. “There’s an initial phase that she’s gone through and she’s done quite well. But she’s basically rebuilding her immune system. We’re in the middle of that.
“Because of the bone marrow transplant, all the vaccinations she got as a child are gone, so she’s like a newborn baby. It takes kids at least a year to get back to a feeling like they did before transplant, but then it takes another year or two for the immune system to get back to normal.”
The good news, he said, is there have been no signs of leukemia since the transplant.
“Her risk of relapse are significantly less this far out,” Watkins said. “… She remains on a chemotherapy drug (Sorafenib) to help keep that from happening and it targets a specific mutation that is part of her leukemia, FLT3. …
“Even though we can find no detectible leukemia in her body, that doesn’t mean it’s not in a part of her body we can’t see. So by adding this drug, if there are cancer cells that are hiding, anytime they come out, this Sorafenib, this drug, would come out (and kill them).”