Tracy Antonelli was 4 when she was diagnosed with thalassemia, a rare blood disorder that occurs often enough in Mediterranean countries like Italy that an old adage, uttered only partially in jest, warns Italian-Americans against marrying other Italian-Americans.
In 2002, Tracy wed Patrick Mooty, whose background is mostly Irish. Their three daughters — 7-year-old Emmilene, 6-year-old Rosalie and 3-year-old Francesca — all have thalassemia, but not through the accident of the couple’s genetics. Tracy and Patrick adopted the girls from China, specifically because they, too, have the potentially life-threatening disease, which, according to conservative estimates, occurs in about 10,000 pregnancies a year in China and about 600 a year in the United States.
“This is the most rewarding, perfect experience I’ve had in my life,” says Tracy.
In mother and daughters, their bodies do not make enough oxygen-carrying red blood cells. Their disease is severe enough that their lives depend on the blood transfusions they receive every three weeks and daily medication to prevent iron overload. Tracy calls it a “cumbersome but manageable” way to keep herself and her daughters healthy.
“When people think of blood transfusions, they think about car accidents or surgery or to complement treatments like chemotherapy,” she says. “People like us need constant regular transfusions just to live.”
Every 21 days, the three young girls sit side by side for hours in an outpatient room at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, tethered to IV poles delivering healthy red blood cells. They come armed with computer tablets and games and books and art supplies and toys. A tutor visits to ensure the older girls keep up with their schoolwork. Other days the girls are busy enjoying ice skating, gymnastics, cooking, reading and playing – and on one of those other days, Tracy gets her transfusion at Dana-Farber Cancer Institute.
“I inherited a lot of great things from my parents, but thalassemia ended up being the best thing because it put me on this journey,” Tracy says. “My daughters have sisters who are also adopted from China. They have thalassemia. I have what they have, and they have each other.”
Long before she married, Tracy was intrigued by stories about families adopting abandoned girls from China. By the time she and Patrick were ready to start a family, China had eased its one-child-per-family policy and most children available for adoption now have special needs, including thalassemia.
In May 2011, Tracy opened an email from an adoption agency. “There was a picture of Emmie. Underneath it said ‘thalassemia,’” Tracy recalls. “From that moment this became our life’s work.”
“We don’t make decisions easily,” Patrick says. “This felt right instantaneously.”
While the suburban Boston family’s situation is unusual, the Cooley’s Anemia Foundation, a national thalassemia patient advocacy group, estimates that about 10 percent of new pediatric thalassemia patients are now children adopted from China. At Dana-Farber/Boston Children’s, about a quarter of pediatric patients with transfusion-dependent thalassemia are adopted from China, says pediatric hematologist Dr. Daniel Bauer.
“The cases I’ve seen, the kids had gotten relatively minimal care in China,” Bauer says.
The Mooty girls all arrived from China with dangerously low hemoglobin levels. “Now they’re getting world-class medical care and will likely have a normal life expectancy,” their father says.
The only cure for thalassemia is a stem cell transplant, preferably with a matched sibling donor, which the Mooty sisters don’t have. Even with an ideal donor, the procedure carries risks, including the risk of graft-versus-host disease and a 5 percent mortality rate. Gene therapy, using a patient’s own genetically corrected cells rather than donor cells, is on the horizon.
“Gene therapy has advanced quite a lot,” Bauer says. “There are still challenges, but a number of trials are showing promising early results and more trials are expected.”
Tracy is watching.
“Once they refine gene therapy, it could be a safer option,” she says. “That’s something to be excited about.”
Learn more about thalassemia care at Dana-Farber/Boston Children’s.