Blood Relatives: Family Bound by Love and Rare Blood Disorder

Tracy Antonelli was four 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, a grown-up Antonelli 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 because of the couple’s genetics. Antonelli and Mooty adopted the girls from China, specifically because they also 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,” says Antonelli, “is the most rewarding, perfect experience I’ve had in my life.”

Antonelli and her children Emmilene, Rosalie, and Francesca.

In mother and daughters with thalassemia, 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.  Antonelli 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, their mother gets her transfusion at Dana-Farber Cancer Institute.

Christmas 2014, a few days after Frannie arrived in the United States.

“I have what they have, and they have each other,” Antonelli says. “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.”

Long before she married, Antonelli was intrigued by stories about families adopting abandoned girls from China. By the time she and Mooty 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, Antonelli opened an email from an adoption agency.

“There was a picture of Emmie. Underneath it said ‘thalassemia,’” Antonelli recalls. “From that moment this became our life’s work.”

“We don’t make decisions easily,” Mooty 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 Daniel Bauer, MD, PhD.

“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. But 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 five 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.”

Antonelli will be watching.

“Once they refine gene therapy, it could be a safer option,” she says. “That’s something to be excited about.”

Hear Antonelli tell her story: