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Anthony Arroyo

When Juanita and Ronald Arroyo first saw their newborn’s tiny thumbs, they assumed little Anthony Arroyo had a minor birth defect. One of Juanita’s sisters also had small thumbs with no related health issues. But when he was hospitalized with a high fever, doctors at his local hospital feared he might have Fanconi anemia, a life-threatening genetic disorder characterized by small thumbs.

Anthony‘s doctors referred him to Children’s Hospital Central California, where clinical geneticists conducted a chromosome-breakage study. Anthony’s chromosomes broke, confirming the diagnosis.

“Your chromosomes are fragile,” says Dr. Robert Mignacca, medical director of pediatric hematology at Children’s. “So they are more likely to develop changes that result in bone marrow failure and cancer.”

Tragically, many children with Fanconi anemia are not diagnosed until their bone marrow begins to fail. Essential for survival, bone marrow produces red blood cells that carry oxygen, white blood cells that fight infection, and platelets that help with blood clotting. Anthony’s early diagnosis saved his life.

“It’s unfortunate that he has the disease,” says Juanita. “But we’re fortunate that Dr. Mignacca was very familiar with Fanconi anemia.”

Hope for a second chance

Anthony’s parents learned their son required a bone marrow transplant, but neither was a genetic match to donate. Juanita was seven months pregnant with Anthony’s sister, Annalyza, when his condition was diagnosed. Unborn Annalyza offered hope. If her bone marrow genetically matched Anthony’s, blood from her umbilical cord could be saved to provide a transplant.

Since both Juanita and Ronald were carriers of the recessive gene, any child born to them had a 25 percent chance of inheriting the rare congenital condition with only 3,000 cases worldwide.

Two months later Annalyza was born perfectly healthy. The discovery her bone marrow was not a match did not diminish their hope. The Arroyos placed Anthony’s name on the transplant waiting list and took action. They collaborated with friends and their church to organize several bone marrow donor registration drives. They also held an annual golf tournament to raise funds and awareness. Featured in the media, Anthony became a local celebrity and the community rallied in support.

 Meanwhile Anthony made monthly visits to Children’s hematology practice, where Dr. Mignacca kept an eye on his white and red blood cell counts and platelets. Low counts signal problems. “Dr. Mignacca and his staff were so great,” says Juanita. “He monitored Anthony very closely.”

 In October 2001 the Arroyos learned Anthony’s counts had fallen dangerously low. Their son needed a bone marrow transplant without delay. Dr. Mignacca and the Arroyos persevered in helping Anthony stay strong until a match could be found. “We kept him as healthy as we could, as long as we could,” says Juanita.

Hope for a bright future

Finally, about the time Anthony turned 6, the Arroyos received the long-awaited call. A perfect match had been found – a 51-year-old woman from Oregon. In July 2004 the family headed to Los Angeles for Anthony’s transplant.

The donated bone marrow was treated to remove potentially harmful cells, and then infused into a large vein in Anthony’s chest. The donor’s cells migrated into his marrow, and within weeks Anthony’s bone marrow started producing healthy blood cells. As soon as Anthony stabilized, he returned to the Valley where Children’s Hospital Central California continued his care.

“The doctors in L.A. said, ‘We’re going to send you home because we trust Dr. Mignacca to care for him,’” says Juanita. “Dr. Mignacca was one of the reasons we were able to go home.”

Anthony may have small thumbs, but he has a big heart. “Because of my illness, there are some things I can’t do,” says Anthony, who has loved basketball since tossing a foam ball through a mesh hoop as a toddler. Now a teenager, Anthony has discovered many things he can do. “I can really shoot.”

“He’s a tough guy, a real trooper!” says Dr. Mignacca. “Thanks to all of the family’s hard work, Anthony has a bright future.”