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Born with Fanconi anemia, a rare congenital condition frequently characterized by small thumbs, with only 3,000 cases worldwide, Anthony Arroyo is fortunate doctors detected his condition early. He’s even more fortunate pediatric experts treating his condition practice close to home at Children’s Hospital Central California.

AnthonyBorn on Feb. 23, 1998, doctors hospitalized Anthony in Fresno, four days after birth due to a high fever. During this time doctors noticed Anthony’s disproportionately tiny thumbs in comparison to his hands and fingers, raising concern. Anthony’s parents, Juanita and Ronald Arroyo, had accepted their son’s small thumbs as a birth defect he would have to live with. One of Juanita’s sisters has short, stubby thumbs but wasn’t affected by the life-threatening disease.

X-rays indicated that Anthony’s thumbs were misshapen. Anthony’s doctors suspected he had an inherited disorder and referred him to Children’s Hospital’s Genetic Medicine and Metabolism Clinic to determine his condition. The multidisciplinary team provides diagnosis, genetic testing and counseling for children with congenital abnormalities.

Because Fanconi anemia can exhibit some of the same signs and symptoms as other diseases, special testing is needed to support its diagnosis. Children’s clinical geneticists examined Anthony and suspected he had Fanconi anemia because of his small thumbs. Birth defects, including small thumbs, are red flags for the condition. A chromosome-breakage study confirmed their suspicion. Chromosomes of people with Fanconi anemia are fragile and break easily when exposed to certain chemicals during the study. A chromosome test revealed that Anthony’s parents were carriers of the defective gene for Fanconi anemia and had passed it to their son.

In November 2000, Children’s clinical geneticists diagnosed Anthony with the rare disorder that affects less than one in 350,000 and leads to bone marrow failure. The bone marrow is a blood cell factory producing red cells that carry fresh oxygen from the lungs to cells that need it, white cells that fight infection and platelets that help with blood clotting. Children with Fanconi anemia sometimes aren’t diagnosed until their bone marrow begins to fail. Many patients with the disease do not reach adulthood. Fortunately for Anthony, his condition was diagnosed in a timely manner. Although Anthony didn’t need a bone marrow transplant then, doctors knew he would someday require it.

Anthony’s mother, Juanita, was seven months pregnant with Anthony’s sister, Annalyza, when his condition was diagnosed. Hope rested with his unborn sister as neither of Anthony’s parents was a genetic match for their son. If Annalyza were healthy and a genetic match, blood from her umbilical cord could be saved to provide a transplant for Anthony. However, there was a 25 percent chance that Annalyza could also be born with Fanconi anemia. Fortunately Annalyza was born healthy and did not have the disease, but a blood test also determined that she was not a genetic match for her brother.

Following his diagnosis, Anthony was referred to Dr. Robert Mignacca, medical director of hematology and acting medical director of oncology at Children’s, who has expertise in treating rare hematologic disorders. “It’s unfortunate that he has the disease but we’re fortunate that Dr. Mignacca was very familiar with Fanconi anemia,” said Juanita.

Dr. Mignacca and the multidisciplinary team at Children’s hematology practice currently treat 15 Fanconi anemia patients, including Anthony. He was seen monthly to check his platelet and white and red blood cell counts. Low counts signal bone marrow problems. “Dr. Mignacca and his staff were so great, he monitored him very closely,” said Juanita.

In October 2001, the Arroyos learned Anthony’s counts were too low. The need for a bone marrow transplant was imminent. “It’s an awful disease that has a terrible prognosis – transplant is the best option we have at the moment,” said Dr. Mignacca. “Your chromosomes are fragile, so they are more likely to develop changes that result in bone marrow failure and cancer.”

Anthony’s name was placed on the transplant waiting list, but the Arroyos didn’t just passively wait – they took action. In collaboration with their friends and church, the Arroyos organized several bone-marrow donor registration drives. They also held an annual golf tournament to raise funds and awareness about Anthony’s condition. Featured in the media, Anthony became a local celebrity and the community rallied in support.

Dr. Mignacca and the Arroyos worked together to keep Anthony strong until a donor match could be found. “We kept him as healthy as we could, as long as we could,” said Juanita.

Finally in February 2004, the Arroyos received the call they had been waiting for. A perfect match had been found for Anthony – a 51-year-old woman from Oregon. In July 2004, the family headed to a facility in Los Angeles for Anthony’s bone marrow transplant. Anthony was just 6 years old.

The donated bone marrow was treated to remove cells that might harm Anthony. Then the donor’s marrow cells were infused into a large vein in Anthony’s chest. The donor’s cells migrated into his marrow. Within weeks his bone marrow started producing blood cells and his counts started getting better. As soon as the transplant was completed and Anthony was stable enough to come back home, 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,’” said Juanita. “Dr. Mignacca was one of the reasons we were able to go home.”

Back in the Valley, Dr. Mignacca saw Anthony every two weeks after his transplant and administered immunosuppressant medicines so that his new immune system wouldn’t reject his body – the opposite of what happens with an organ transplant, in which the body rejects the donated organ. Throughout his ordeal, Dr. Mignacca and staff provided pediatric subspecialty care tailored to his condition. “He’s really great – he rocks,” said Anthony of Dr. Mignacca.

Although the transplant corrected Anthony’s problem, there is no cure for Fanconi anemia. The Hospital’s hematology practice continues to see him, as his condition requires lifelong monitoring.

“Unfortunately, it’s not as if we cured his Fanconi anemia, we only cured the bone marrow complications related to it,” said Dr. Mignacca. “The fragile stem cells that used to live in his bone marrow are not there anymore, but if any of the cells in the rest of his body decide to do something awful like start cancer, he can still have trouble.”

“Because of my illness, there are some things I can’t do,” said Anthony, now a seventh-grader at Alta Sierra Middle School in Clovis. Though short in stature, Anthony is big when it comes to perseverance and heart. “Hopefully I’ll be able to play sports,” said Anthony, who has loved basketball since tossing a foam basketball through a mesh hoop as a toddler. “I can really shoot.”

Just as Anthony has learned to live with limited use of his thumbs, he has also learned to live with his condition, thanks in part to Dr. Mignacca and the multidisciplinary team at Children’s hematology practice. “He’s a tough guy, a real trooper!” said Dr. Mignacca. “Thanks to all of the family’s hard work, Anthony has a bright future.”