Josephine Bila and her family figure she has needed more than 2,000 needle sticks and 1,200 blood transfusions to stay alive.
Bila was diagnosed at age 2 with beta thalassemia, a rare disorder that prevents the body from producing enough functioning red blood cells.
As a result, the 42-year-old web producer for a television network in New York needs a blood transfusion every three weeks. She also needs medication to lower her iron levels, fed five nights a week for eight hours through a pump similar to those used for insulin.
“You have to monitor your hemoglobin level,” she said.
Bila is in the region this weekend to visit her parents – Joycelyn and Nicolo – who moved to Amherst eight years ago from Long Island. All three will be among the dozens who participate Sunday in the fifth annual Care Walk for a Cure.
The 2-mile walk starts at 12:30 p.m. at the Ellicott Creek Park Casino, 1 Ellicott Creek Road, Town of Tonawanda. A post-walk gathering will run till 4 p.m. For more information or to register, visit tinyurl.com/buffcares.
Proceeds will benefit the nonprofit Cooley's Anemia Foundation, which funds research and offers patient services for those with thalassemia.
“The walk is really to raise awareness because it's such a rare disease that no one's ever heard of it,” Joycelyn Bila said.
About 1.5% of people globally carry the gene mutations that cause the blood disorder, the Bilas said. They estimated that includes more than 1,000 in the region.
It used to be called Mediterranean anemia because it is more prevalent among those of Italian, Greek, Middle Eastern, Indian and West Asian descent.
One-quarter of those whose parents are both carriers don’t end up with the condition, half get a mild to moderate form, and one-quarter, like Josephine, get a major version. She has the most severe form, Cooley’s Anemia, named for the doctor who discovered it; her younger sister, Gloria, does not have the trait.
Doctors often first mistake the milder form for anemia, which can become dangerous if injections of extra iron are prescribed. That can lead to jaundice and hospitalization, as it did for Joycelyn Bila when she was a teen.
“I run on the anemic side, but there's really not too much that can be done about that,” Josephine’s mother said. “The only time I needed blood transfusions was when I was pregnant.”
Josephine, born seemingly healthy, was diagnosed after she became pale and lethargic as a toddler, and her parents both were found to be genetic carriers of the condition.
Those with milder forms need fewer infusions to keep thalassemia at bay. Bone marrow transplants recently have begun to prove an effective cure for some with a major form who receive a transplant by age 16. Researchers continue to explore gene editing and stem cell treatments for others.
Meanwhile, transfusions, a low-iron diet and healthy lifestyle are paramount – as are others willing to donate blood.
“The gift of blood,” Joycelyn Bila said, “is the gift of life.”