Since she's missing an ingredient, Sophia is seen by a hematologist every month at SUNY Upstate Medical University Hospital and travels to Boston once a year. Eventually, she will need blood transfusions to maintain the disorder.
"As of right know she is defying all the odds," Scott said. "Her hemoglobin numbers are still way up. The doctors seem baffled and have no answers."
At 27 months old, Sophia has not needed any transfusions, something her doctors thought she would require by 5 months old, he said.
"We go to the Boston Children's Hospital every year," Jennifer said about the ongoing monitoring and treatment Sophia undergoes with the disorder. "With proper treatment she can live a long life. It could be fatal if you don't do anything about it."
That's why the Care Walk for Cooley's Anemia is so important for those who have the disorder and the families affected by it. The walk will help raise awareness of thalassemia and funds to help finance research into managing the disorder in hopes of one day finding a cure.
"They have no clue what it's about, how serious it is, so I'm hoping it brings awareness to the community about how serious a disorder this is," Jennifer said.
Jennifer said she believes the money raised at the Care Walks across the United States on May 1 will remain in the U.S. and those who participate will help with research funding for heart failure, osteoporosis and gene therapy - all pieces of the Cooley's anemia puzzle.
Right now the only cure for Sophia, the Stagnitta's first-born, would be a bone marrow transplant from an exact match donor - a sibling. Though a bone marrow transplant would increase the chances of being cured, the procedure is extremely painful and there is a mortality rate, albeit small, attached to the procedure.