Courtesy by: cnylink.com
Thirteen-month-old Sophia Stagnitta, of East Syracuse, will grow up receiving blood transfusions.
Little Sophia was diagnosed with Beta-Thalassemia Major, also known as Cooley’s Anemia, when she was 11 days old, her mom Jennifer said last week at Skaneateles High School. Jennifer and Sophia were in town for a blood drive being held in Sophia’s honor at the school where her dad, Scott Stagnitta, is a middle school teacher.
Beta-Thalassemia Major is a genetic blood disorder that prevents or greatly reduces the body’s ability to produce adult hemoglobin and causes anemia, which is a lack of iron.
Jennifer said Sophia thankfully has not had to have any blood transfusions yet, but each month the family goes to University Hospital’s Pediatric Hematology/Oncology department to have the toddler’s hemoglobin level tested.
“Her hemoglobin level has been up and down, but in the normal range,” Jennifer said.
While Sophia’s levels have fluctuated between 10 and 11, once the levels drop to a 6 or 7, she will need at least one transfusion each month. But with transfusions also come more concerns as receiving blood can cause an iron overload, which in turn will mean Sophia will have to endure therapies to remove iron from her blood. The two methods of removing iron are either through taking a pill orally, but not everyone can take it, or through a method called Chelation Therapy, which requires a needle to be inserted into the body to aid in removal of heavy metals.
“The only way to cure this is a bone marrow transplant,” Scott said, but even then the marrow has to be an identical match from a sibling.
The entire process for a bone marrow transplant would be seven months or more.
“If we were going to do it that way, they want to do it while she’s young,” Scott said.
The younger she is, the less likely it will be that her blood is overloaded with iron, and she would have to be closely monitored.
One issue that stands in the way of even looking into bone marrow transplant is Sophia is Scott and Jennifer’s first child — she has no siblings to be matched to.
“We definitely want another child,” Jennifer said, adding she and Scott have met with a genetic counselor and are aware there is a 25 percent chance of having a second child with Beta-Thalassemia Major. “It’s a lot to think about.”
According to Jennifer, after being diagnosed, her hematologist said Sophia may need her first transfusion at 6 months old but has been fortunate to come this far without having to receive blood.
“I think the hardest part is looking at her and knowing something is wrong,” Scott said.
But for the unknowing person to look at Sophia, she appears to be a normal, active and perfectly healthy 1-year-old. She’s full of energy and on target as far as height, weight and other such benchmarks.
“She’s very active. You’d never know what’s going on,” Jennifer said.
While the blood disorder is rare in the United States and Canada with only around 700 people being affected by it, Jennifer said that’s not the case in places like Italy where a large portion of the population has some form of Thalassemia. Both Jennifer and Scott are of Italian descent and therefore there was a chance they may pass the disorder on to Sophia.
There was no prenatal screening for the disorder or much reason for concern when Jennifer was pregnant, though, as both parents are young and in good health.
For the time being, the young family is living life as normal with a monthly trip to the hematologist.
“We’ll try to keep it normal for her,” Jennifer said.
One thing they have learned is not to dwell on it. Another is to be thankful for things like the Red Cross blood drive on Thursday, where there was an overwhelming amount of support from the community for Sophia.
Sophia may not receive blood donated last week by Skaneateles’ teens and teachers, but the donations will help replenish the blood supply and will go to those who need blood now.
According to statistics from the American Red Cross, at some point in our lives, 80 percent of us will require a blood transfusion and only 4 percent of eligible donors donate.
“We’re honored they would think of Sophia,” Jennifer said.