Esther is one of about only 4,000 people in Pennsylvania with sickle cell disease, an inherited blood disorder in which a genetic mutation causes abnormal C-shaped, or sickle-shaped, red blood cells. The disease can cause lung problems, acute chest syndrome, stroke and other complications. It also can be fatal.
The disease largely affects the Black community. About 9 in 10 people in the United States who have sickle cell disease are of African ancestry or identify as Black, according to the federal National Heart, Lung, and Blood Institute.
The only known cure is stem cell and bone marrow transplants. Treatments -- such as blood transfusions, medication and bone marrow or stem cell transplants -- help mitigate complications. But in late 2023, the U.S. Food and Drug Administration announced a breakthrough: approval of two milestone treatments, Casgevy and Lyfgenia, representing the first cell-based gene therapies for the treatment of sickle cell disease in patients 12 years and older.
"Children with sickle cell disease ... have a high risk of stroke when they are just a few years of age. Nowadays we can prevent 90% of strokes by doing a test to determine if the child is at risk. If the child is at risk, we put them on transfusions -- transfusions prevent strokes," said Dr. Enrico Novelli, director of the Adult Sickle Cell Program at UPMC. "In the past because stroke was so common, some children were left with long-term neurological problems and others developed cognitive dysfunctions."
Adults with sickle cell might have memory loss and the inability to concentrate.
For Esther, and her two sisters and parents, gene therapy could be a breakthrough.
"When that time comes, I will absolutely consider it," said Esther's mother, Claudeen Nkemakolam, 43, of New Kensington, referring to her daughters.