Gina Rugari

Krabbe's Leukodystrophy 

Gina was born with Krabbe’s leukodystrophy. This is a rare, degenerative enzyme disorder of the nervous system, in which the baby shows initial signs of irritability and developmental delay or regression. Seizures and fevers often follow, then blindness and deafness until the baby dies, usually before age 2. Gina was tested for Krabbe’s leukodystrophy shortly after she was born, because she had a brother who had died from the disease. 

Doctors treated Gina with chemotherapy to destroy her immune system, and introduced new umbilical cord blood stem cells from a closely matched donor. The transplanted cells produced the missing enzyme. Her body accepted the cells, and she is thriving several years after the transplant.

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