Infusing medication directly into the brain stem of an infant was considered a high-risk approach, but neurosurgeon Russell Lonser, MD, decided it might be necessary for a young patient suffering from type 2 Gaucher disease. The child’s parents consented to the experimental procedure, which initially proved successful. However, the boy later died due to other complications related to his genetic disorder. Type 2 Gaucher disease often impacts both the spleen and nervous system and typically results in a life expectancy of less than two years.
Despite the outcome, Dr. Lonser says that the experience has motivated him throughout his career. “At the time, people thought we were crazy to infuse in the brain stem, that this child would die,” Dr. Lonser said about the 2004 surgery. “It was terrifying. No one had ever done it before. But if it had not been done, similar surgical breakthroughs would not have happened.”
Dr. Lonser has since led innovations that have contributed to significant progress in gene therapy for brain disorders.
