When Sadie was diagnosed with Sanfilippo syndrome eight years ago, we thought we had so many options. Five clinical trials were enrolling or starting soon. Gene therapy was viewed as the top option, so we were advised to hold out for something that might be better than a stem cell transplant. SCT has minimal, if any, impact on brain degeneration. Gene therapy and enzyme replacement therapy can theoretically pass the blood-brain barrier. Unfortunately, Sadie didn’t get into any gene therapy studies. She did get into an enzyme replacement study, but it only lasted from age 3-5. It was an impossible decision, but we did what we thought was best for Sadie.
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