It’s every parent’s worst nightmare — watching your child die right before your eyes. But that’s exactly what’s happening to the family of Eliza O’Neill.
Eliza has a rare disease called Sanfilippo Syndrome (or MPSIII). Sanfilippo Syndrome is a terminal and degenerative genetic disease that affects approximately 1 out of 70000 births worldwide. Currently there is no cure, and no treatment. However, clinical trials in gene therapy at Nationwide Children’s Hospital in Ohio have successfully stopped Sanfilippo in animal testing, and they are prepared to move forward in human trials, tentatively scheduled for late 2014.
For children like Eliza, these trials and the timing of them is critical. Every day’s delay is another day in the progression of this disease toward the live-altering (and ending) symptoms that are a certainty. Most children with this disease have irreversible brain damage and lose the ability to speak by age six. That’s less than two years from now for Eliza. As the disease continues to progress, she will lose the ability to walk, and eventually she won’t even be able to feed herself as seizures ravage her body. Her family clings to the hope that these clinical trials hold the answers and the treatment that they so desperately need.