“We still have a long journey in front of us, but as of right now, all her doctors are floored by her progress,” said her mother, Jacquelyn Stockdale.
Symptoms usually include progressive vision loss leading to blindness, seizures, movement disorder, dementia and early death.
“Vision impairment is the only symptom she displays of this disease, and we are fighting with everything we have to ensure it stays this way. We were told on diagnosis day that that day was the healthiest Isla would ever be, and that she was at her peak; two years later, and she has continued to defy that,” she continued.
Researchers are running a clinical trial on Miglustat, which the Food and Drug Administration has already approved for the rare genetic disorder Gaucher’s disease.
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