ORLANDO, Fla. (WOFL FOX 35) - Two weeks ago, a Central Florida family received a diagnosis for their child that would set them on a yet-to-be-mapped journey -- their 18-month-old son has a genetic disorder, so rare, it affects only 100 children worldwide.
Ian Ortega was no longer developing, and in fact, he was actually regressing. Doctors diagnosed him with GM1 Gangliosidosis, an extremely rare and often fatal genetic disorder. "There's really no treatment or cure. Just research trials...no conical trials. We are just keep be our fingers crossed and hoping for something out there," said Ian's mother, Shawnel Ortega.
"The earlier the diagnosis, the more severe is the disease, because it means the child is progressing very fast," explained Dr. Gustavo Maegawa, a University of Florida researcher of pediatric inherited genetic and metabolic disorders.
Dr. Maegawa has never met little Ian, but the information he shared with me tonight is news that can potentially save Ian's life. "There's promising research coming to clinical trials soon ... that can actually rescue the defective enzyme," he said.
Right now, there is no FDA-approved treatment, but Dr. Maegawa is hopeful there may be in the next 3-4 years.
For Ian, that could be soon enough, which is why his mother is now on a mission to raise money for research. Learn more by clicking here.