Rett Syndrome Often Misdiagnosed As Autism
MIAMI (CBS4) - Miami resident Gia, 6, was diagnosed with Autism for the first three years of her life, according to her mother Gisel Gonzalez. But the diagnosis wasn't accurate. Gonzalez told CBS4's Cynthia Demos how that mistake made her feel.
"Horrible. Really bad," said Gonzalez.
Gia's mother focused on speech therapy and treatments for Autism.
"The not knowing is the hardest part," she said.
It turned out that Gia had Rett Syndrome, something that is on the Autism spectrum but doesn't exhibit symptoms until age 18-months to age three. The syndrome also requires different therapy.
Lucky for Gia, she doesn't have the seizures that are often associated with Rett Syndrome, since most other victims do.
"It's really hard on the parents cause you don't know when it's going to happen," said Gonzalez.
Autism deals with the inability to have social interactions such as problems with language or communications. Rett Syndrome is an Autism Spectrum Disorder that affects girls primarily. Typically, the person cannot speak, loses muscle tone, has diminished eye contact, wringing of the hands and little to no use of their hands.
Had Gisel known her daughter had Rett Syndrome instead of Autism, her mother would have focused on eye contact and communication instead of speech during those first three years of Gia's life.
Now Gisel and her sister are on a mission to make a real difference for others. The two started an organizations in Gia's honor called "God's Innocent Angels..." or GIA.
"We want to make it 100 percent volunteer based," said Teri Rios, Gia's Aunt.
The response has been very positive. The sisters are in the midst of becoming an official non-profit organization. They want parents to know what they've learned.
"You have to keep finding the right doctor until you find the one you are comfortable with," said Gia's mother.
They want people to know what Rett is, that it is genetic, and that if you suspect Rett Syndrome, a genetic blood test should be done.
"Get the correct therapy cause therapy is so important," Gia's Aunt emphasized.
Gia's mom agreed. "It's not easy, but you can't not keep going forward. You can't stop and say, 'ok that's it, I'm going to stop and not do anything cause there is no cure. You have to keep pushing forward."
The sisters plan to open the God's Innocent Angel's Center at a hospital in Miami. There is also a Rett Awareness walk every year in Broward County.
