LAKE CHARLES, LA (KPLC) -A thriving two year old girl, suddenly begins regressing.
“Your child, she’s two years old," said Shaine Gaspard. "She’s happy, she’s healthy, she’s exploring the world, she’s playing with her toys, she’s walking, she’s talking and then all of a sudden, that stops. She stops talking, she loses her balance and she can barely walk without assistance.”
Ella Gaspard was misdiagnosed with autism.
Four months later, doctors called to explain she had Rett Syndrome
“Imagine if the symptoms of cerebral palsy, epilepsy, Parkinson’s and autism all in one little girl,” Gaspard said.
Her family said the diagnosis was devastating.
“I felt like she had died,” said Ella’s mom, Lauren.
Rett syndrome is a neurological disorder caused by a mutation on the X chromosome, according to Rettsyndrome.org.
“Something new happens every year with the diagnosis," said Lauren. "One minute she can feed herself, one minute she can talk, she was able to walk up steps, now she can’t walk up steps at all.”
But with a seemingly world-ending diagnosis, the Gaspard’s started Ella’s Hope.
“We decided to turn something that was so sad into something more positive," Lauren said. "It’s to try to help people, try to find a cure.”
October is Rett syndrome awareness month and the family is using Ella’s foundation to raise money to help find a cure for Rett.
Physical therapy, speech therapy and medications are used to treat some symptoms to help patients wth Rett.