Living with Rett Syndrome

By DANIELLE LYNCH

WEST GOSHEN — Gabriella DiSaverio stopped walking and babbling when she was 1½ years old. She used to be able to do these things until the onset of Rett Syndrome, a neurological disorder that causes a child to lose mental and physical abilities.
Gabriella tapped on her toy piano while her mother, Debbie, sat on the floor nearby.
“She just taps,” her mother said.
A neurologist found that Gabriella had the MECP2 gene which is associated with Rett Syndrome, DiSaverio said. She was told by the doctor that her daughter would never be able to walk or talk again.
“It felt like everything was pouring out of me,” DiSaverio said. “I’m still grieving – I’ve accepted the fact she’s disabled.”
Currently, a physical therapist, occupational therapist and a speech therapist work with Gabriella, who is now 5. Cognitively, she’s at the level of a 2-year-old, her mother said.
In addition to the tapping, Gabriella does a wringing motion with her hands and if she falls, she can’t get back up without help.
“During sleep, she’s beautiful,” DiSaverio said, through tears. “I think: how she can be so not normal – that’s the toughest.”
Milestones such as birthdays and holidays are hard for parents with special needs children. DiSaverio said she didn’t want to celebrate Gabriella’s fifth birthday. She said it’s also hard to deal with the extended family at times.
It’s also difficult taking Gabriella out in public, said her mother. People stare at Gabriella because she has a pacifier in her mouth, DiSaverio said.
DiSaverio also struggles with health insurance coverage for Gabriella’s needs and had to quit her job to watch her. In addition, she said having a child with special needs puts a toll on marriage. But she said she’s found some relief from a parent support group.
“I’ve learned a lot from talking to other parents,” DiSaverio said.
Because her daughter cannot speak, it’s a guessing game to know what she needs, DiSaverio said. When she cries, Debbie knows something is wrong so she calls the pediatrician.
Last year, Gabriella only weighed 21 pounds and at the most would eat seven pieces of a pancake. At the end of last November, she got a feeding tube put in, her mother said. She’s now 25 pounds.
The Arc of Chester County has helped Gabriella a lot because she’s learned to express herself, DiSaverio said.
“All I want to do is see her walk,” Debbie said. “I’m optimistic that she’ll walk someday.”
DiSaverio said there needs to be more places for parents of special needs children to get resources and review options.
“People need to know it’s not easy,” she said.
Rett Syndrome mainly affects females and is considered a rare autism spectrum disorder that affects one out of 10,000 to 15,000, according to the National Institute of Mental Health.

For more information about Rett Syndrome, visit the International Rett Syndrome Foundation and the National Institute of Mental Health.

To contact staff writer Danielle Lynch, send an e-mail to dlynch@dailylocal.com.