Little Gracie from Wapwallopen used to lug a book over to her dad and ask for a story.
But it’s been a long time since she’s asked him to read to her. It’s been a while since she’s talked. Or played with her toys the way she used to.
The root cause of this heartbreaking regression, her mom, Amanda, explained is Rett syndrome, a genetic disorder that almost exclusively affects little girls, stealing their voices, their coordination and their interaction with other people.
“We felt so alone,” said Amanda, who asked that her last name not be used.
But Amanda isn’t alone. After her daughter’s diagnosis came earlier this year, at age 3, Amanda found a friend in Pam Scarano of Fairview Township, whose 9-year-old daughter, Francesca, has the same disorder, diagnosed years earlier.
“We are like glued together,” Amanda said.
“I feel like she’s been in my family forever,” Scarano said.
While neither mother wants to see any child suffer, both are grateful they can compare notes, buoy each other’s spirits and share the hope that researchers will find a cure. Already, progress has been made with gene therapy in mice, Amanda said.
In the case of both local girls, each seemed to be developing normally, starting to walk and talk like any eager-to-learn toddler. Then their parents watched with growing concern as their daughters started to retreat into themselves.
With Gracie, who is soon to turn 4, the problems started in August 2012 after her family returned from a vacation to Jamaica and found out she had salmonella. Because of that illness, Amanda spent a lot of time with her daughter, “watching her like a hawk.” Gradually she noticed the subtle changes, how Gracie was speaking fewer words, growing more silent and beginning an unusual pattern of clapping and hand wringing.
Amanda and her husband, Chris, consulted many doctors, who ruled out autism and scheduled the little girl for blood work and genetic testing along with an MRI and EEG. “Everything came back normal,” Amanda said, except for the genetic test that was positive for Rett Syndrome.
The disorder is named after Austrian pediatrician Dr. Andreas Rett, who first described the symptoms. It is caused by a mutation of the MECP2 gene on the X chromosome.
The disorder almost exclusively affects girls, who have two X chromosomes. If a boy had the mutation on his single X chromosome, according to the National Institutes of Health, he would likely die shortly after birth because he doesn’t have “a back-up copy that could compensate for the defective one and … no protection from the harmful effects of the disorder.”
Rett syndrome affects an estimated 1 in 10,000 to 15,000 live female births and can lead to seizures, scoliosis or respiratory and swallowing difficulties. It also can slow a child’s growth, lead to a loss of coordination and motor skills and cause other problems, from fragile bones to heart difficulties.
It affects some girls differently than others, Scarano said, explaining her daughter tends to lose her balance. “She’ll fall backwards, straight onto her head” unless someone is constantly watching to catch her. Fortunately, nurses visit the family to help with that care, and Scarano’s mother, Diane Filipowich, lives with the family, which includes Francesca’s dad, Tony, and brother, Domenico.
Cognitively, Pam Scarano said, her daughter has the intellectual abilities of a normal 9-year-old and learned to read from watching sign-language videos.
“She absorbs everything,” Scarano said, telling how she once, during a telephone conversation with a friend, discussed a pair of earrings and Francesca, who was in the room, indicated she thought the jewelry would be “expensive.”
If she can’t talk, how did she express that thought?
“With her eyes,” Scarano said. Using a gaze-sensitive communication device, Francesca can look at a particular part of its electronic screen and the device will show the words she wants to get across.
On a recent Friday afternoon, Francesca used the device to communicate that she attends Fairview Elementary School.