Front Royal girl upbeat despite genetic disorder

Christine Jenkins of Front Royal holds her 10-year-old daughter, Carlie, who has Rett syndrome, a rare genetic neurological disorder that affects mostly females. Rich Cooley/Daily

FRONT ROYAL — Fifth grader Carlie Jenkins can’t walk or talk, but according to her mother Christine “Chrissy” Jenkins, the 10-year-old expresses herself through her eyes.

Diagnosed with Rett syndrome at the age of 3, Carlie has made some progress through physical and orthopedic therapy, and also takes speech therapy, but she will never recover. Rett syndrome has no cure and no official treatment, her mother said.

A rare neurological disorder, it begins after birth and usually affects females, according to the website http://www.rettsyndrome.org. It affects one of every 10,000 female births worldwide — 20 children of any race every day — but although genetic, it’s not hereditary. It’s caused by a mutation on the X chromosome of a gene called MECP2.

More than 200 different mutations have been found on that gene. Rett syndrome is often misdiagnosed as autism, cerebral palsy or non-specific developmental delay.

“We knew something wasn’t quite right by about 10 months,” Jenkins said. “By 10 months of age, she wasn’t reaching her milestones.”

Usually girls with Rett syndrome develop normally up to about 18 months before regressing, but that wasn’t the case for Carlie.

“She never walked or talked,” Jenkins said. “She never crawled. She was late sitting up.”

A specialist in Charlottesville thought she just had low muscle tone, so Carlie’s parents took her to physical therapy. After more testing for two more years, they consulted a doctor at Johns Hopkins, who recognized the symptoms immediately. A blood test confirmed the disorder.

“I mean, at one time Carlie could hold things in her hands, and then she lost that,” her mother said. “She just has repetitive movements that she does. She grinds her teeth constantly through the day.”

Carlie is the only Warren County resident with Rett syndrome Jenkins knows of, and she knows another in Winchester.

“It’s not something that a lot of other people have heard of,” said Jenkins.

But Jenkins has found support online through a group through the International Rett Syndrome Foundation and said she’s learned no two girls with Rett syndrome are alike. Some progress more quickly than Carlie has through the help of therapy. Some even start walking as late as age 16, Jenkins said.

Until recently, Carlie progressed to walking with the help of a walker, but after knee and hip surgery to correct dislocations, she won’t put weight on her leg.

Despite the surgeries, her knee still dislocates itself.

“She has a high pain tolerance, we have found,” Jenkins said.

Though she sleeps 12 hours a night and naps twice during the day, Carlie has been more tired lately than she used to be. Her bedtime was 6:30 p.m., until Carlie started nodding off an hour earlier each night.

She takes four anti-seizure medications and reflux medication. Since August 2012 she has been tube fed on an advanced form of Pediasure with added fiber.

But Jenkins said Carlie is generally happy, and she involves Carlie in everything she can, including classes at Ressie Jeffries Elementary School.

“She’s always been a people person,” said Jenkins. Even as a baby, Carlie wouldn’t play with toys, but enjoyed watching faces.

At school, friends in her classes talk with her, and she responds by blinking. While her classmates are outside or in the gym, Carlie often rides an adapted bike.

At home, she listens to music and enjoys “Junie B. Jones” chapter books. Recorded episodes of the cartoon “JoJo’s Circus” have been her favorite since she was 3.

“Carlie has taught us to be thankful for what we have, … and to be patient,” said Jenkins. “Lucky for us, Carlie is so easy-going.”

“When she’s happy and she smiles, she just lights up a room.”

Contact staff writer Josette Keelor at 540-465-5137 ext. 176, or jkeelor@nvdaily.com