A different kind of angel

Girl, family cope with difficult genetic disorder

By Michael Hines/Times Record News
December 6, 2006

Eliza Bartlett giggled and smiled even as she slammed so hard into her father it made him wince and catch his breath.

The 4-year-old will laugh even when she hurts herself.

With big, sparkling blue eyes and a winning - if mischievous - grin, Eliza looks like any other child. Her parents know she is anything but.

Eliza has Angelman Syndrome, a neurological disorder that means she grunts or makes raspberry noises instead of speaking - and that she faces a lifetime of dependence. Often diagnosed as autism, the condition is gaining greater attention.

"It's going to be long-term care," said her father, Tim Bartlett, 42. "Your child will always need somebody. What happens when Mom and Dad are gone?"

Angelman Syndrome affects one of every 15,000 to 20,000 people in the U.S., said Steve Skinner, director of clinical services at Greenwood Genetic Center in South Carolina. It doesn't seem to be hereditary and is characterized by several symptoms, according to the Angelman Syndrome Foundation. Those include a jerky gait and inability to remain still for more than a few moments, speech impairment or not speaking at all, frequent laughter and smiles and a happy demeanor.

Tim Bartlett is a maxillofacial prosthodontist stationed at Sheppard Air Force Base. The family moved to Burkburnett in July and has had to adopt a number of strategies to protect Eliza.

"We've had to Angel-proof" the home, he said.

Their home has no houseplants and few vases or other floor ornaments. Knickknacks and keepsakes are kept on shelves at least three feet out of Eliza's reach. The other children keep toys in their rooms, the reason illustrated by a toy truck Eliza promptly put into her mouth. At night, Eliza sleeps in what amounts to a giant crib. Changing the girl's diaper means Rebecca Bartlett has to sling a leg over her daughter to keep her still.

The family stays home a lot. To have nights out, Rebecca Bartlett typically asks her parents to come to town from Missouri to watch Eliza.

Expectations have had to be changed, Tim Bartlett said. One of the best Christmas presents came two years ago when Eliza walked for the first time. She was four months shy of turning 3.

"You have smaller accomplishments - using a fork and spoon. What other people take for granted, we take for goals," Tim Bartlett said. "You just have to look at things differently."

Angelman Syndrome mirrors many symptoms of autism. A key distinction is the cause of the affliction.

There is no known cause for autism, Skinner said, but researchers point to a host of genetic causes for Angelman Syndrome. Research points specifically to the gene UBE3A as the culprit. It helps breakdown damaged or unnecessary cellular proteins, but sometimes mutates. Many problems also occur at Chromosome 15, where the gene is located. The chromosome provided by the mother is sometimes missing some material.

"The material inherited from the father is turned off," Skinner said. "If you're missing material, you're not using the information from the active gene."

Recognizing the difference between autism and Angelman Syndrome is key to coping with it.

"Treatment may be inappropriate" if autism is diagnosed instead of Angelman Syndrome, Skinner said. "The genetic counseling is different, explaining to parents the risk that it may happen again. They may be making decisions based on the wrong information."

The official Angelman Syndrome diagnosis first came in the 1960s. This year, the National Institutes of Health has funded a pair of studies at four institutions - the South Carolina facility, Baylor College of Medicine, and children's hospitals in San Diego and Boston. One study focuses on the basics of the disorder while the other uses nutritional supplements as a possible treatment. With 500 people expected to participate, the projects are one of the largest investigations into the disorder, Skinner said.

The Bartletts will be included in the project at Baylor.

Tim and Rebecca Bartlett met while working at the dental clinic for the University of Missouri-Kansas City. They married May 8, 1993. Starting a family proved difficult, though. Fertility problems meant six years of trying to have a child before artificial insemination resulted in their first daughter, Hattie. A surprise came about 11 months later. Rebecca Bartlett was pregnant.

"Evidently, my body got a jumpstart," the 36-year-old said and laughed. "When I found out she was a girl, I had thoughts about her and Hattie playing Barbie, trading clothes, growing older and fighting over boyfriends ... Of course, none of that's possible. I've had to let go of those dreams."

The couple had one more child, Glenn, by the time problems with Eliza had begun to show.

"She wouldn't make any babbling noises," Rebecca said. If she sat Eliza upright, she would fold over.

"Most kids were crawling" by her age, Rebecca Bartlett said. "She couldn't even sit."

They were living in Virginia at the time, and doctors told the Bartletts that Eliza would recover. Eighteen months later, though, things hadn't improved much. Finally, a genetic test revealed the syndrome in 2005.

Eliza is actually one of the higher functioning children with the condition, her parents said. Others are wheelchair bound or have seizures. Still, the family has gone through four televisions because Eliza will push buttons so much that electrical systems short circuit. A flat screen television is mounted on the wall to keep it away from the 4-year-old's hands. Lamps aren't kept in the front room because Eliza will chew through cords.

But the family refuses to let the syndrome keep them from making a life for themselves. Rebecca Bartlett has crafted bibs out of T-shirts so Eliza can attend I.C. Evans Elementary School like Hattie, who is in kindergarten. And Hattie is the first to tell others about her younger sibling, Rebecca Bartlett said.

What's more, the 6-year-old knows caring for her sister won't be easy. It will be done, though.