Fueling hope for Rett Syndrome

Published: Feb. 16, 2018 at 12:17 PM CST
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Like most nine-year-olds, Laurel Cooper has a lot of personality.

“I think she’s a pistol,” said Laurel’s father Jason Cooper.

It’s something her parents have never doubted about the smiley girl.

“I think she’s singing in her head all the time,” said Jason.

But communicating with Laurel is difficult for her parents Jason and Heather, because Laurel has no control over her body.

Laurel has Rett Syndrome. It’s a non-inherited brain disorder, typically found in girls. Kids like Laurel are born perfectly healthy, but eventually lose their ability to speak, eat and move.

“It really is an awful, awful syndrome. Teeth grinding, sleep issues, [gastrointestinal issues], inability to walk, inability to use her hands, it’s pretty much everything rolled up into one syndrome,” said Heather Cooper.

One in 10,000 people have Rett Syndrome. The disorder is gaining national attention after NBC’s Richard Engel shared the story of his son’s recent diagnosis.

“It’s not just delay. It means lifelong permanent, physical and intellectual impairment,” said Engel on the Today Show.

It’s caused by a mutation on a gene called MECP2. At the Waisman Center at the University Wisconsin-Madison Doctor Qiang Chang is studying the gene, and is hopeful a cure will be found in Laurel’s lifetime.

Chang’s research is working to stop some of the symptoms of Rett Syndrome. Specifically, Chang hopes to reduce, and in some cases eliminate seizures in Rett Syndrome patients.

“Even if we cannot treat all of them, treating some of the key symptoms would be a big help for quality of life for these patients,” said Chang.

Chang said his research, along with other research around the United States is helping investigators better understand Rett Syndrome, which is leading to promising tests and trials.

“The fact that we’re doing clinical trials suggests that we have accumulated enough knowledge that we can test something in patients,” said Chang.

While research is promising, for now the Cooper family takes things minute by minute.

“It’s hard because she can’t communicate so I have no idea what is wrong,” said Heather.

While Laurel has no control over her body, mentally her brain is okay. The family says she goes to school, plays with friends and her sister, and tries to do things most nine-year-olds love.

“We just hope Laurel has a really good quality of life. Feels loved and is able to experience as many thing as her friends get to experience,” said Jason.