Matt and Karli Hughes of Lakeland have become activists for a rare neurological condition called Rett Syndrome. It affects about one in every 10,000 girls, including the couple's 3-year-old daughter, Emily.
- Rhett Syndrome causes problems in brain function
- The syndrome affects 1 in 10,000 baby girls
- Matt and Karli Hughes have raised $25K through charity for research
The Hughes said Emily seemed pretty normal as a baby, but then at about a year old she stopped talking and was slow to crawl.
They had Emily go through genetic testing.
"The testing came back fine, so that was a huge relief,” said Karli. “But then someone mentioned Rett Syndrome to us."
Further genetic testing confirmed the condition.
Today, Emily still only say a couple of words. She can take a few steps with the assistance of a walker. Her other Rett Syndrome symptoms include hand wringing, placing her fingers into her mouth, heavy breathing, teeth grinding and seizures.
Two days a week Emily receives behavior therapy from applied behavior analyst Kathleen Gawlik. Gawlik gets Emily to perform basic tasks with positive reinforcement, like small snacks and lots of praise.
Gawlik also trains the parents to replicate what she does.
"It’s for us to get her started and then training the parents to do what we are doing," said Gawlik.
The Hughes have become Rett Syndrome activists. They recently raised $25,000 through a charity golf tournament.
"We hope to see a cure in our lifetime," said Karli. “They seem so hopeful right now."