Friday is the first ever International Day of Recognition for Angelman Syndrome.
The rare brain disorder has always been around, but was recently brought to light when award-winning actor Colin Farrell told the world his son was born with AS.
Over the past 14 months there have been major steps toward a cure, and one Kansas City girl is part of the trials.
Kacie Kubis just turned 11 last week, but she functions more like a 2-year-old. Her mom Tanja helps her perform routine tasks.
"We have to dress her, bathe her, take her to the restroom, feed her, every aspect of her living," Tanja Kubis said. "She relies on someone else."
Kacie has Angelman Syndrome, or AS. It's a rare brain disorder only affecting about one in every 15,000 births. It's caused when a certain gene doesn't work properly, causing the brain to get backed up with information.
"In a regular typical brain that protein will dump excess worn out cells, so what is happening in Kacie's brain is it's accumulating. The dumping isn't happening," Tanja Kubis said.
People with AS develop slower, have coordination problems, rarely talk and some suffer from seizures.
In the past AS was thought to be untreatable, but a new human clinical trial expected to be complete next month is giving new hope for a cure.
Kacie is one of 24 people participating in the trial.
It studies how the antibiotic Minocycline can treat people with AS. The same study cured mice of Angelman Syndrome.
"The mouse started being able to make the connections, it started going through the maze like a typical mouse would," Tanja Kubis said.
Her mom is already seeing Kacie improve and said it's just a matter of time and funds for her to be like everyone else.
"My hope for Kacie is that she will eventually be able to lead a more meaningful life, that we will be able to speak to her and that she will be able to say 'mommy' and she will be able to walk across the room to me, and that's my hope for her," Tanja Kubis said. "I am going to make that happen any way I can for her. I'm going to fundraise, I'm going to talk to anyone who will listen to me pretty much and try and raise money for this, absolutely."
The Foundation for Angelman Syndrome Therapeutics, or FAST, is funding the research for the trials. So far, Minocycline treatment has improved behavior, attention and communication.
For those who'd like to fund the research, the restaurant Ruby Tuesday has partnered with FAST to donate 20 percent of their proceeds on Friday to AS research.
The Belton and Independence, MO, restaurant locations are participating.
People will have to bring a flyer with them. Click here to access the flyer and see participating restaurant locations.
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