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.
Saturday, May 25 2013 5:40 PM EDT2013-05-25 21:40:13 GMT
Two people are dead after a helicopter crash north of Springfield, MO. The chopper went down late Friday night in Hickory County. It was owned by Lucas Oil, which operates a speedway in the county. PreliminaryMore >
Two people are dead after a helicopter crash north of Springfield, MO.More >
Saturday, May 25 2013 5:19 PM EDT2013-05-25 21:19:54 GMT
A short police chase following a vehicle running a stop sign ended with a couple being taken to the hospital in handcuffs. Police said they tried to stop a vehicle that had run a stop sign near 55th StreetMore >
A short police chase following a vehicle running a stop sign ended with a couple being taken to the hospital in handcuffs.More >
Saturday, May 25 2013 4:38 PM EDT2013-05-25 20:38:03 GMT
A man dropped off at a police refueling station is in critical condition Saturday. Police said he showed up at the gas station, located at 26th Street and Prospect Avenue, about 1 a.m. with several gunshotMore >
A man dropped off at a police refueling station is in critical condition Saturday.More >
Friday, May 24 2013 9:01 PM EDT2013-05-25 01:01:17 GMT
Strong feelings are funning high one day after the Boy Scouts of America reversed its policy on gay scouts. The decision upset one Kansas City man so much that he decided to make a very personal protest.More >
Strong feelings are running high one day after the Boy Scouts of America reversed its policy on gay scouts. The decision upset one Kansas City man so much that he decided to make a very personal protest.More >
Saturday, May 25 2013 2:12 PM EDT2013-05-25 18:12:27 GMT
ROCKVIEW, MO (CNN/AP) - Federal investigators are trying to determine how two freight trains collided in southeast Missouri early Saturday morning, injuring seven people. Authorities say the two trainsMore >
Two trains collided in Missouri Saturday morning, causing an overpass to collapse and injuring seven. More >
Saturday, May 25 2013 1:59 PM EDT2013-05-25 17:59:50 GMT
A multiple vehicle collision has closed lanes of eastbound Interstate 70 Saturday afternoon. The wreck happened on the interstate, just past Brooklyn Avenue. Two left lanes are closed. There's no wordMore >
A multiple vehicle crash has closed lanes of eastbound Interstate 70 Saturday afternoon.More >
Saturday, May 25 2013 1:41 PM EDT2013-05-25 17:41:59 GMT
Police are investigating after they said a man tried to abduct a woman from a Grandview home. The incident happened Friday about 11:20 p.m. at East 129th Street, just east of US-71 Frontage Road. TheyMore >
Police are investigating after they said a man tried to abduct a woman from a Grandview home.More >
Saturday, May 25 2013 7:00 AM EDT2013-05-25 11:00:14 GMT
(KTXL/CNN) - A California man scarfed down more than 11 pounds of apple pie ... and somehow lived to tell the tale. Jamie "The Bear" McDonald consumed two giant apple pies in an attempt to break two worldMore >
Eleven pounds of pie in 10 minutes? No sweat. More >
Friday, May 24 2013 7:31 PM EDT2013-05-24 23:31:26 GMT
A nurse who serves on the Kauffman Stadium K-crew was able to revive a 14-year-old girl who collapsed during Thursday night's game.The girl was dancing in the upper-deck stands when she suddenly collapsed.More >
A nurse who serves on the Kauffman Stadium K-crew was able to revive a 14-year-old girl who collapsed during Thursday night's game.More >