With a grin on her face, 6-year-old Ainsley Evans bounded toward her friend Gina, wrapping her in a warm hug as Gina arrived at Ainsley’s Darien home.
Ainsley’s got a lot of love to share with the world, but she also has a powerful story that her mother, Paula Evans, hopes will soon reach a wider audience.
Ainsley was born with Angelman syndrome, a rare genetic disorder characterized by cognitive delays that impact both movement and speech.
It’s a little known and often misunderstood disorder, which doctors frequently misdiagnose as autism or cerebral palsy.
But unlike those disabilities, researchers believe a cure for Angelman is near. They know what needs to be done. They just need the money to be able to do it.
Evans co-chairs the Foundation for Angelman Syndrome Therapeutics (FAST), an organization she started about three years ago with other parents of children with Angelman to help fund research for a cure. FAST recently partnered with Yahoo! in a campaign to educate people about this syndrome that affects one in 12,000 to 20,000 people, according to the National Institutes of Health.
Angelman manifests in children when a single gene on the maternal 15th chromosome is either absent or fails to switch on.
“Angelman syndrome represents with a complex and wide array of symptoms,” said Dr. Edwin Weeber, a top Angelman researcher. “However, it is a relatively simple genetic disorder with only one gene being the culprit.”
Weeber, director of the Murine Neurobehavior Laboratory at the University of South Florida, discovered three years ago how to restore that gene—UBE3A—in mice. Now comes the challenge of replicating that process in people.
“We know how to cure it,” Evans said. “It’s the funding that’s the roadblock.”
Although she’s on the high-functioning end of the Angelman spectrum, Ainsley cannot speak, instead communicating through a modified form of sign language.
Like many people with Angelman, she also experiences seizures, which are controlled by a combination of medications. From ages 1 to 4, she suffered a series of health problems that Evans said culminated in heart surgery.
Children born with Angelman have a typical lifespan, said Dr. Rebecca Burdine, an assistant professor of molecular biology at Princeton University and FAST’s chief science officer.
But for parents of children with Angelman, every day is fraught with worry.
A high proportion of people with Angelman die from seizure-related injuries. Because people with Angelman retain childlike sensibilities throughout their lives, Burdine — whose own daughter was born with Angelman — said a guardian must keep constant watch over them, lest they wander into the street or drown in a pool.
Ainsley’s inability to speak is one of the toughest parts for Evans, she said.
“The lack of speech can be even more horrific than you can imagine,” Evans said.
The silence combined with an extraordinarily high tolerance for pain can make everyday injuries life threatening for children with Angelman, Burdine said.
“We’ve seen kids walk around on broken legs for several days because they couldn’t tell anyone about the pain,” Burdine said.
When Ainsley was 3, Evans said one of her teeth became infected. Because she couldn’t tell her mother about the pain, Ainsley’s infection spread, eventually putting her in a coma. At one point, doctors told Evans and her husband that Ainsley wouldn’t live through the night.
Remarkably, she survived. But there still are daily heartaches.
“It’s little things, like she can’t tell me how her day was,” Evans said.
Despite the challenges, Ainsley is an incredibly loving and warm little girl — both of which are characteristics of the syndrome.
“She is always very happy, laughing and smiling,” Evans said. “She wants to engage with people immediately."
Deborah Guagliardo, FAST’s chief financial officer and the mother of Ainsley’s friend Gina, said she’s constantly impressed with Ainsley’s spirit and humor.
One time as the Evans and Guagliardo families gathered together, the lights suddenly went out. Guagliardo heard a giggle, and sure enough Ainsley was standing by the light switch, getting a kick out of the trick she had pulled.
“Just because she can’t speak, don’t underestimate her,” Guagliardo said.
Ainsley attends Mark DeLay Elementary School, where she’s part of the La Grange Area Department of Special Education multi-needs program. She goes to music classes with all the other children at the school, Evans said.
Intellectually, Ainsley is a regular first-grader. She reads at grade level, and in kindergarten, she could do math at a second-grade level, Evans said. These realities can make the path toward finding the cure all the more frustrating.
“Our kids aren’t missing anything,” Evans said. “They have everything they need.”
They just need the gene that will flip the switch to make all the neurons work.
When Weeber restored that gene in adult Angelman mice, so, too, did he establish their ability to move and learn like typical mice.
“That kind of changed everything,” Evans said. “Until then, there was no hope.”
Funding a cure
Despite having a cure in sight, Angelman’s low profile makes it a tough sell for fund-raising.
Angelman research received less than $500,000 in funding in 2010, according to reports from the National Institutes of Health. Roughly $58 million went to autism research.
“Since it is fairly rare, you don’t have a lot of people raising awareness,” Burdine said.
But despite its rarity, Angelman shares enough similarities with disorders, such as autism, Fragile X and Rett syndrome, that Weeber said its cure could have a far wider reach.
“It is quite possible that discovery of an effective therapeutic for Angelman syndrome will translate to these other disorders as well,” Weeber said.
So far, FAST has raised about $275,000 for Angelman research. The group holds an annual benefit, “An Evening with the Stars,” which always features at least one famous face.
Actor Colin Farrell is an outspoken FAST supporter. His 7-year-old son was born with Angelman.
"The families involved with FAST have created a strong support network while tirelessly assisting those dedicated to finding a cure,” Farrell has said.
FAST’s efforts are being mirrored by Lace Elementary School, whose volunteer group Kids4Good organizes the annual event Silent Angels.
In 2009, roughly 1,500 elementary school students across the district spent part of the day in silence to raise awareness for Angelman through the initiative SpeakOut4AS. And in December, Kids4Good members, without uttering a word, made angel ornaments to be displayed at the gala.
Guagliardo’s daughter Gina, 9, first introduced Kids4Good to Ainsley.
“I felt like I was changing some lives,” Gina said. “I wanted kids to hear how Ainsley’s voice sounded.”
Kids4Good Director Cynthia McGann said she knew spreading awareness about Angelman was a worthwhile cause for the group after seeing how the kids responded to Ainsley when they met her.
“I know Paula is constantly amazed at how she'll come in contact with a child or a parent who recalls meeting Ainsley through the SpeakOut4AS events two years ago,” McGann said.
“I think one of the biggest takeaways for many of the K4G members was just how normal and fun Ainsley was in spite of her disorder. Her inability to speak in no way prevented her from being able to connect with the other students.”
Now, through the Yahoo! partnership, Evans hopes increased awareness on a larger scale will help accelerate the search for a cure.
Yahoo! produced a short film about Angelman that it featured Tuesday. The film chronicles a New Jersey family’s struggle with the syndrome and visits the Florida labs at the epicenter of Angelman research.
“It’s the most accurate visual piece about Angelman I’ve ever seen,” Evans said.
But even as she waits for a cure, Evans hopes the Yahoo! campaign will accomplish another more immediate goal — helping people understand what it means to be born with Angelman.
A few years ago, Evans said she brought Ainsley to a playground where two other girls whispered and stared at her daughter.
But their younger brother, who was still very little, marched right up to play with Ainsley.
Evans understands when people are ignorant of Angelman. But when they are, she said she just wants them to have the courage to ask questions.
“All I want is for my child to be included,” Evans said.
For more information, please visit www.CureAngelman.org.