Angelman Syndrome Community Finds Hope in Local Group's Gala with Colin Farrell

Originally published December 2011

Most places she goes, Darien resident Paula Evans has to do a lot of explaining about her 7-year-old daughter, Ainsley: why she can’t speak, why someone must constantly watch over her, why she has seizures.

But there’s one night a year when Evans doesn’t have to do any explaining.

“You guys know all about the challenges our kids face,” she told the 500 guests at the fourth annual Foundation for Angelman Syndrome Therapeutics (FAST) gala Saturday at the Hyatt Regency in Chicago.

Evans founded FAST to help fund research toward a cure for Angelman syndrome, a rare genetic disorder that manifests when a single gene on the maternal 15th chromosome is either absent or fails to switch on. 

Children born with AS have motor difficulties and are unable to speak. But they’re also incredibly loving, cheerful kids eager to befriend everyone they meet.

Families traveled to Saturday’s gala from as far away as New Zealand, Ireland and France. 

Actor Colin Farrell, whose son James has AS, was the event’s guest of honor. 

“I come here as the very proud parent of an 8-year-old boy with Angelman syndrome,” he said. 

Farrell said he decided to go public a few years ago about his son’s condition as a means of bringing more awareness to the often-misunderstood disorder.

Research into a therapy for AS is at a critical juncture, with funding the primary obstacle toward finding a cure.

Researchers believe there is nothing inherently wrong with children who have AS—they just need that absent gene to tell all the parts how to work.

A little more than three years ago, researchers at the University of South Florida successfully restored the missing gene in mice. 

“If we can do this in a mouse, there is no reason we can’t do it in humans,” said Edwin Weeber, a leading AS researcher and the gala’s keynote speaker. 

This summer, FAST won a in the Vivint Gives Back Project—almost exactly equals how much money researchers need to fund a clinical trial in humans of the drug that worked in mice.

The clinical trial will start in early 2012.

Tami Mugler’s 22-year-old daughter Harli Kirkpatrick was diagnosed as an infant, which was very unusual at a time when many AS children were said to instead have Cerebral palsy or autism. 

Just a few years ago, Mugler said the idea of a cure didn’t even cross her mind.

“It’s pretty powerful for parents like me with an older child because it has literally changed the landscape,” she said. “Now we see a landscape with an actual horizon where the sun comes up, the days are brighter and the nights are shorter.”

In addition to raising money to support research, the gala also provided parents of children with AS an opportunity share their stories within a community that understands their daily struggles.

Tom Fennelly and his wife, Ann Marie, have an 11-year-old son, Sean, with AS. They said the gala was a special opportunity to meet face-to-face with parents they knew only from AS groups on Facebook.

“The hardest part of it is not knowing what you’re up against,” Tom said. “Once you have the name of other parents, you’re able to share your trials and concerns.” 

“The community gives so much hope and has done so many positive things,” Ann Marie added. “We don’t ever feel alone.” 

The gala included a silent auction to raise additional research funding. Kirkpatrick contributed one of the most special items in that auction. 

Kirkpatrick is able to communicate through an iPad and at this point, is one of the few people with AS who can share what it’s like to live with the condition. Using her iPad, she wrote a book entitled The Walk with Me.

One simple phrase puts into profound focus why parents of children with AS so relentlessly seek a cure. 

“Brain not broken,” she wrote, “but some curves in the road.”

Read more about Colin Farrell's appearance at the gala in