During the first years of her daughter's life, Paula Evans spent as much time in hospitals as at her Chicago-area home. She's spent the last six building an organization to save her. Ainsley, now nine, was born with Angelman syndrome (AS), a rare genetic neurological disorder affecting roughly one in 15,000 children that impairs movement and, in most cases, makes speech impossible. She suffers severe cognitive impairments and devastating seizures. Until recently, researchers considered AS incurable.
"I wasn't going to wait for the science," Evans says. Instead, she has tackled the need for a cure like an entrepreneur: by starting the Foundation for Angelman Syndrome Therapeutics (aptly acronymed FAST) and raising over $2 million herself. The organization consists of a remarkable team of scientists, parents, and advocates funding one of the most aggressive research initiatives into a rare disorder ever conceived.
Evans decided she had to do it herself because AS is such an uncommon condition. "When a family receives an unusual diagnosis, there are usually fewer standard avenues of help available to them," says Nate St. Pierre, spokesman for GiveForward, a crowdsourcing site for medical expenses. AS research received less than $500,000 in federal money during 2013 compared to, say, the $12 million psoriasis research got. Drug companies have little incentive to investigate treatments for a condition that affects a small cohort.
Evans found all the incentive she needed to found FAST when she started parsing through the limited AS studies. This debilitating disorder might be curable, she realized. "Five years ago, people thought we were crazy when we said we could cure this," she says.
AS exists when a single gene from the mom's side—UBE3A—is either absent or mutated. In 2007, researchers at the University of South Florida turned on the normally dormant paternal copy of the gene in AS mice. Symptoms disappeared. Uncovering whether the treatment applied to humans, however, required money—at least $20 million by Evans's estimates.
Evans and her expansive team of researchers, advocates, and other AS families have rallied since 2008 to bring a therapy to humans through fundraisers, corporate charitable contests like Vivint Gives Back, and a PR campaign that enlists celebrity spokesman Colin Farrell, whose son James has AS.
In 2012, FAST funded the first clinical trial of an antibiotic that has erased AS symptoms in mice. Twenty-four children participated in FAST's study, which concluded in 2013 and is undergoing peer review. With the official results pending, Evans disclosed that brain scans detecting one aspect of AS—the brutal seizures—came back totally normal in children who received the drug.
FAST is now funding a $1.5 million rapid research initiative that unites 24 experts in genetics, learning, epilepsy, and other fields to collaborate in real time. Normally scientists from different labs work in silos; one can't build on another's work until it's been published.
"Crudely, it's like an assembly line to a cure," Evans says. "But it also spurs so much innovation. They've accomplished a crazy amount in just one year." Next, FAST is funding the development of four new animal models for testing three potential treatments. They've already improved muscle control and reduced seizures in mice.
Though Ainsley is severely disabled, she is, in her own way, just as hard-charging as her mother. She communicates through her own sign language and recently finished fourth grade at a public school. A few weekends ago, as Evans shuttled her young foster son from the car to the house, Ainsley laid on the horn. She blamed her Fancy Nancy doll for the riotous noise. Evans doesn't get angry when Ainsley acts out—she wants to cheer.
"It shows how that brain is working," Evans says. "She was always my inspiration, always will be my inspiration."
[Image: Flickr user Phoebe]