Ten years ago, Ben and Elizabeth O’Connor welcomed their first baby into the world—a little boy named Ryan.

“I had a pretty uneventful pregnancy, no testing that signaled any issues,” recalls O’Connor. “Our beautiful little boy was born on December 9, 2014. He passed all of his tests at the hospital, and they sent us on our way.”

But once at home, Ryan couldn’t eat. He cried all of the time because he was so hungry. The O’Connors didn’t sleep for days.

“We were literally feeding Ryan like a baby bird through a syringe,” O’Connor says. “After six weeks of this, they finally did a surgery to open up his airway that helped him eat, and things started to improve.”

But while they were relieved to overcome this hurdle, the O’Connors noticed that Ryan was still missing several developmental milestones.

“His delays were becoming more obvious, so we began early intervention,” she says. “Our physical therapist eventually recommended we see a neurologist. I remember being so offended because I thought Ryan was working so hard and making such great progress. But she was spot on. About a month after she suggested this, Ryan had his first seizure. Even after that, we thought it was just a febrile seizure, something that’s pretty common in children. But then he had a second one and a third one, and then an EEG test showed a brain wave pattern that was very typical of children with Angelman syndrome.”

Angelman syndrome (AS) is a rare neurogenetic disorder that is estimated to affect one in 15,000 people or approximately 500,000 individuals worldwide. People living with AS have a genetic difference on chromosome Ryan and others living with AS do not produce any or remotely enough of something called UBE3A—a protein involved in brain functioning that helps us walk, talk, and perform many other everyday tasks. Symptoms of AS include significant developmental delay, balance issues, motor impairments, debilitating seizures and disruptive sleep. Many with AS do not walk, and most cannot speak.

Ryan was officially diagnosed with Angelman syndrome on July 1, 2016.

“When the neurologist gave us the diagnosis, he told us that Ryan would likely never walk, never talk, or ever live an independent life,” O’Connor says. “And just like that our entire life changed in an instant. We were immediately flooded with all the things ‘Ryan would never do.’ But our family and friends embraced us wholeheartily and reminded us that they would be by our side as we walked this journey one day at a time.”

The O’Connors immediately sought support from the Angelman syndrome community and soon found an organization called FAST—the Foundation for Angelman Syndrome Therapeutics. FAST was started in 2008 by a group of passionate parents relentless in seeking therapeutics for their children living with AS. Sixteen years later, FAST has raised and invested over $50 million in Angelman syndrome research, has outlined a clear Roadmap to a Cure, and now has a paid staff of 16—including as of a year ago Elizabeth—who works as a fundraiser helping to raise critical funds in support of research to cure AS.

“I have been in fundraising my whole career,” O’Connor says. “But this job has been the most fulfilling of my life. Not only do I get to work in honor of Ryan every day, but I have also had the privilege of meeting so many inspiring AS families from around the world doing whatever they can to support FAST’s mission of curing AS.

“Dr. Art Beaudet, a longtime AS researcher responsible for identifying the single gene causing all the problems for individuals living with AS gave our community so much hope when he said, ‘Of all the childhood genetic neurologic disorders of the brain, AS may be the single best candidate for developing a definitive treatment.’ So, to be honest, my dream is to be out of a job as quickly as possible, because that would mean the mission has been accomplished.”

“FAST is proving that better days are possible for Ryan and all who live with AS,” O’Connor says. There are currently 20 therapeutics in the drug development pipeline for AS, 14 of which have been funded by FAST science grants, with four therapeutics currently in clinical trials—one of which is happening at RUSH (University Medical Center) in Chicago.

“A treatment for Angelman syndrome will have a tremendous impact on society at large. The gene that causes Angelman syndrome has been linked to several other diseases and genetic disorders involving learning and memory. The work FAST researchers are doing may be the gateway to life-changing therapies for other disorders, including more common neurological disorders like ALS and Alzheimer’s disease.”

“FAST has inspired us to dream big for Ryan and I’m grateful to be able to use my gifts and talents to ensure better days are coming for Ryan and all who live with Angelman syndrome.”

Ryan has two younger siblings, 7-year-old Patty and 3-year-old Jay.

“Ryan is always watching and learning from Patty and Jay—and they are constantly learning important lessons from Ryan too,” she says. “Patty and Jay are empathetic and compassionate. They have learned to be resilient, flexible and understanding of people’s differences, too. Our days rarely go as planned, but they have proven how capable they are to embracing the unpredictable and we are so grateful for that. Ever since Patty could talk, she would say, ‘This is my brother Ryan. He has Angelman syndrome. He can’t talk, but he understands you.’”

Ryan is turning 10 this month and is in third grade at Lake Bluff Elementary School.

“He’s in a general education classroom with a one-on-one aid,” O’Connor says. “They call him the mayor over there because he is always waving at everyone, and everyone knows him. The kids are really kind to him. I’m incredibly grateful to the team at LBES who recognize all of Ryan’s abilities and not just his disability. They respect his opinions, and honor his feelings, and know that just like other kids, Ryan is entitled to good days and bad ones. They, along with his entire team of therapists, are the MVPs of Team Ryan and we could not be more grateful for their goodness.”

O’Connor is so proud of how her family is navigating Ryan’s journey and beyond thankful for the family and friends who support them.

“Ben and I have learned that the grief around this diagnosis isn’t a linear path,” she says. “We’ll feel like ‘we’ve got this,’ and then something sets us back. We know Ryan challenges our entire family to be our best selves. Some days that task is harder than others. But our goal is to stay present and keep the faith. And being in this community, surrounded by so much kindness and support gives us the fuel to keep going. Ryan is known, loved and accepted here and we couldn’t ask for anything more.”

For more information about Angelman’s syndrome or to donate to further FAST’s ground-breaking research, visit cureangelman.org/donate.