Inside the World of ADNP Syndrome: Mother Shines Light on Autism Awareness Month

Rowland Egerton-Warburton is quick to smile. He is bubbly, expressive and, generally, quite happy — whether he’s taking a walk on Coopers Beach, swimming, flying his kite, or, as his family recently discovered, fervently hunting for Easter eggs.

Earlier this month, Rowland and his sister, Charlotte, scoured their yard in Water Mill for the 112 plastic eggs hidden by their mother, Genie, who watched her son pop each one open and claim the prize inside, joy spreading across his face every time.

“It was like the first time where, as a mom, I felt like he really understood the concept of picking up the egg and running to get the other egg and laughing,” she recalled last week, “and I just felt like he was so present.”

For many parents, they see their children make this connection, or a similar one, at around age 2 or 3, Egerton-Warburton explained — but Rowland is 10.

Six years ago, he became one of 54 people in the world diagnosed with ADNP syndrome, a rare neurodevelopmental genetic disorder that is among the most common causes of noninherited genetic autism, Egerton-Warburton said.

Today, Rowland is nonverbal, wears diapers and after jam-packed days of interventional services, still sleeps in a special needs bed. His family is on a journey to find medications to help with his aggressive maladaptive behaviors, his mother said, and they are beginning to see progress — which gives her hope.

“Ultimately, for Rowland’s future, I pray that he can be able to communicate and speak someday, or to be able to sign, or to be able to communicate through an iPad,” she said. “He needs to have a voice. There’s so much inside of him that needs to come out.”

Rowland Egerton-Warburton was born on November 15, 2012, with a clean bill of health following extensive genetic testing in utero. “My doctor placed him on top of my chest and said, ‘You’ve given birth to a perfectly healthy, normal baby boy,’” his mother said.

But soon after, she and her husband, Jamie, noticed that Rowland had a notched eyelid, clenched fists, and an unusual gaze toward lights and moving objects. He would meet developmental milestones — such as cooing appropriately, pulling himself up and crawling — but a few days later, progress would stop, she said.

Then his eyes started crossing and his sleep was erratic. At one point, he tripped over a hula hoop and needed 42 stitches in his chin, Egerton-Warburton said — and he never cried.

“I always felt like I knew something was innately different or wrong, but I wasn’t able to pinpoint it myself,” she said. “And it was kind of a scary feeling as a mom to have.”

That feeling would drag on for months, and then years, until at age 4, Rowland saw an endocrinologist at New York-Presbyterian/Weill Cornell Medical Center. By this time, he had a thyroid condition, had undergone two eye surgeries, a tonsillectomy and adenoid removal, as well as two sets of hearing tubes.

“I just started crying to her,” Egerton-Warburton said. “I said, ‘I need help. We need help.’”

That same day, the doctor sent the family to a genetic counselor, who ran new tests. A couple of months later, an email came asking to meet with them in person. And when the parents received the diagnosis, they realized that the Activity Dependent Neuroprotective Protein (ADNP) gene mutation was not on Rowland’s genetic panel — because it was discovered the same year he was born.

“It was kind of like a catastrophic blow, at that moment, to hear that he had this syndrome,” Egerton-Warburton said, “and at that point, they said that he was one in 54 human beings in the world that had been diagnosed with it.”

According to the ADNP Kids Research Foundation, a mutation in the ADNP gene can cause problems with neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, those with ADNP syndrome can experience mild to severe delays in intelligence, speech and global motor planning, and it causes behavior disorders, including autism spectrum disorder, in a substantial proportion of cases.

“One in 36 children are diagnosed on the spectrum. Last year, I think it was one in 44,” said Egerton-Warburton, who is the vice president of ADNP Kids Research Foundation. “It’s becoming so prevalent and it’s something that I think people now are talking more about. But there is a stigma.”

On May 1, just after the conclusion of Autism Awareness Month — which wraps up at the end of April — Egerton-Warburton will speak to students at The Ross School’s lower campus about inclusion and autism, she said.

“This is something we should be talking about,” she said. “To me, it is just as important as people talking about mental illness or just being different in society. Why are we hiding something that’s so prevalent?”

In the years since Rowland’s diagnosis, the Egerton-Warburtons have thrust themselves into autism advocacy, both in their public lives — where they push for genetic testing and early intervention, and joined the board of the Seaver Autism Center at Mount Sinai Hospital in Manhattan, which they introduced to ADNP syndrome — as well as behind closed doors, where they work with a robust team of specialists to help their son.

“I’ve had numerous conversations — really healing conversations — with parents about what it means to be a parent of a child with such a profound disability and how to embrace it, as opposed to being scared of it,” Egerton-Warburton said. “At the end of the day, he’s a human being and he’s our son, and we created him and we’re gonna help him the best that we can.

“But I can’t say it’s been easy,” she continued. “At the same point, he’s taught us so much about compassion and gratitude and coping on a day-to-day basis with things that most typical parents would take for granted.”

In 2020, Rowland participated in a small clinical trial, conducted by the Seaver Autism Center, that injected 10 children with a low-dose infusion of a type of ketamine that is an FDA approved treatment for use in anesthesia and pain management. Preclinical evidence suggests that low-dose ketamine may increase expression of the ADNP gene, which is deficient in children like Rowland with ADNP syndrome.

They were then monitored for a month, undergoing safety checks, clinical evaluations and biomarker studies using electrophysiology and eye tracking.

But Egerton-Warburton didn’t need data to see positive changes in her son. The morning after the infusion, when she greeted Rowland, he said, “Mommy,” completely unprompted.

“It was almost like something had clicked with him,” she said, noting that his social awareness improved. “It led to some promising feelings that this may be a drug that ultimately may help with the neuropathways in his brain. So that’s definitely something that we want to continue exploring, that we’re looking into trying to fund another trial that involves more kids at Mount Sinai down the road.”

After the trial, Rowland continued to meet milestones, but ultimately regressed — losing the connections that he was making, from basic memorization of “heads, shoulders, knees and toes” to potty training. As his maladaptive behaviors worsened — pinching, pulling hair, slapping and sometimes biting as a means to communicate frustration — his parents decided to integrate their holistic approach with western medicine.

“We want him to be acclimated, we want him to have friends,” his mother said. “I mean, he’s 10 and he’s never had a birthday party with any friends in his life. We have been working with a psychiatrist in the Hamptons, who sat my husband and myself down and said, ‘You two need to think about his world through his eyes.’”

Seeing the world through Rowland’s perspective has “opened it up in so many different ways,” Egerton-Warburton said, and has taught both her and strangers life lessons. One day at the Parrish Art Museum in Water Mill, an older couple approached them and asked why she was allowing her son to “scream.”

“He wasn’t screaming, but he was making a seal bark,” she said, explaining the “stimming” behavior. “I turned around and I said, ‘Well, my little boy has a developmental disability that is related to autism, so he’s severely autistic and he has a rare brain disorder that affects every gene of his body — and he’s not in a library. And they’ve accepted him here at this museum, and so I apologize that he’s bothering you, but he has every right to be here.’”

The couple was mortified, Egerton-Warburton said, and apologized to the family. When she got home, she sat down and cried.

“I’m crying now,” she said, her voice hitching. “It felt like a triumphant moment for me to be able to speak about it openly to strangers in the Hamptons. But I think knowledge is power, and it was liberating to be able to justify that my son’s different and there’s nothing wrong with it.”

It can be easy for Egerton-Warburton to get bogged down by the crushing reality that her son has a debilitating disorder — until she sees his face light up in ways she doesn’t expect. It is for that reason that the Easter egg hunt will become a year-round tradition, she said, adding to the Rolodex of moments that bring him — and her — joy.

“My mission as a mom is just to spread the word about the importance of embracing autism, doing the genetic testing and understanding that inclusion is cool,” she said. “It’s okay if your child is different and to expose the world to your child, because, ultimately, your child has a gift — and it’s a beautiful one at that.”