Life with Angelman Syndrome

A father, two brothers and a wife (left to right) sit on a couch with their dog.
The Gurzick Family | Photo by Heather M. Ross

When the Gurzick family, of Frederick’s historic district, first learned that their son had Angelman syndrome (AS), a rare condition, they did what many parents in their shoes do—they dove into the research.

“As someone who has a son with this rare condition, I think we all kind of investigate and we go through a process of discovery trying to figure out what the heck is going on and what potential hope we have toward improving upon this,” David Gurzick says.

According to Mayo Clinic, AS is a genetic disorder that causes delayed development, problems with speech and balance, intellectual disability and sometimes seizures. For Gurzick’s son, Chandler, it means he requires physical and occupational therapy, which helps him regulate the sensory information he receives. Chandler is also nonverbal but does not suffer seizures.

Though symptoms for AS may be similar to other disorders, it can be tough knowing that more specific answers for AS and other rare diseases are hard to come by.

Angelman syndrome—named for Harry Angelman, the doctor who first investigated the symptoms—occurs in only one in every 15,000 live births, according to the Angelman Syndrome Foundation. For the Gurzicks, it occurred in the birth of only one of their two twin sons, (9).

The ‘Happy’ Syndrome

Chandler’s diagnosis came after his parents noticed he wasn’t reaching his developmental milestones. The cause was first attributed to the boys’ premature births. But when Chandler’s brother, Alexander, began meeting milestones Chandler wasn’t, the Gurzicks knew it was time to see the doctor.

Soon, Chandler was diagnosed with AS by specialists at Kennedy Krieger Institute in Baltimore.

There are a few different ways a person can have AS, according to David Gurzick. All of these interfere with the function of a gene found on chromosome 15, the UBE3A gene, or ubiquitin-protein ligase E3A—which affects the body’s ability to make or regulate proteins.

“It’s a condition where kids are known to present as extremely happy, so [Chandler] has the most infectious laugh that can make anyone in the room laugh,” David Gurzick says. “The juxtaposition is, I mean, he smiles because that’s his way to stabilize his jaw, and that laugh is, it’s almost uncontrollable because he has a hard time regulating that.”

Be Your Own Advocate

Like many parents of a child with a rare condition, David Gurzick got involved with the community and became an expert and advocate for people with AS.

Learn about Ehlers Danlos Syndrome, another rare condition.

Last summer, Gurzick’s advocacy made its way all the way to the Congressional Rare Disease Caucus, which works to advance education and legislation pertaining to specialized or uncommon health issues and diseases like AS.

“It’s a daily battle, a condition that never recedes into the background but instead dictates our thoughts, our routines and our finances,” he said in his address to the caucus. “And yet, despite the daily challenges, we have hope.”

The hope Gurzick describes at the Rare Disease Caucus comes in part from advancing research from organizations like the Foundation for Angelman Syndrome Therapeutics (FAST) and the economic incentives of the Orphan Drug Act of 1983.

Gurzick’s other son, Alexander, has also become an advocate. Alexander recently spoke to his school and gave a presentation about his brother’s condition to help raise awareness.
But Alexander isn’t just standing up for his twin at school, he’s supporting him everywhere they go together.

Whenever Chandler gets upset or is having a hard time, Alexander tries to be there to remind him to take deep breaths, hug himself and focus on the positives.

Staying positive is important, both for people with AS and for supporters in their families and communities.

“It’s very easy to get caught up in all of the things that one can’t do, and sometimes that leads people to just make the natural assumption that something can’t be done, but you know, when you kind of take this mindset of pursuing potential, you can kind of face it from a different lens,” David Gurzick says.

The Frederick Community

Though rare diseases especially can make patients feel like they are alone, support groups can help connect individuals going through the same challenges with each other—sometimes, even in their local communities.

The Gurzick and Elias families met through a non-local Facebook group for Angelman syndrome, but both live in Frederick.

Mark Elias is a middle school teacher at a Frederick County Public School and his wife, Melanie, is a high school business teacher. Like the Gurzicks, they, too, have fraternal twins—13-year-old Chase, who does not have AS, and Claire, who does.

At this time, there is no known association between being a twin and having AS.

Frederick’s community has made a tremendous difference in the lives of the Elias family, says Claire’s father, Mark Elias. They moved to the area in part because Frederick had better education and clinical support options for Claire compared to what was available in Martinsburg, West Virginia.

Claire attends Rock Creek School in Walkersville, where Mark Elias says the faculty is up-to-date and prepared when it comes to supporting Claire as she navigates life with seizures and other health complications.

Because of her seizures, Claire spends a lot of time in her wheelchair and can no longer engage in the therapeutic horseback riding she had been participating in, but Angelman hasn’t stopped her from enjoying life.

Claire still loves horses and enjoys watching videos of the animals. She likes Mulan, chicken nuggets and spending time with her family.

“We’re very fortunate that we have family and friends that are very understanding and very kind of accepting, if that’s the right term to use, and my son’s friends are very, very good with her as well—they all treat her just like she’s somebody else’s sister, so we’ve been very fortunate, and the Frederick community itself, too, is really awesome with kids with special needs,” Mark Elias says.

In another parallel to the Gurzick family, the Elias family also used research to become their child’s strongest advocates.

Mark Elias says he was surprised at first how little most doctors know about the condition, and unless he’s working with a specialist, he says he’s come to expect that he’ll be filling the doctor in on Claire’s condition. But since Claire was first diagnosed 13 years ago, Elias says the AS community has made strides in bringing awareness to the condition.

While there is ongoing research, publicly available treatments for AS are currently limited to anti-seizure medications, sedatives, physical therapy, behavior therapy and occupational therapy.

Despite these frustrations, knowing Claire can live with AS without people treating her differently makes a big difference.

“When you encounter someone, any child—especially kids with Angelman syndrome who are very friendly, very social, just talk to them like they’re anybody else. The parents, the kids—they all appreciate that,” he says.