Walking into the Mark family home in Blandon, one of the first to greet a guest is Maverick, age 3.
“His smile is contagious,” said his mother Kim.
“He’s always happy, always smiling,” said his oldest sister Madison, 21.
But Maverick cannot tell them he loves them with words.
Maverick has Angelman Syndrome.
“Angelman Syndrome is a rare neuro genetic disorder that affects 1 in 15,000 live births. It is a deletion of the UBE3A gene on the maternal 15th chromosome,” explained Kim.
She said the disorderincludes severe fine and gross motor skill delays, cognitive impairment, sensory processing disorder and complex communication needs.
“Angels cannot speak. Receptive language is strong, expressive is not,” she said.
There are also seizures and sleep disturbances.
“Angels, however, are very social, loving, and happy!” said Kim. “If you’re having a bad day and he gives you a hug, it’s unconditional love. He doesn’t know any different. He doesn’t know the stress in this world or the evil. He just wants to love and be loved.”
“You can have a really stressful day at work, and he gives you one of those hugs, it all goes away,” said Dave. “As soon as he gets to know someone, he just wants to hug them. That’s actually pretty cool.”
The Mark family discovered something was wrong when Maverick was about 16 months old. He was missing developmental milestones and the pediatrician recommended tests. At first he was misdiagnosed with cerebral palsy but then was diagnosed with Angelman Syndrome.
“Unless some miracle happens, he is a child for life really. He’s not going to grow up and go to college,” said Dave.
But they hope for a cure.
“They cured it in mice but since it is so rare, there’s no research funding really from the government. It’s mostly donation driven and fundraising activities and it’s sad because there could be a cure,” said Kim.
“Most don’t even know of it,” said Dave.
“It’s 1 in 15,000, just a random occurrence really,” said Kim. “He’s that one.”
When asked about the challenges, at the top of the list was stress and exhaustion because Maverick is constantly on the move and requires full attention. Other challenges are his lack of fear and his fascination with water.
“He doesn’t know fear,” said Dave. “We have to be real careful.”
Completing a task is also difficult for Maverick.
“It’s slow processing,” said Kim. “Even if his brain gets it and knows, his body is not letting him do it.”
Kim said caring for Maverick is a family effort, including help from his sisters Madison, 21; Logan, 12; Mya, 10, and Brielle, 6.
“The girls are a huge help,” said Dave. “We have this pact where we all take turns because he’s go, go, go.”
This was evident as throughout the interview Maverick was constantly on the move, eating, playing, climbing, walking, and without even speaking to one another, each family member was there by Maverick’s side helping him, watching him.
“It’s constantly running around, it’s stressful, it’s challenging, it’s exhausting,” said Kim.
Dave and Kim both work full time while managing a busy schedule at home. Maverick receives various therapies several times a week, including occupational therapy, horse back therapy, and speech therapy, and he goes to preschool at Berks County Intermediate Unit in Fleetwood, where he has a one-on-one aide.
When asked what or who has helped her most, Kim said her support group.
“They understand. Unless you’re living it, it’s very hard to understand,” said Kim. “It’s tough because we hear people complain about silly things. Try dealing with a child that can’t talk.”
“We don’t know if he’s not feeling well. He can’t tell you if he has a stomach ache,” said Dave.
The Mark family also finds support from other families of Angels. They go to picnics and participate in the Angelman Syndrome Foundation Walk.
They also wanted to send a message to families of children with special needs.
“You can do it. It’s a lot of work. It’s tough. It never ends. You’re going to be tired but you can do it,” said Dave, offering advice.
“The stress is just insurmountable sometimes and exhausting but I think these kids are amazing, they’re more resilient,” said Kim. “They’re like, it is what it is, Mom.”
Wanting to help fund a cure, Maverick’s sisters held a bake sale benefit for research during their neighborhood yard sale.
“The main thing is never give up hope,” said Kim. “We’ve realized that you just hope for good things to happen and good people to come into your life.”
At one point, Kim became emotional during the interview, and Maverick, sitting next to her on the couch, or more like bouncing, gave her hugs and kisses that made her laugh.
“It’s an emotional roller coaster but we’re so blessed to have him,” said Kim.
For more information about Angelman Syndrome or to help find a cure, visit Foundation for Angelman Syndrome Therapeutics at cureangelman.org and Angelman Syndrome Foundation, angelman.org.