CHARLOTTE, N.C. — Feb. 15 marks International Angelman Day, dedicated to raising awareness of a rare genetic disorder that affects one in 15,000 people worldwide. The disorder affects chromosome 15, causing intellectual and developmental delays.

One Charlotte family is advocating for more research into the often-misdiagnosed disorder.

What You Need To Know

  •  International Angelman Day is Feb. 15 

  •  Angelman syndrome affects one in 15,000 people

  •  The Angelman Syndrome Walk will be held in Charlotte May 18 

When you take a look at John and Violet Berry Heindel, it’s impossible not to smile. The two siblings are always on the move, but at first glance you would not be able to tell that they are angels.

“One major characteristic is they're very smiley. They're very curious and very persistent. John and Violet like to make sure that everybody they see smiles, everybody they pass they want to get a smile from them,” said Imogene Berry, the siblings' mother.

John and Violet have a rare genetic neurological disorder known as Angelman syndrome, but their mutation type is found in only 10% of cases, making it even more difficult to diagnose.

“It was pretty hard, we didn't really have a diagnosis day like a lot of families do because mutation doesn't get diagnosed on the first genetic test. It takes a couple of rounds, and so it was several months of well, we're not sure if it's this or not sure if it's that,” Berry said.

Because of the syndrome, John and Violet communicate in their own ways, using boards with images.

“We started with these boards, and because Angelman kids have difficulty with motor control cycling — they can't really control their hands as well to make all of the shapes of sign language. So touching a button is much simpler. So we have these communication boards and Violet knows go, stop, milk, more,” Berry said.

Milestones for families of those with Angelman syndrome are also celebrated a little differently.

“When you find out a diagnosis like this, there's always the grief cycle. You know, you go through all the emotions, anger, sadness, bargaining, denial," Berry said. "But I think we've settled into a real joy when when he achieves things, you know, there's a lot of joy in him achieving certain milestones.” 

Angelman syndrome has no cure, but therapies and the possibilities of clinical trials are what keep John and Violet thriving.

“The hope that a treatment or a cure will be developed very soon for Angelman syndrome, and that we won't live with the finality of this syndrome, that there will be opportunities for them to grow and improve and to develop beyond what the doctors say they're capable of,” Berry said.

The Angelman Syndrome Foundation will be hosting a walk May 18 to raise awareness of the disorder. To find out more, visit the website here.