SALISBURY — When Maggie Derby was born, she seemed like a healthy infant, but after some screenings when she was a few months old, doctors discovered something was wrong.

Maggie has a rare genetic disorder caused by a CASK mutation.

“It’s really rare,” Blythe Derby, her mother, said.

CASK-related disorders were only discovered a couple of decades ago. Blythe said that there are less than 300 such cases worldwide.

“When she was born, she had a screening,” Blythe said. “Through the process of going through hearing testing, she had an MRI, and we realized her brain was underdeveloped.”

Blythe said that her cerebellum is almost non-existent.

Symptoms of the condition can vary.

“There have been a lot of people living with a CASK-gene disorder and had no idea,” Blythe said. “Others had been diagnosed with autism. It can be pretty mild.”

Blythe described Maggie’s condition as on the moderate to severe side.

“She is pretty affected,” Blythe said.

Maggie is non-verbal. She cannot sit independently or crawl despite being 2.5 years old.

“She has hearing loss and vision loss,” Blythe said. “She also has epilepsy. Epilepsy has been one of the biggest things that have impacted her. It can cause regression and slow down the progress that she is making.”

Blythe and her husband, Chris, have lived in Salisbury for several years. They envisioned having a big family with three or four children but no longer consider that a possibility for fear of passing on the genetic trait to another child. Taking care of Maggie has also become a full-time job. Blythe left her career in Charlotte to be a full-time caretaker for Maggie.

“In the beginning, we did not know what we were getting into,” Blythe said. “Once we got her diagnosis, we knew this was going to be a lifelong thing.”

The Derbys have hope that Maggie will be able to sit independently and one day walk with assistance. She is non-verbal, so the couple are in the process of acquiring an eye-gaze communication device to make communication possible.

“The goal is to make her as happy and independent as we can,” Blythe said. “It’s small things. Anything we can do to give her independence, a chance to play and do things as much as she possibly can.”

Therapies are available to treat Maggie’s condition. However, Medicaid only covers physical and occupational therapy. The Derbys have explored intensive therapy sessions, which can last for several weeks and cost thousands of dollars.

“The best way to see progress is intensive therapy; unfortunately, those are not covered,” Blythe said. “It’s a lot of work over a short period of time to make those strides, and the younger they are, the more effective that it is. The sooner you start on things like that, the better the outcome.

“As a child, you learn the most during your first five years of life. The more we can do before she turns five, the better chance she has of being able to do things when she is older.”

While the trade-off is costly, the Derbys are willing to do whatever it takes to ensure Maggie lives a semblance of an independent life, but even the best intentions sometimes require a little help from your friends.

Last Saturday, Salisbury community members gathered at Maggie’s grandma’s house for a chili cook-off fundraiser.

On the Facebook page, Maggie Kicking CASK, Blythe posted that the event raised $5,000. Combined with shirt sales, they were able to raise $7,000.

“Our support system and community are truly incredible,” Blythe said.

The assistance will go a long way to helping pay for the intensive therapy sessions. They are planning to attend an upcoming one in Raleigh.

A previous session in Virginia lasted four weeks and was made possible by a different fundraiser last year.

Thankfully, Maggie’s Medicaid waiver will help fund needed modifications to the Derbys’ vehicle and home, but those sessions will remain out of pocket.

“We have been very fortunate to be in the community in Salisbury,” Blythe said.

Blythe is optimistic that her efforts and those of her community will enable Maggie to eventually be able to attend daycare and become a familiar face around Salisbury.

“My biggest thing is yes, we want to raise funds, but we also want to raise awareness for her and her disorder,” Blythe said. “If it is not seen, you might not realize the struggles people go through. It can be something as simple as getting a wheelchair in and out of a store.

“The world was not set up for growing disabled people.”

While day-to-day infrastructure might not be lacking, there is no shortage of need for people like Maggie.

“She is pure joy,” Blythe said. “Her smile and her laugh are literally the best … she loves lights, colors and music. She is cognitively delayed, but we are slowly learning that she has a lot more in there than she can verbalize. She has a lot of understanding of the things going on around her.”

All it takes is a little time with Maggie to see that while she may be different, the similarities outweigh those differences. To keep up with Maggie’s journey, follow Maggie Kicking CASK on Instagram or Facebook.