A family’s resolve to create awareness and find a cure

For the first eight weeks of her life, Carly Chandler was a typical baby sister to Colton Chandler. She had 10 fingers, 10 toes and face that melted her parents’ hearts.

Then her seizures began, sometimes 10 to 12 times per day.

Her diagnosis was something neither her pediatrician nor pediatric neurologist had ever heard of.

CDKL5, an acronym for the “cyclin-dependent kinase-like 5” gene, has become the calling card for a disorder that affects fewer than 700 children across the world.

It is a gene recent research suggests is essential to brain function. Unfortunately, the minimal research on the gene reveals more questions than answers.

After an agonizing year of invasive tests and continuous negative results, the diagnosis of CDKL5 was delivered a week before Carly’s first birthday. A frame-shift mutation within the gene revealed Carly might never be a typical healthy child.

To Carly’s parents, Inverness residents Amy and Dustin, she’s one of the lucky ones. Frequently in cases like Carly’s, children aren’t diagnosed until ages 6-22.

These wildly sporadic diagnoses inspired the Chandlers to start KNOW5, a CDKL5 awareness campaign targeted toward the greater Birmingham area.

The tag line of the campaign reads: “If you know five people, tell them.”

“We want to help other people that don’t have the diagnosis yet,” Dustin said. “I honestly believe that’s our purpose as a family. And her purpose as a child is touching other’ lives and bringing out awareness to not only for CDKL5 but also rare diseases in general.”

Funds raised from the KNOW5 campaign will go to research, awareness and helping affected families, they said.

“I see us as the underdogs, and my daughter is an underdog in this whole fight,” Dustin said. “Well, guess what. I’m up for the fight, and so is she, and we’re going to pump this thing until we can’t anymore. It’s fight till the end for me.”

The Chandlers’ daily motivation is Carly. Her seizures occur about once per day, but she is legally blind and might never walk.

But it won’t be for lack of trying.

As parents, Dustin and Amy knew they had two choices: either accept her diagnosis and simply hope for the best, or be active in getting her all the therapies and help available.

Amy and Carly attend therapy five times a week at the Bell Center. There, she receives physical, occupational and speech therapy. At Children’s of Alabama, she receives outpatient and private therapy, and she attends swim therapy at The Lakeshore Foundation, which Amy said Carly enjoys the most.

“We want her to have a chance to excel in any aspect,” Dustin said. “More than likely, she’s not going to walk, talk and feed herself, but is that going to make us stop and not try to help her walk, talk and feed herself? No. That was the decision we made early on.”

Carly’s progress has been slow. She now eats solid foods and can hold her head up for a while. Her parents said they are encouraged every day by what they see. Until research discovers a cure, the Chandlers are prepared for the uphill battle.

Now that the KNOW5 campaign is a part of their daily routine, the Chandlers are even further committed to finding the answers they need.

For more on CDKL5, visit cdkl5.com.