Family talks about life with their 'Kool' son to raise awareness of genetic disorder

Like most 9-year-old boys, Davis Point loves to talk about Marvel superheroes.

Much of his occupational therapy sessions are devoted to the discussion of comics.

Davis was diagnosed with Koolen-de Vries Syndrome, also known by the acronym KDVS, in early 2016. He was 16 months old. The disease is caused by a genetic mutation and affects an estimated 1 in 30,000 people.

Dana Point, Davis’ father, explained that like autism, KDVS has a spectrum. Symptoms and their intensity vary, but some common ones are heart defects, dental abnormalities, developmental delays, low muscle tone, speech issues, and seizures.

Davis’ mother, Ashley Point, recalled Davis was diagnosed after spending “a lot of time in the hospital” for respiratory infections and missing milestones. Genetic testing revealed KDVS. Since the diagnosis, Ashley and Dana are working with a team of doctors and physical therapists to manage Davis’ symptoms.

“He requires specialty services that aren’t available locally,” Dana explained.

As they have grappled with the diagnosis and all it means, the family has also found support. Ashley currently serves as president of the KDVS Foundation’s Board of Directors, and she and Dana founded a nonprofit organization called My Kool Brother to raise funds for KDVS research and treatment.

Ashley is also a member of Global Genes, a nonprofit organization that supports patients with rare diseases and their families worldwide. A couple of years ago, the organization approached her about an opportunity.

“They said, ‘Oh, we want to create this storytelling thing, and we’ll work with you, and we’ll give you the resources to do it. You’ll just need your iPhone,’ and I was like, ‘Okay, I will try this,’” Ashley recalled.

Ashley mentioned the project to Dana’s cousin who has a production company. Her initial request for a bit of advice led to a crew coming to Wilmington to film the family and create a short documentary film about Davis and his condition.

Titled “Davis Out of the Unknown,” the film discusses the diagnosis and offers glimpses into what life is like for him and his family. Ashley and Dana were pleased with the results.

“They were amazing,” Ashley said of the production team. “They were these young professionals right out of college and they told the story in a way that we would have never been able to tell it.”

At this time, there is no cure for KDVS. The family hopes that by sharing their story and the documentary, they can raise awareness about the disease and fund research to find treatments and, ultimately, a cure to help Davis and others affected by it.

“I think it’s good for people to just recognize that it’s there,” Ashley said. “It’s one of 10,000 rare diseases, and we’re just trying to raise awareness so that people know what Koolen-de Vries Syndrome is and can keep an eye out for it.”