Lander child one of just over 1,000 in the world living with rare disorder

Six-year-old Rylan King, of Lander, loves princesses and babies.

She’s transitioning to Kindergarten, and she is still, as a June 3, 2017 Times Observer article about her made clear, “happy, bubbly, and full of life.”

Rylan’s family — her mother Naka, father Nick, and brother Bryer — is one of just over 1,000 in the world living with Dup15q. The genetic disorder is caused by a duplication of genetic material chromosome 15. It’s a random disorder that is unrelated to environmental or lifestyle factors. It’s not an inherited disorder, meaning that at some point during parental development, reproductive cells simply changed during their formation.

The Dup15q Syndrome is diagnosed using a variety of factors. Those with Dup15q may exhibit some, all, or only a few of the potential components of the disorder, which include: hypotonia (poor muscle tone); facial features such as flat nasal bridges or deep-set eyes, high palates, and sometimes differences in skin pigmentation; inhibited growth or small stature; differences in heart, liver, or kidney formation; fine motor, cognitive, speech and language, developmental, behavioral, and sensory processing delays; and higher rates of diagnosis on the autism spectrum. Attention deficit, anxiety, and seizure disorders are also more common with Dup15q.

And while living with a rare disease has absolutely affected their lives, said Naka, being able to network with other families affected by Dup15q at last year’s Dup15q Alliance conference in Los Angeles was immensely helpful. Not only was the ability to talk to other families who could empathize with the Kings a game changer, said Naka, but being able to look at other people who have the disorder and get an idea for what Rylan’s future might hold was an intense comfort.

Because the outcomes for each person with Dup15q are so highly individualized, it’s hard to tell what Rylan’s life will look like in years to come. But one thing that Naka said she was able to gain from the conference was the reinforcement in her conviction that “she’s never going to be defined by her diagnosis on paper.”

The diagnosis, which came in Dec. of 2014, was not a negative, Naka said. Instead, it allowed them to put a name to, and a reason for, the delays that Rylan had been exhibiting into her first year of life. The diagnosis, she said, was a relief. Because with it came the opportunity to learn, to reach out, and to understand Rylan more completely.

The ability to see her own family’s struggle in the other families who are a part of the Dup15q Alliance, said Naka, gave them an opportunity to “fit.” And that knowledge – that someone else understands precisely what you’re experiencing – is intensely comforting.

Part of what Naka said she had to learn through the process of getting Rylan diagnosed, and accepting that diagnosis, was that her previous expectations for her child were not realistic. She had to give herself permission, she said, “to grieve, to get angry.” That process, she said, can be isolating when it’s because of a disorder or a situation that others have often never even heard of. And it continues, said Naka.

Now, with Rylan getting ready to transition into Kindergarten, her family is again seeing the gap between her chronological and her developmental age being highlighted, just in new ways. While Rylan’s progress has been going “really well,” Naka said, there is still the need for a classroom tailored to meet Rylan’s needs and fit her abilities.

“She’s learning a lot more self-care skills,” said Naka. “She’s a little more verbal in making her wants and needs known. And she’s interacting more with her peers.” Rylan has developed an increased skill at reaching out to the classmates in her preschool classroom and is developing socially in great ways.

Still, there are challenges for Rylan that parents of neurotypical six-year-olds may not think about. Rylan is easily overstimulated by busy, noisy, bright, or changing environments. Just being able to take Rylan into a grocery store for bread and milk can result in sensory meltdowns on a bad day, Naka said. While Rylan has the body of a six-year-old, she’s developmentally at about the same place as her two-year-old brother. So people often wonder, said Naka, why it appears that she’s treating them the same, and having the same expectations for both children who appear so different age-wise.

“You don’t know what a family is dealing with,” said Naka of the tendency to judge parenting based on short interactions seen out of context or in passing. It’s a normal enough behavior, and one that Naka said she engaged in before having children too. People do tend to jump to the “if that were my child,” narrative when they see a family struggling with a behavior issue or parenting their children in what might be age-inappropriate ways for neurotypical children. “Everyone’s story is different. When you see something that’s not expected,” said Naka, “You can’t judge based on behavior.”

And to parents who live with developmental or behavioral differences in their children, Naka said, “we are all so hard on ourselves.” But she wants other parents struggling as she is to know that “we shouldn’t be.” More than anything, Naka said she wants people to know what the experience of living with a rare disease can be like.

It can feel isolating to have people not understand your situation, or assume that what they’re seeing is because of some failure in parenting or behavior. “People should ask questions,” she said. Raising awareness “is how we get help for our kids, and acceptance.” She said that like most people who have a unique situation, she’d like to do what she can to help raise awareness. One thing that she said people may not realize is that, when you have a rare disease, you may feel like you’re constantly explaining it.

Even taking Rylan to a new doctor who may not understand why she’s not responding at the level of her same-age peers, or the well-meaning stranger at the grocery store who doesn’t understand why Rylan’s not responding to their interactions as they would expect, can be an extra level of energy expenditure in what, for parents of neurotypical children, may be just another mindless errand.

For those who have friends or family with rare disease, Naka said, “be aware. Be supportive.” When a child has unique needs above and beyond a typical child, even finding an appropriate babysitter willing to take on the extra responsibility of caring for that child can be a barrier. “There are times when we have to tell our friends that yes, we would love to go out, but we can’t get a sitter. But we tell them to keep asking. Just keep asking. Because we want to be included.”

And for anyone who knows someone with a rare disease, said Naka, “we’re not invisible. Our children aren’t invisible. Ask us questions. But don’t make us feel invisible. Don’t make our children feel invisible.”

Multiple local organizations observing Rare Disease Day, which is Wednesday, Feb. 28, will be raising funds for the Dup15q Alliance, which Naka said is an organization whose work and research toward Dup15q has positive consequences for many other disorders as well, including seizure disorders and autism. “The more we know about Dup15q,” said Naka, “the more we know about these other issues as well.” Family Services of Warren County will be raising funds through online donations to the Dup15q Alliance. Donations can be made by visiting dup15q.org/warren. Premier Designs vendor Laura Wertz will also be hosting a demonstration at New Beginnings restaurant in Sugar Grove on Wednesday, Feb. 21 from 6 to 9:30 p.m. with 100 percent of proceeds going to the Dup15q Alliance in Rylan’s name. Anyone interested in participating in the event but unable to make it to the demonstration can order online at premierdesigns.com/laurawertz.

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