Pediatric Therapy Stories: Living with Rett Syndrome

Our Story: "The Big Deal" Documents Family Living with Rett Syndrome
By Hannah Withers

“Just before her first birthday we started noticing that Zoe wasn’t reaching the milestones,” said Mike Prask of his daughter, Zoe. “We have an older daughter, and we weren’t comparing the two because every child is different… but we knew at some point that Zoe wasn’t where she needed to be in terms of crawling or talking. If we held out our fingers for her, she would reach out but couldn’t grab them. She wasn’t attempting to pull herself up to stand. We knew something was going on.”

At twenty months old, Zoe Prask was diagnosed with Rett Syndrome, a neurological disorder that affects roughly one in ten thousand children, mostly girls. Rett Syndrome is caused by the spontaneous mutation of an X chromosome during its development. Because it is a spontaneous mutation, Rett is seen equally in all nationalities or ethnicities. It can happen to any family.

The mutation stops the production of a single protein. “The effects of that mutation can vary from girl to girl, which is one of the amazing things about the disorder,” Mike commented. “The majority of children with Rett develop normally until they’re about eighteen months to two years old, at which point they start to lose skills they’ve already developed, like walking or talking. In Zoe’s case, she never developed those skills to begin with.”

Even before her diagnosis, Zoe was receiving developmental and physical therapies. At about eighteen months, Zoe started seeing clinicians Jennie Marble M.A. CCC-SLP, Lauren Rowand M.S. OTR/L, and Meredith White M.S. at JCFS’s Integrated Pediatric Therapies.

“Jennie has been working with Zoe on her feeding skills,” Mike said. “A hallmark of Rett Syndrome is a lack of motor planning. The brain function and intention is there, but even for tasks like eating, the follow-through is difficult. Zoe had very low muscle tone and tongue strength, and so Jennie has really been working on that with her.”

And developmental therapy with Meredith came with its own surprises. “Meredith really opened our eyes to Zoe’s cognitive abilities. They were working with flash cards, identifying numbers, shapes, colors. And after only a couple of sessions, Zoe was selecting the cards with almost perfect accuracy. She understood way more of those concepts then we ever expected—we’d taken it for granted.”

Now at almost five years old, Zoe is still working to build and develop her abilities. She still isn’t talking, and she may never, but she’s continuing her physical and developmental therapies and slowly improving. “All of her improvements have been gradual, and they’ve taken a lot of work,” added Mike.

Mike has been busy too, in the midst of all this. “I’ve always enjoyed writing,” he said, “and over the course of the year after Zoe was diagnosed, I was just jotting down thoughts and observations on everything that was happening. After a while I took all the bits and pieces together and tried to see if I could form a coherent essay out of it all. I started sending it around to friends—I just wanted to share it. Everyone really liked, but no one knew just what to do with it.”

What resulted was “The Big Deal,” an eBook memoir on the Prask family’s experience living with Rett Syndrome. “The Big Deal” is currently for sale as a Kindle Book at Amazon, as well as for the NOOK through Barnes and Noble, with all the proceeds going directly to the Rett Syndrome Research Trust.

“We’ve sold just over 100 copies,” Mike estimated. “We’ve had a really great reception within the Rett community, but I’ve been keeping one eye on that Amazon sales ranking, hoping we can break through to larger groups of people.”

“I really want to highlight the research being done on this condition,” Mike said, pinpointing what he most wants his readership to take away from “The Big Deal.” “It’s particularly tantalizing to scientists because they know exactly what causes this syndrome, and it is poised to be the first neurological disorder to be reversed. Their research on Rett has implications for a lot of other similar conditions as well.”

“Most of all, though, I want to make sure that people understand that Zoe and all these other girls are just normal kids. As a parent you want to see them doing all the things that the kids around them are doing, and sometimes they can’t. But that doesn’t make them want to do those things any less. They should still get the chance to be a kid.”

Connect with the Prasks and The Big Deal on Facebook.

For more information about Integrated Pediatric Therapies, or any other programs at JCFS Chicago, visit us at jcfs.org or call, toll-free, 1.855.ASK.JCFS.