STILWELL, KS (KCTV) — “Everything’s fine, everything’s normal.” That’s what a Stilwell family heard time and time again about their daughter.
But everything wasn’t normal and deep down, they knew it. It was just a matter of finding the right test to back up their hunch.
3-year-old Elliana Henry is as precious as can be. But it’s been a confusing few years for this sweet girl, especially for her parents.
“At four months old, we knew that something was a little off with Ellie, so we wanted answers to figure out what was going on,” Michelle Henry, mother of Ellie said.
Ellie’s pediatrician and several other specialists were adamant she was fine.
“They ran a bunch of tests and they all came back clear,” Henry said.
But her mother knew best. Henry noticed things were just off with Ellie.
“Yeah so at four months she wasn’t batting at objects was the big thing, I’d lay her on her little play mat and they’re supposed to bat at them, she just would not do a thing,” Henry said.
Her parents called Ellie a squish-ball because she didn’t move much, and they noticed that even at an age where she should be able to support herself more, they still had to handle her like a newborn.
She was not progressing at the same rate as big brother Jayce did. The Henry’s were finally referred to Children’s Mercy’s Developmental Department where they had to wait eight long months to get in.
“So, it was kind of devastating because I was like I did my part as a parent and now I have to wait,” Henry said.
More testing turned up nothing.
“We thought we might not ever know what was going on, what was causing the delays and my life was spent researching what it could possibly be,” Henry said.
Henry’s research led her back to Children’s Mercy where she got in touch with a genetic counselor. A blood test finally gave them the answers they’d been looking for.
“It was DDX3X, it effects mostly girls,” Henry said.
DDX3X is a gene mutation that can cause developmental delays, sometimes severe along with other physical symptoms like scoliosis. It is an incredibly rare syndrome. Ellie was one of only 200 children diagnosed worldwide.
“Ellie’s story is special in that her gene was only characterized in 2015. Had we run that exact same test on her in 2014, the test would’ve come back negative or non-diagnostic and we would not have had an answer. So that would’ve been that family’s worst nightmare of running another test to not have an answer,” Susan Hughes, a Genetic Counselor at Children’s Mercy, said.
Hughes is the one who made the call to the family to tell them exactly what Ellie had. She said the Hughes are lucky Ellie’s gene mutation had been discovered a few years before because only about 30% to 40% of their clinic patients get answers to their medical mysteries.
“Genetics is a rapidly evolving field, I’ve been doing this almost ten years and the testing we were ordering when I came out of school, we don’t even order anymore, it’s already obsolete,” Hughes said.
The good news is that because it’s changing so quickly, patients who don’t get answers can many times come back in one, two or three years and much more may be known about their condition.
Armed with new knowledge, the Henrys found strength with Ellie’s diagnosis. Counselors at Children’s Mercy even put them in touch with other DDX3X families on Facebook.
“So, I reached out and that night we spent hours messaging back and forth. I felt like I’d found a long-lost sister, somebody who finally knew and understood what we had gone through,” Henry said.
There is no question genetics have come a very long way in recent years.
DDX3X-Related Neurodevelopmental Disorder – Research Paper
Learn more via the paper here. GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial […]Continue Reading
Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease
Originally posted on STAT by Rebecca Robbins on February 3, 2020 SAN FRANCISCO — When Facebook founder Mark Zuckerberg and his spouse Dr. Priscilla Chan in 2016 vowed to get all diseases […]Continue Reading