STILWELL, KS (KCTV) – "Everything is fine, everything is normal." That's what a Stilwell family often heard 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 possible. But it has been confusing few years for this sweet girl, especially for her parents.
"By four months old, we knew something was a little off with Ellie, so we wanted answers to find out what was going on" Michelle Henry, mother of Ellie said.
Ellie's pediatricians and several other specialists were adamant she was fine.
"They ran a lot of tests and they all came back," Henry said.
But her mother knew best. Henry noticed things were right with Ellie.
"Yes, for four months she didn't hit things, it was great, I would put her on her little toy, and they should bathe them, she just didn't want to do anything," 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, she still had to deal with her as a newborn.
She did not go at the same rate as big brother Jayce did. Henry's was finally referred to the Children's Mercy's Development Department, where they had to wait eight long months to enter.
"So it was a little devastating because I was like I did my part as a parent, and now I have to wait, said Henry.
Several tests showed nothing.
" We thought we might never Could know what was going on, what caused the delays and my life was used to investigate what it might be, "Henry said.
Henry's research brought her back to Mercy, where she came in contact with a genetic counselor. A blood sample finally gave them the answers they had been looking for.
"It was the DDX3X, it affects most girls," Henry said.
DDX3X is a gene mutation that can cause developmental delays, sometimes severe with other physical Symptoms such as scoliosis. It is an incredibly rare syndrome. Ellie was one of only 200 children diagnosed worldwide.
"Ellie's story is special because the gene was only characterized in 201
Hughes is the one who called the family to tell them exactly what Ellie had, She said Hughes is lucky Ellie's gene mutation had been discovered a few years ago because only about 30% to 40% of their clinical patients get answers to their medical mysteries.
"Genetics is a rapidly evolving field, I've been doing it almost ten years and the test we ordered when I came out of school, we didn't even order any more, it's already outdated, "Hughes said.
The good news is that because it changes so Quickly, patients who have no response can many times come back in one, two or three years, and much more can be known about their condition.
Armed with new knowledge, Henry's strength with Ellie's diagnosis was found. put them in the ass act with other DDX3X families on Facebook.
"So I got out and the night we spent hours of messaging back and forth. I felt I had found a far lost sister, someone who finally knew and understood what we had gone through," Henry said.
There is no doubt that genetics has come a long way in recent years.
KCTV5.com is now with you on the go! Get the latest news updates and video, StormTrack5 weather forecast, weather radar, special survey reports, sports headlines and much more from KCTV5 News.
>> Click here to download our free mobile app . <<
Copyright 2019 KCTV (Meredith Corp.) All rights reserved.