STILWELL, KS (KCTV) – "Everything is fine, everything is normal." That's what a Stilwell family kept hearing about their daughter.
But everything was not normal and deep inside, they knew it. The only thing was to find the right test to substantiate their guess.
The three-year-old Elliana Henry is as valuable as possible. But for this sweet girl, especially for her parents, it was a few confusing years.
"At four months, we knew something was wrong with Ellie, so we wanted answers to find out what was going on." Michelle Henry, mother of Ellie, said.
Ellie's pediatrician and several other specialists were sure she was fine.
"They did a series of tests and all came back clearly," Henry said.
But her mother knew best. Henry noticed that everything went wrong with Ellie.
"Yeah, when she was not banging on objects for four months, the big thing was, I put her on her little play mat and they were supposed to hit her. she just would not do anything, "said Henry.
Her parents called Ellie a pinch ball because she did not move much, and they realized that she could support herself even more at an age when she should be more supportive, still treating her like a newborn.
She did not make the same progress as her big brother Jayce. The Henry's were eventually directed to the Children's Development Department of Mercy, where they had to wait eight long months before they entered.
"So it was pretty devastating because I did my part as a parent and now I have to wait." We thought we never knew what was going on, what caused the delays and my life was spent exploring what It could possibly be, "Henry
Henry's researches led her back to Children's Mercy, where she contacted a genetic counselor. A blood test finally gave them the answers they were looking for.
"It was DDX3X, it mainly affects girls," Henry said.
DDX3X is a gene mutation that can cause developmental delays that are sometimes severe 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 in that her gene was not characterized until 201
Hughes was the one who called the family to inform them exactly what Ellie had. She said the Hughes were fortunate that Ellie's gene mutation had been discovered a few years ago, because only about 30% to 40% of their hospital patients received answers to their medical riddles when we did that for nearly ten years and the tests we ordered when we got off school, we do not even order anymore, it's already outdated, "Hughes said.
The good news is that they change so fast, patients who, if they do not get an answer, often come back in a year or two, and many more are known about their condition.
Armed with new knowledge, Henry's strength found in Ellie's diagnosis. Counselors at Children's Mercy even brought them into contact with other DDX3X families via Facebook.
I felt I had found a long-lost sister who finally knew and understood what we had been through, "Henry said.
Genetics has undoubtedly come a very long way in recent years.
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