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STILWELL, KS (KCTV) – "Everything is fine, everything is normal." That's what the Stilwell family has heard over and over again about their daughter.
But all was not normal and basically, they knew it. It was just a question of finding the right test to safeguard their intuition.
Elliana Henry, 3, is as valuable as possible. But in recent years have been confusing for this sweet girl, especially for her parents.
"At four months, we knew something was wrong at Ellie's, so we wanted answers to understand what was going on," said Michelle Henry, mother of Ellie.
Ellie's pediatrician and several other specialists were categorical: she was fine.
"They did a series of tests and they all came back clear," said Henry.
But his mother knew better. Henry noticed that things were going well with Ellie.
"Yeah, so at four months she would not hit the objects anymore, but I'd lay her on her little play mat and they're supposed to fight, they would not do anything," Henry said.
Her parents called Ellie a squish ball because she did not move much and they noticed that even at an age when she should be able to support herself, they still had to manage her like a newborn baby.
She was not growing at the same pace as her older brother Jayce. The Henry were finally referred to the Children's Mercy Development Department where they had to wait eight long months to enter.
"So, it was rather devastating because I was as though I had done my part as a parent and now I have to wait," said Henry.
More tests have not given anything.
"We thought we never knew what was happening, which caused the delays and my life was spent researching what it could be," Henry said.
Henry's research takes her back to Children's Mercy where she contacts a genetic counselor. A blood test finally gave them the answers they were looking for.
"It was the DDX3X, it mainly affects girls," said Henry.
DDX3X is a gene mutation that can cause developmental delays, sometimes severe, as well as other physical symptoms such as scoliosis. It is an incredibly rare syndrome. Ellie was one of 200 diagnosed children in the world.
"Ellie's story is special in that her gene was only characterized in 2015. If we had done exactly the same test on her in 2014, the test would have been negative or nondiagnostic and we would not have not got an answer. So it was the worst nightmare this family had to do another test for not having an answer, "said Susan Hughes, genetic counselor at Children's Mercy.
It's Hughes who called the family to tell them exactly what Ellie had. She said the Hughes are fortunate that the Ellie gene mutation was discovered a few years ago, as only 30% to 40% of patients in their clinics get answers to their medical mysteries.
"Genetics is an evolving field, I've been practicing it for almost 10 years and the tests we ordered when I was out of school, we do not even order anymore, it's already obsolete," said Hughes.
The good news is that, given the rapidly changing situation, patients who do not get answers can often come back in one, two or three years and find out much more about their condition.
Armed with new knowledge, the Henry found their strength with Ellie's diagnosis. Children's Mercy counselors even put them in touch with other DDX3X families on Facebook.
"So, I reached out and that night we spent hours exchanging messages. I had the impression of finding a long lost sister, a person who knew and finally understood what we had gone through, "Henry said.
There is no doubt that genetics have come a long way in recent years.
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