After daughter's rare diagnosis, mom works to improve hospital responses

Posted at 7:07 PM, Dec 27, 2022
and last updated 2022-12-29 12:47:55-05

NASHVILLE, Tenn. (WTVF) — Imagine your child suffering a medical emergency, but it's handled incorrectly because of protocols. One Tennessee mom said it was her frightening reality. Today, she's helping make big changes in our state.

Mom Jackie Kancir said there are few things daughter Jadyne loves more than putting on some makeup and taking pictures.

"That's a lot of colors! Your whole face is like a rainbow," Jackie smiled, as 19-year-old Jadyne put on her makeup.

"When she was seven months old, she had her first seizure," Jackie said, referring to Jadyne.

At its worst, Jadyne was experiencing up to one hundred seizures in an hour.

"There's fear there," said Jackie. "There's confusion. When you're in that situation, you feel you're at the max at what you can handle, so what happens if it gets worse?"

After years of searching for answers, a diagnosis came from Vanderbilt in 2019.

"The results came back that Jadyne had a condition known as SYNGAP1, and that was our answer, finally," said Jackie. "The brain is very overreactive, so it's seizure activity, severe behaviors, mobility problems, and sleep disorders from the lack of SYNGAP protein. We currently know of 1,135 people in the world diagnosed with SYNGAP."

For more on SYNGAP1, visit here.

Another scary moment was still to come. Jadyne was acting very aggressively at a hospital and was being treated as a psychiatric patient. She wasn't psychiatric.

"What they kept telling us was, 'we have protocols,'" Jackie said. "All I could say was, 'I understand, but I promise you're going to have new ones.'"

It was the very next day that Jackie began writing to people, getting state agencies and more on board to create new protocols that are now part of the Vanderbilt toolkit and available to other hospitals.

"They are IDD Specific Emergency Department Stabilization Protocols," she said. "Now, when parents bring their children into Vanderbilt ER that have an intellectual disability, the doctors have guidelines of best practices to treat somebody who is in a medical crisis. We need to take sensory elements into consideration. Some patients might want the lights dimmed. Some patients might want soothing music. The hope is that the situation can de-escalate, so the patient can come home with their families."

It's been a journey for Jackie and Jadyne, good days and bad.

"It means it's not all for naught," Jackie said. "There was greater good that came out of those experiences. We're making progress because this community wants to. We want to help this population more."

To see the protocols, visit here.

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