Finding out their child is sick is every parent’s nightmare, and that’s made even worse when the disease is rare.

Tara and Jason Hackwelder went through that when their daughter, Elizabeth, was diagnosed with Zhu-Tokita-Takenouchi-Kim syndrome, caused by a medical mutation of the SON gene.

When they got the news, Elizabeth was one of the very first in the world diagnosed with the syndrome. She was experiencing developmental delays, but the doctors weren’t able to explain why.

“She did genetic testing and we got a call that she had a mutation that was identified as a brand new syndrome,” Tara Hackwelder said. “We were asked about letting the details be featured in a research article. You never wanna hear is something very rare, but any answer helps.”

In the wake of that, the family star

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