WAYNE COUNTY, Ky. (LEX NEWS) — When Nikki Shearer's oldest daughter, Harper, was born at 28 weeks, doctors believed her developmental delays were the result of cerebral palsy. Then came her second daughter, Haisley, with similar delays and the same diagnosis.
"We saw that her developmental delays were there. They were like, you know, this is, this is rare and a coincidence, but like they both have cerebral palsy. We're like, what? Like there's no way." Shearer said.
After extensive testing found no answers, doctors told Shearer and her husband it was safe to have another child. Their youngest daughter, Hope, had a normal birth. But at two months old, Shearer knew something was wrong.
"Hope is 3, she's our youngest. She had a normal birth. Then at two months old, I was like, there's something, there's something wrong," Shearer said.
After Haisley was taken to Cincinnati Children's Hospital, the family finally got the answer they had been searching for.
"The day after Christmas 2023, we found out the diagnosis of TBCK. It was a gut punch but at the same time, we needed that answer," Shearer said.
TBCK is an extraordinarily rare genetic condition. Dr. Dustin Wells of Wayne County Hospital said there are only approximately 170 confirmed cases in the world.
"It's roughly 1 in a million, maybe, maybe even less likely than that," Wells said.
Having three cases of the condition in a single family, in a small community, is something Wells said is almost unheard of.
"It's exceedingly rare that you would have 3 cases of this in a small community, and so from our standpoint, it's just, it's difficult to manage from a neurologic approach, with these kids. It's just a very challenging thing," Wells said.
The condition has serious medical implications. Wells described how it affects the girls' development, communication and motor function, and what happens when they need emergency care.
"It affects development. It affects their ability to talk and function, motor function. And when they come into our ER, oftentimes they're very sick. They'll have increased seizures, frequent seizures, epileptic type episodes," Wells said.
Shearer said the relationship with Wayne County Hospital has been critical to her daughters' care. If one of the girls is on her way to the hospital, the family calls ahead and the emergency room staff already knows exactly what to do.
Now, the Shearers are channeling their experience into a larger mission. Hope's Make-A-Wish isn't about a trip or a toy. It's about helping other families find the answers the Shearers spent years searching for.
"There are thousands of kids missing on this list of TBCK warriors, or being misdiagnosed, or let's say dying at birth and no one knows why," Shearer said.
The life expectancy for children with TBCK makes every day precious.
"With the life expectancy of TBCK it's the average age is 12, so we try for our girls to live every day as their best day because we don't know when the last day will be," Shearer said.
But through it all, the girls' joy has never wavered.
"They are loving girls. They wake up so happy," Shearer said.
You can find the link to their GoFundMe here, and their Facebook here.
