Vibrant and active Elle Ciavarelli, of Kirtland, Ohio, is a perfect example of how skull abnormalities don’t slow down a child or define one.
When Elle was 2 months old her pediatrician and parents noticed her head wasn’t growing at the recommended pace.
“Our pediatrician sent us to a geneticist, who then recommended we see a neurologist for testing. A CAT scan revealed her sutures were fused…she had craniosynostosis,” said Lori Ciavarelli, Elle’s mom. “With this news we started asking all of Elle’s doctors for opinions on what we could do, but they all kept coming back with the same conclusion. Do nothing.”
About 1 in 2,500 babies are born with craniosynostosis, in which one or more of the joints between the bones of a baby’s skull close too early, causing problems with brain growth, skull growth and shape. A skull consists of several bones that fit together like a jigsaw puzzle and, as an infant grows over time, the sutures close to form a solid piece of bone or skull.
Not convinced ‘do nothing’ was the best approach for Elle, Lori started asking questions, looking for options and searching for viable children’s hospitals that could care for Elle.
A week before she was scheduled to take Elle to Boston Children’s for a third opinion, Lori reached out to a childhood friend – Carrie Gavriloff, administrative director of Akron Children’s Hospital’s NeuroDevelopmental Science Center.
“I sent Carrie a message explaining our situation to see if she knew of anyone who could evaluate Elle,” Lori said. “We got an appointment with Dr. Tsulee Chen (director of neurosurgery at Akron Children’s), who said she wanted to monitor Elle’s growth for 3 months before she would talk to us about surgery. She was the first to mention surgery as an option.”
Three months later, Elle’s head wasn’t growing – and coupled with concerns of delays in milestones – surgery was offered.
Dr. Ananth Murthy, director of Akron Children’s plastic and reconstructive surgery center, and Dr. Chen performed a reconstructive and expansion surgery on Elle’s skull.
“We were so happy progress was being made,” said Lori. “We moved all of Elle’s care, everything, to Akron Children’s.”
But, even after surgery, Elle’s skull still wasn’t growing.
At age 4, Dr. Murthy and Dr. Chen performed another reconstructive surgery on the front of her skull. The procedure – front orbital advancement – involved making a zig-zag incision ear to ear and therapy after the surgery.
Since Elle’s expansion surgeries left her with skull defects that needed to be filled in, Elle’s next surgery included taking out 4 of her rib bones and placing them in her skull to help fill the space or soft spots between the bones.
Now, several months after the surgery, Elle is doing great and able to play as a typical 6 year old does.
“She wears a helmet while playing soccer but, other than that, she has no other restrictions,” said Lori. “We have 6 months without a doctor’s appointment so we’re happy and enjoying the time away for now.”
Craniosynostosis is just one type of craniofacial anomalies, a diverse group of deformities in the growth of the head and facial bones.
For kids with these conditions, they often undergo several, grueling surgeries, which can include bone extraction, plates and screws to reconstruct the shape of their head and facial features to aid in growth and function.
“We’ve been fortunate with Elle because she hasn’t been bullied about scars or anything,” Lori said, “but I think some kids have a harder time, which is unfortunate.”
For Elle, she’s accepted her condition and doesn’t let it hold her back.
“Elle doesn’t get upset about seeing her doctors because she knows they’re going to help her feel better and allow her to do the things she enjoys,” Lori said.