Craniosynostosis: Heading in the right direction

craniosynostosis endoscopic
Credit: Rachel Larson Photography

When Ella Dorsey was born, her father Paul noticed something different about the shape of her skull. Her mother Cynthia, tired after the birth, assumed Ella’s head had gotten a little misshapen going through the birth canal, not an unusual thing to happen. But just before they were discharged, Cynthia noticed that a pediatrician she hadn’t yet met was paying particular attention to Ella’s head.

“She was holding the baby, touching her head, constantly going over the baby’s skull,” she remembers. “I finally said to her, ‘Is the baby OK?’”

That’s when Cynthia first heard the term craniosynostosis. She felt the bony ridge at the top of Ella’s head where the plates of her skull had fused together too early. Normally, these plates stay open into puberty to allow the brain room to grow, but in 1 of about 2,500 babies, the plates fuse together too early.

“I’m hysterically crying, shocked, still not knowing what this condition is,” Cynthia recounts. “As a parent, I’m thinking, ‘She’s going to have issues that will last a lifetime.’ I probably cried more than I cried in my entire life.”

The Dorseys were at Brigham and Women’s Hospital, which is connected by bridge to Boston Children’s Hospital. Two neurosurgical residents came across the bridge and spelled out Ella’s situation. She had sagittal craniosynostosis, the most common form in which the plates on the sides of the head fuse together at the top of the skull. This prevents the growing brain from expanding sideways, so it compensates by overexpanding front-to-back, giving the head a football-like shape. If Ella’s condition wasn’t fixed, it would affect her appearance, and pressure could build up inside her skull and cause serious neurologic complications.

Surgical options for craniosynostosis

Ella had two surgical options. The standard operation is fairly invasive: The scalp is cut open from ear to ear and the skull bones are moved into their proper positions. Since the scalp and skull bleed heavily, Ella would very likely need a blood transfusion, and she would need to spend three to four nights in the hospital.

Mark Proctor, MD, from Boston Children’s Department of Neurosurgery, crossed the bridge to see Ella at the end of the day and recommended a minimally invasive endoscopic procedure available at Boston Children’s and a handful of other hospitals. Making two 1-inch incisions, surgeons remove a finger-width strip of skull bone, reopening a space between the skull plates. It takes about 30 minutes, requires a one-night stay and has just a 5 percent transfusion rate.

“Dr. Proctor told me, ‘I’m going to take care of it, she’s going to be fine,'” says Cynthia. “I was a mess, but he was so calming.”

Ella would need to have the endoscopic surgery before 4 months of age, when her skull would still be pliable, and to give her brain maximum time to catch up on growth.

But she needed to gain weight to lessen her chances of needing a blood transfusion. “I need for her to get to 12 pounds,” Proctor told the Dorseys.

By her scheduled surgery date, Ella had only reached 10 pounds, so Proctor’s team waited two more weeks. When Ella finally arrived at pre-op, at 3 months old, she was just shy of 12 pounds.

After meeting with Proctor and his team, Cynthia turned a sleeping Ella over to the anesthesiologist and nurse. “It was scary because she was so little,” says Cynthia. “I had never met this nurse in my entire life. But I realized it was out of our hands. They made us feel like we were the only parents and the only patient there. We had complete trust.”

All went well, and Ella did not need a blood transfusion. The Dorseys left the hospital the next night, and Ella was laughing three days later. But that was just the beginning. To help her brain and head grow in the proper direction, Ella would need to wear a helmet, possibly until her first birthday.

“The second half of this procedure is the helmet, which is no fun,” says Cynthia. “It was ugly and horrible-smelling. I got hit in the face with it so many times.”

Ella built up to wearing the 1-pound helmet 23 hours a day. Unlike her parents, she quickly became unaware of it, and it pushed her skull in at the back and front, allowing her head to get wider.

When the helmet came off recently, just before her first birthday, Ella’s head looked like that of any other baby. “We say, ‘No more helmet!’ and she taps her head,” Cynthia says. “She understands the helmet’s gone.”

Some children with craniosynostosis get internal pressure in the skull and severe headaches. Some require second surgeries or eye surgery because of pressure on the brain, skull defects or eye muscle imbalance. And, rarely, some suffer cognitive impairment. But while Ella will be monitored, Proctor doesn’t expect her to have problems. “I feel Ella will be fine, that this will be it,” Cynthia says.

Paying it forward

From the beginning, the Dorseys have been giving back. They agreed to let Proctor’s team bank the bone removed from Ella’s skull for use in future genetic research on craniosynostosis.

They also want to help other families that live far from Boston. With the earnings from a fundraiser in September, called “Ella’s Journey,” they have helped families from Oregon and North Carolina travel to Boston Children’s for treatment, including Violet. “We met through the cranio world—it’s very tight,” says Cynthia.

Check out the family’s Cranio Strong Facebook page, and this video, where Proctor explains craniosynostosis and the surgical options:

Read more about craniosynostosis and how Boston Children’s treats it.