Too close for comfort: Difficult to diagnose craniosynostosis case leads to unique discovery

5-2-2014-Norah-IVWhen Luke and Emily Hawkins first learned that their daughter Norah may have been born with a birth defect called craniosynostosis—meaning the sutures of her skull may have fused too early—they were understandably worried. A child’s skull typically takes years to fully fuse, allowing the brain room to grow and develop during her formative years. But if the skull fuses too soon, as Norah’s doctor suspected might have been the case with her, it can create excess pressure on the brain that can lead to developmental delays, learning disabilities and possible cosmetic issues.

It was a lot for the first-time parents to process, especially since Norah showed so few signs of trouble. “At two months old, she was hitting all the typical milestones, but there were a few aspects of her head growth that were concerning to her doctor,” Emily remembers. “We had x-rays taken, but unfortunately, those were unable to clearly show whether or not she had the condition. It was a very uncertain and frightening time.”

Emily immediately went to the Internet to learn more about craniosynostosis and its diagnosis. Her search eventually led her to Craniosynostosis And Positional Plagiocephaly Support (CAPPS), an organization that supports families whose children have craniosynostosis and connects them with doctors who specialize in its treatment.

Mark Proctor, MD

Just a day later, Emily and a CAPPS member were trading emails. Soon those emails included pictures of Norah’s head, which made their way to other CAPPS members and then to the various doctors and specialists to get their take on her skull development.

Within 24 hours Emily received an email from Boston Children’s Hospital’s Mark Proctor, MD, a neurosurgeon and craniosynostosis expert. Based on Norah’s images, Proctor said it was likely that she was living with a mild case of craniosynostosis. But the safest way to know for sure would be a physical examination. (Craniosynostosis can be positively identified by physical examination by a specialist in almost 98 percent of all cases, but Norah’s x-rays and chart readings were simply too close to call without further testing.)

“Since craniosynostosis is largely identified from visual indicators, Dr. Proctor’s initial read on her photos was very compelling and informative,” says Emily.  “He took his time and answered all our questions about the surgery and the next steps in the process.”

Proctor explained that if Norah did in fact have the condition, there were many treatment options available, including minimally invasive endoscopic surgery. Endoscopic procedures use small incisions and miniaturized cameras and tools, so patients lose less blood during surgery. They also have smaller scars when the procedure is over and recover more quickly. (Proctor is one of just a handful of surgeons in the country experienced in minimally invasive craniosynostosis surgery and has authored several key papers about the technique. He’s even been involved in developing national, formal parameters of care for the condition.)

5-2-2014-Norah-III“Dr. Proctor came highly recommended by CAPPS, and after talking to him on the phone, I felt confident that he was the right doctor to provide Norah’s treatment,” Emily says. “He was so informative and helpful it put me at ease right away.

“When you’re the parent of a child with medical issues, that combination of confidence and comforting is everything,” she adds. “It was exactly what we needed to hear at the time.”

A race against the clock

After speaking with Proctor, the Hawkinses were sure they wanted him to perform endoscopic surgery on their daughter, but that was easier said than done. Endoscopic surgery for craniosynostosis works best in children who are just 3 to 4 months old, a small window in development when the bones are still soft and pliable. Considering that Norah was already 3.5 months old and lived nearly 3,000 miles away from Boston, time was short.

Luke and Emily worked quickly with Proctor, their local pediatrician and insurance provider, as well as some new friends from CAPPS. Within a month, the Hawkins family was boarding a flight for Boston.

The next day they met several members of Norah’s new medical team, including nurses and anesthesiologists who answered all their questions about her upcoming surgery. But that evening, as Proctor spent time getting to know Luke and Emily and examining Norah, he made an announcement that surprised everyone, including himself: He wasn’t sure if Norah had craniosynostosis after all.

Room to grow

5-2-2014-Norah-INorah was taken in for a CT scan, and the Hawkinses spent the next few hours anxiously awaiting the results. “Up until that moment, everything we had heard and read led us to believe that Norah had craniosynostosis. It was basically a foregone conclusion,” Emily says. “But in an instant everything was different. We were trying to come to terms with this new, previously nonexistent hope, while at the same time preparing for what was likely to be her official diagnosis.”

When Proctor called the Hawkinses that afternoon, he was the bearer of good, if not surprising news—Norah did not have craniosynostosis, and her skull sutures were still open. Based on the results of the CT scan, Proctor said she had benign scaphalocephaly, meaning that her head was elongated but without any signs of craniosynostosis.

In light of this new information, Proctor said he saw no health implications for Norah. If she needed any treatment at all, he said, it would likely be in the form of a helmet to guide the development of her still-growing head. Aside from that, she was fine.

“Finding out Norah didn’t have craniosynostosis was shocking. And based on all he had seen, Dr. Proctor said he was as surprised by the diagnosis as we were,” Emily says. “After everything we went through, we’re grateful for the highly skilled teams and specialists at Boston Children’s who took great care of our daughter throughout this process. We’re confident that their skill and knowledge of craniosynostosis contributed to the positive outcome of a challenging situation for us.”

To speak with one of Boston Children’s craniosynostosis experts, please call 1-617-355-6309 or visit the website of the Craniofacial Anomalies Program.