Stories about: Craniofacial Anomalies Program

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.”

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Our patients’ stories: Treating Owen’s encephalocele

When Jennifer and Kevin Sheridan went for a routine 14-week ultrasound of their unborn son Owen, the only surprise the young couple expected was hearing if they were having a boy or a girl. But seconds after the first images of Owen registered on the grainy, black and white ultrasound screen, the Sheridans’ lives changed.

The pictures showed that the top of Owen’s head hadn’t normally closed during early development, creating a sizable opening. Without the skull to encase them, spinal fluid and brain matter seeped through the hole, ballooning and expanding under his skin. The resulting growth, called an encephalocele, threatened to kill Owen during, or shortly after birth.

“We went from thinking about what color to paint the nursery to praying we’d get a least a few minutes with him before he passed,” Kevin remembers. “It was devastating.”

In spite of the prognosis, the Sheridans went through the pregnancy normally. Over the next few months, Owen grew, as did his encephalocele. By 26 weeks, the mass was nearly as large as Owen himself. But despite the size of the growth, tests showed Owen was developing typically. In fact, he was far more active inside the womb than Owen’s older sister, Aubrey, had been a year earlier. And while Jennifer and Kevin didn’t know it then, those prenatal kicks and turns would be the first indications of Owen’s fighting spirit—a spirit that would eventually come to define him.

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