The diagnosis

In December of 2014, English teacher John Boylan and his wife, Sarah Boylan, went to the University of Iowa Children’s Hospital for their daughter, Emilia “Emmie” Boylan’s, 20-week ultrasound. John had taken the morning off of work for what he thought would be a quick, exciting appointment. 

It started like most other 20 week ultrasounds. The doctor was able to determine the sex, but John and Sarah said they wanted it to be a surprise. Right after they told the doctor, she noticed something out of the ordinary on the ultrasound.

“The ultrasound [doctor] got really quiet and stopped talking,” John said. “It didn’t feel super celebratory. Usually, it’s one of those things where you go in and they clear you and then you come back in, in however many more weeks. [Instead,] she was like, ‘I think you guys need to go see this high-risk team.’ But she wouldn’t tell us why. I think I was just totally numb to it …. I just got in my car and drove myself 50 minutes to work.”

At the appointment with the high-risk team a few weeks later, they were told that Emmie had spina bifida myelomeningocele (MMC), a neural tube defect where the spine and spinal cord do not form properly. In healthy infants, the neural tube, comprised of the spinal cord and the brain, closes within the first 28 days of pregnancy. As it closes, it acts as a zipper, and ‘zips’ down. 

With MMC, the zipper stops partway down the back, leaving a hole that stretches the rest of the way down. Where the hole stops determines how many nerves it affects, and consequently how severe of a case it is. Because of how far down on Emmie’s back the hole was, the doctors assumed she would have a mild case. 

“They told us a lot of spina bifida kids live totally normal lives other than they struggle to walk a little bit,” John said. “Based on where her defect was, she would probably be able to walk with braces. With therapy, she might be able to walk unassisted or with a walker or crutches.”

 “That was our initial diagnosis,” John said. “[That] she has this neural tube defect, but she’ll live a very normal life, which has not been very true.”