Early in 2015, Jennifer and Vincent Ramirez had everything they wanted — two healthy children: Violet, 5, and Vincent, 3, and they had just bought a new home in Salt Lake City. The couple decided to try for a third child.
Jennifer learned she was pregnant in a few weeks.
“Everything was going according to plan,” recalls Vincent. In July of 2015, the entire family packed into an exam room for Jennifer’s five-month ultrasound.
“The doctor wasn’t talking much, and the ultrasound seemed to be taking longer than usual,” says Jennifer. After the ultrasound was done, the doctor asked the couple if they could put their children in another room while they discussed the results.
“There’s something wrong with your baby’s head,” the doctor reported. The week after the ultrasound Jennifer had a fetal MRI.
Eva’s diagnoses: An encephalocele and microcephaly
The Ramirez’s unborn child was diagnosed with an encephalocele, a rare neural tube defect in which the tissue covering the baby’s brain protrudes through the skull, and microcephaly, a much smaller head size than normal.
“For the next four months, we heard bad news after bad news,” says Jennifer.
Eva was born on Nov. 17, 2015. “’She’ll let you know whether she wants to live or not,’ the doctor told us,” says Vincent. Their new daughter started breathing on her own and sucking on her pacifier right away. A neurosurgeon recommended an MRI and surgery the following day.
Nov. 18 arrived.
Eva’s medical team showed Vincent and Jennifer their daughter’s MRI and told them Eva’s anatomy was too complex for surgery. A critical vein made surgery too dangerous, which meant her encephalocele was inoperable.
When Jennifer pressed doctors about Eva’s life expectancy, she was told her daughter could live a few weeks. The consensus? Take Eva home on hospice, and keep her comfortable.
Jennifer and Vincent followed their doctors’ suggestions.
But Eva seemed to be doing OK when they brought her home. The biggest challenge was Eva’s twice-daily dressing changes. Her encephalocele needed to remain covered because it constantly leaked fluid. It was a two-person job to unwrap and re-wrap the bandages covering their daughter’s fragile head. They learned and adjusted.
A second opinion brings hope
Jennifer tried to learn more about Eva’s condition. “I saw a story about Owen, and that brought us to Boston Children’s Hospital.”
She emailed the Boston Children’s Hospital Craniofacial Program and was connected to Dr. Mark Proctor, interim neurosurgeon-in-chief, but kept her hopes in check. “I figured ‘What are they going to tell us that we don’t already know.’”
Proctor and Dr. John Meara, plastic-surgeon-in-chief, reviewed Eva’s images, decided Eva’s encephalocele could be operable and responded to the couple.
“Although the venous anatomy was complex, the major vein of concern to the surgeons in Utah did not seem to drain the normal brain, just the encephalocele, so it could be ‘sacrificed’ at surgery with no effect on the remaining brain,” explains Proctor.
“I read the email at breakfast but had heard inoperable so much that’s how I read it,” says Vincent. Later that night, he re-read the email and realized what it meant.
“We were in shock and kept asking what Boston Children’s could do that Salt Lake City couldn’t,” says Jennifer. They dug into Meara’s and Proctor’s plan, trying to understand their recommendation.
It was December. Eva’s condition began to worsen; she wasn’t keeping milk down, and her weight was plummeting.
“It was so scary because we knew she might not come home with us,” says Jennifer. They hugged her and held her upright on the long plane trip, hoping she wouldn’t throw up.
It was so scary because we knew she might not come home with us.
When they arrived at Boston Children’s on Jan. 2, Eva’s weight had dropped from 6 lb. 1 oz. at birth to 4 lb. 6 oz.
“We knew she was too sick for surgery,” says Jennifer. Eva’s lab results were all abnormal; her sodium level was extremely low because she was losing so much brain fluid through the encephalocele.
After she was re-hydrated with IV fluid, Eva seemed to turn a corner. She stopped throwing up and started eating like never before.
But the term “inoperable” still loomed large for Vincent and Jennifer.
A different view of Eva’s encephalocele
“Finally, Dr. Proctor told us he didn’t agree with the first team. We realized he was seeing something completely different,” says Vincent.
“We were still cautious and scared,” adds Jennifer. Because Eva was so frail and not yet strong enough for surgery the couple had a week to consider how they wanted to care for Eva.
“If we went back to Salt Lake without Eva’s surgery, we knew what would happen,” says Jennifer. “But we didn’t want to do more harm than good.”
Proctor explained Eva’s prognosis was not good, involving Jennifer and Vincent in the medical decision and sharing that there is no right or wrong answer. “Eva is likely to have significant issues, including seizure disorder and developmental delay,” Proctor says.
“The goal of surgery is to give the child more time with the family and make her care more manageable,” he explains.
“We weren’t sure what was right. We asked ourselves — do we fight with her or let her go,” says Jennifer. “Eva bounced back so quickly at Boston Children’s, our choice became clear.”
The Ramirezes decided to give their daughter a chance and went ahead with the surgery to remove the encephalocele.
The surgery itself took about an hour. Proctor removed the encephalocele and the abnormal vein.
“It was the best decision. When they took the bandages off, it was like meeting a new baby. She looked so familiar but so different,” says Jennifer.
Less than a week after surgery, Jennifer and Vincent packed their bags to return home. “We have our daughter for more time. Eva’s life won’t be perfect, but we are going to try to make it the best for her that we can,” says Jennifer.
Learn more about the Boston Children’s Craniofacial Program.