Before I tell this story, I want to be clear. The parents have okayed the telling of it. In fact, they want me to tell it. They remember the exact moment when they heard that their very first pregnancy had resulted in a fetus with a severe brain defect—in this case an encephalocele. Medically speaking, anything outside the skull, brain, spinal fluid, or a mixture of both is termed an encephalocele. That means the brain is malformed and outside the skull. The excitement of a first pregnancy and growing their family turned to grief in the turn of a moment, with the wave of an ultrasound wand across the mother's abdomen. Just like that—as with thousands of other newly pregnant couples a year who are given similar news, everything else in their lives stopped and focused on that one black-and-white ultrasound screen.
My family has had such a moment. In this case, the parents were my niece, Chappell, and her husband, Chris. Chappell had called me minutes after their 12-week ultrasound, during which their obstetrician had told them that something wasn’t right, that the fetus's brain looked “off.”
“She said I needed to see a neurosurgeon,” Chappell told me over the phone, her breath skipping, clearly trying to control her emotions. “She said I needed to see you, Jay.”
I have met with hundreds of couples in the Fetal Center at Vanderbilt over the past decade, though the majority of couples I see are in evaluation for fetal surgery to treat spina bifida, when the spinal cord doesn’t form and surgery can be done inside the uterus to reverse many of its effects. But fetal surgery is not a solution for every situation, and there is no such option at present for encephaloceles, at least any that can change the outcome. Fetal centers see thousands of ultrasounds a year, each connected to a mother and a father whose anxiety about being there is palpable, whether it’s because of a defect in the brain, heart, kidney, stomach, or lung, or any of the multitude of things that can go wrong during gestation.
“Did she say how much of the brain was outside the skull?” I finally asked, trying to get into neurosurgeon mode, with both the doctor side of me and the uncle side of me fervently hoping that perhaps what the obstetrician had seen was one of the smaller types that can be skin-covered and contain only a small amount of brain and cerebrospinal fluid instead of the larger version with exposed brain tissue, leaking fluid, where the face can be deformed and often there is a large grayish blob between the eyes and the inside of the skull; the latter are quite graphic and highly traumatic for the parents to see, either on the ultrasound, or in real life.
The brain is very clearly not meant to develop outside the skull, and the larger the lesion, the less normal anatomy is present. The smaller skin-covered and fluid-filled type often means surgery a few weeks after birth and the possibility of a close to normal life, perhaps with only a few learning defects or a seizure disorder or hydrocephalus needing treatment.
But in cases in which the vast majority of the brain is outside the skull and the anatomy is completely abnormal, the child will never have meaningful cognitive ability, no ability to feed themselves or swallow—therefore needing a feeding tube and very likely a tracheostomy for a ventilator. That means no talking, no walking, no purposeful movement, no ability or desire to communicate at all. It means wheelchair bound—the kind that supports the head and that someone else pushes. It means pouring feeding through a G-tube at predetermined times of the day—in other words, posing an unimaginable change to the family's life. That child then grows into an adult in size only, left without sentience, without function, and utterly dependent on others from moment to moment for survival.
During gestation, the brain has to form perfectly in order for it to work as it is supposed to. Over the first trimester, neurons all line up in neat rows near the brain's surface. The axons of those neurons are aligned such that they communicate with other neurons along the brain axis that then move the electrical current—the message—down the chain. There are some neurons called interneurons, that communicate across the layers. These are critical for complex thinking and the interplay between various areas of the brain—like the occipital lobe, where vision resides, and the sensory cortex in the parietal lobe. If the brain cannot tell itself where things are in space, then it cannot resolve how the object relates to the self. This is one of thousands of such interplays that are critical to making us functional humans and enabling us to make sense of our existence. There are also critical support cells and cleaning cells and cells that under the microscope look to me like cauliflower cut on end; they produce cerebrospinal fluid. All of this is triggered to form at around the 24th day of gestation, when the anterior neuropore closes, signaling a complex dance of interplaying induction and influence of surrounding cells, one on another. It is a symphony that must unfold perfectly. And much of it can occur before a woman even knows she is pregnant. If there is the slightest disruption of this process early on, devastation to the nervous system can occur. (Important note: Folate is known to promote normal neuron development, which is is why we fortify bread and other essentials with it, to reduce the incidence of children born with severe nervous system defects, like encephaloceles or spina bifida.)
We saw my niece and her husband early the next day. Typically, I am not present for the fetal ultrasound. I come in afterward, look at the images, and then sit with the patient and tell them what I saw and what the diagnosis means. With Chappell and Chris, though, I was there when they checked in, when they were called back, and when Alicia—the technologist I operate with when we do fetal spina bifida surgery—did Chappell’s ultrasound. I could see the defect myself. It was giant. Nearly the entire brain was outside the front of the fetal head. It was clear there was no skin covering it, either, so the malformed brain was also at the mercy of the amniotic fluid, which is thought to grow more toxic to neural tissue as gestation continues.
How did the body not spontaneously abort this fetus? I thought. For something this profound, the body will typically detect the issue, and a chain reaction in which the abnormal fetus is expelled begins. This process is not well understood even by the medical community.
As I inspected the ultrasound screen and screwed up my courage to tell Chappell and Chris what was seeing, I reflected on when Chappell was born, when I first held her as an infant. I could recall trips to the beach with our large and loving family; her playing soccer as a middle schooler; my children walking down the aisle at her wedding. I had always been a part of her blanket of love and protection. But there was no protecting her or Chris from this.
The maternal fetal medicine doctor had come in so that she could be there for the telling and its aftermath. I recounted to them what I saw. After a few minutes trying to take it all in, trying valiantly to compose herself enough to speak, Chappell asked the question that I had been trying to figure out how to raise. She knew. She knew this child, once born, would be unable to interact with the world and would only suffer. The MFM specialist brought up termination. There was silence in the room. Then Chappell asked me: “What do you think, Jay?”
I had known from the moment I saw the ultrasound that I would need to tell them what I have also had to tell the handful of other would-be parents with a diagnosis this severe.
“There is really only one choice here.”
It is May of 2020, just over a year following that fateful ultrasound. The pandemic has fully set in. Chappell and Chris are both in the hospital. This time it is for the birth of a healthy daughter. No one could come to visit due to Covid protocols. There was a question of a tiny sacral dimple at the very base of the baby's spine. Chappelle had sent me a photo, and I knew it was fine—they run in the family. Heck, I have one. But I used it as an excuse to get in to see them. They were both lying in bed with their healthy baby girl. Chris is the kind of guy who puts his whole heart into most everything he does. Golf, baseball, cards—“If you ain’t cheatin’, you ain’t trying” is the humorous family motto for the family card fests. And there he lay, shirt off, his baby girl on his chest. She was beautiful. They were beautiful.
As I watched them, I couldn't help but think back to that other moment a year before, and the impossible decision they'd had to make. This baby might not be in the world had things gone differently, I thought. At the time, I thought about how grateful I was for modern fetal medicine, how we could diagnose, give a prognosis, and treat many things at the exact right time—on occasion even with surgery in the uterus, but most often not.
Chappell and I were recently talking about both those times in the hospital. One encompassed grief and the other near perfect joy. We were discussing the leak of the Supreme Court brief that would soon overturn Roe v. Wade, and how couples like Chappell and Chris would no longer have the option they'd had. To be clear, we are both religious folks. I am a cradle Episcopalian, and she married into a more evangelical church, but our feelings around abortion overlap to include a few exceptions for things such as what they went through, knowing their child would suffer on a daily basis. After talking for a while, Chappell asked me to share her story so people could understand that mercy is a good enough reason to decide to terminate a pregnancy, and that every couple deserves to have that choice. It’s taken me some time to come to terms with choosing a side on this issue, or at least publicly declaring where I stand. But I came to realize I’d be a hypocrite if I didn’t speak out. My family had the option of abortion. Without hesitation, I’d counseled them and others to end their pregnancies. To remove that as alternative from mothers and fathers facing this diagnosis and the profound grief that accompanies it would be a great disservice. The journey was Chappell and Chris’s, but I had walked a part of it with them and experienced my own sets of realizations and grieving. I came to the conclusion that I needed to tell this story so that those in decision-making positions could understand the power of choice and how it can light the darkness along the most unimaginably difficult roads that we must at times walk with our patients.
Jay Wellons, MD, MSPH, is a professor in the departments of neurological surgery, pediatrics, plastic surgery, radiology, and radiological sciences at the Monroe Carell Jr. Children’s Hospital at Vanderbilt and the Vanderbilt University Medical Center. He holds the Cal Turner, Jr., chair and is chief of the division of pediatric neurosurgery and the medical director for the Surgical Outcomes Center for Kids (SOCKs), which he cofounded. His book All That Moves Us: A Pediatric Neurosurgeon, His Young Patients, and Their Stories of Grace and Resilience is recently out from Random House. He has written op-eds for The New York Times and lives in Nashville with his family.
You Might Also Like