Children's Hospital Colorado

John: Myelomeningocele (Spina Bifida) Success Story

Blonde boy in a restaurant with a spoon in his mouth smiling. My husband Chris and I found out we were pregnant when our second daughter was just 11 months old. We had not really talked about having another baby, because we were still sleep deprived and couldn’t really see past the insanity that is life with two girls under the age of three.

I was nervous through the first part of the sonogram. Our sonographer finally told us we were having a baby boy and happy tears ran down my face. Having a boy for our last child was a dream come true! I have always wanted a son, not so much for me, but for my husband. He is such a wonderful dad to our daughters, so I could only imagine how great his relationship with a son would be. Our elation quickly changed to concern, then fear, as the sonographer focused intently on our baby’s “lemon-shaped head.” I’ve had enough sonograms to know that something isn’t right when the tech spends several minutes looking at one particular area. The beginning of our pregnancy was routine. At 20 weeks, we went to the ultrasound that would measure growth and find out the baby’s gender. Now, ultrasounds have always made me nervous. Our first child was stillborn at 40 weeks, the cause unknown. Being pregnant after a loss at full term was the hardest time of my life … until this diagnosis.

The tech told us to wait in the next room for our doctor. I sat on the table crying. Something was wrong with my baby. When our doctor came in, she said she wanted us to see our perinatologist for a higher-level ultrasound. She wouldn’t say what was wrong with our baby, but I could see the concern on her face. It was the Fourth of July holiday weekend, so we had to wait an agonizing three days (of which I spent hours Googling “lemon-shaped head in fetus”). Finally, we had the news: Our son had myelomeningocele, the most severe form of spina bifida. We were shocked. Stillbirth happens in about 1% of pregnancies and so does spina bifida. How on earth could we be in the 1% again?

We fought back tears as the doctor ticked off the problems our son could face: required walking assistance, issues with his bowel, bladder and sexual function. And, he would likely have hydrocephalus, requiring lifetime cerebral shunt placement to eliminate brain swelling. I sat there numb. I was angry with myself, angry at God and devastated that my vision of a perfect little boy was now muddled with a life-changing birth defect. The perinatologist explained that, typically, the mother carries the baby to term or near term, delivers via C-section, and the baby then undergoes surgery. Or, we may be candidates for fetal surgery repair, which would happen before the baby was even born. Sad, discouraged and angry, we left her office facing one of the biggest decisions we would likely make in our lifetime.

Understanding myelomeningocele and a difficult choice

As an OB/GYN for 40 years, Chris’s dad quickly connected us with his perinatologist, who referred us to Dr. Timothy Crombleholme, a fetal surgeon at the Colorado Fetal Care Center within Children’s Hospital Colorado. Chris immediately made a call and left a message explaining our situation. We were surprised to get a call back from Dr. Crombleholme himself within the hour. Chris’s initial impression of Dr. Crombleholme was that he had a robust understanding of our situation and the harsh choices we were facing, and that he or his staff would fully and truthfully answer any question we had.

The window between diagnosis and when fetal surgery needs to occur is small, so we didn’t have the luxury of hoping or praying for the right answer. Within a week we were set to review our case with the Colorado Fetal Care Center fetal care specialist at Children’s Colorado. When we walked into the room there to discuss our unborn baby JD’s myelomeningocele diagnosis, we were surrounded by a team of brilliant maternal fetal medicine doctors, pediatric neurosurgeons, anesthesiologists, neonatologists, nurses, social workers and genetic counselors. It was like being at a massively important exam, but we had only studied the Cliffs Notes! With heavy emotion, we watched one of the doctors review images of our “imperfect” son. It is difficult for a mother to admit this: Yes, I saw my baby, but all I could see was what was wrong.

The procedure’s risks were numerous: preterm labor, membrane rupture, preterm delivery or worse. I would be on required bed rest until the birth (and bed rest doesn’t work when you have a 1- and 3-year-old who demand constant attention!). Then there was the seemingly unthinkable complexity to the logistics: Who would watch our daughters and who would take care of them when I returned home for bed rest? It was an overwhelming day. We were grateful for their knowledge, yet we had a huge decision — and time wasn’t on our side.

Back home in Kansas City, we shared what we learned with family and friends, and consulted with fetal health center staff at our local children’s hospital. The main benefit we kept hearing was that with fetal surgery, the shunt possibility fell to less than 50%. But we struggled with the risk. Weighing it all, I had decided not to pursue surgery until I heard one of the neonatologists at our local children’s hospital say “good things are coming out of this surgery.” That was my turning point. As JD’s mother, I had to know that I did everything in my power to better his outcome in life. With our girls cared for by my parents, we made the trip back to Colorado.

Fetal surgery at the Colorado Fetal Care Center

We reported to the hospital at 5 a.m. with a 7 a.m. start time. Once I was under anesthesia, the team spent more than an hour positioning me on the operating table to access my uterus and baby. The second stage was “gaining access,” with an incision in my lower abdomen. This is the first of multiple steps that allow the team enough space and appropriate positioning to work. Using ultrasound, the team confirmed the position of baby and placenta for correct entry.

The third stage was the myelomeningocele repair, by Dr. Michael Handler. It was explained in three steps. First, remove the extruded area (the sac). Second, tuck the contents back into the posterior of the baby. Finally, close the different layers of the spine and skin (dura/fascia). The closure needed to be water tight to prevent any additional cerebrospinal fluid (CSF) from leaking and any amniotic fluid from entering the area. The benefit of repair in utero versus after delivery is to allow the CSF fluid balance to right itself, which aids brain component development (mostly cerebellum). Through this, we could potentially avoid the VP shunt, which is surgically placed in the newborn’s head to relieve brain swelling.

After the doctors were finished, they met Chris in the waiting room and explained how pleased they were with everything. The whole procedure took about 3 hours and 15 minutes. I woke up groggy and in pain, being transported by ambulance to the adjacent University of Colorado Hospital (their partner in care within the Colorado Institute for Maternal and Fetal Health), where I would recover. I had been put on a magnesium sulfate drip to prevent premature labor. Being on mag sulfate is like being in a giant, itchy fog with a traumatic case of poison ivy. At day three after the surgery, I finally started to feel normal again (well, as normal as one can be after a surgery that made me feel like I was part of the Sci-Fi channel).

We were discharged to our nearby hotel, an interim home for two weeks. The only way we made it through was a visit from my parents and girls. It was amazing to see the girls after such a rough week. Prior to departure, we had a final sonogram. Chris and I were elated to hear that the sonogram showed a near complete resolution of our baby’s hindbrain herniation (known as Chiari malformation). Just three weeks after surgery, we were already seeing benefits.

Once home, we welcomed John Douglas (JD) via C-section on October 17, 2013. He was born at 35 weeks and weighed about 5 pounds. After nine days in the NICU, we brought him home.

Moving forward and looking back

JD is now just over a year and a half old. His neurosurgeon recently confirmed he will not require a shunt. We are overjoyed and thankful every day that we chose to pursue fetal surgery.

These days JD is actively crawling on all fours and working hard at pulling himself to a stand. We are optimistic that with hard work, he will walk. I am a believer in the power of modern medicine and encouraged by what the future holds for children with spinal cord defects. We truly felt like we were in the best hands possible with our doctors and nurses and that they cared deeply for our son’s outcome. I am confident that JD’s life is better due to our decision to pursue fetal surgery, and we have Dr. Crombleholme and his team to thank.

JD is such a delight and he makes everyone around him smile. I had the hardest time accepting the fact that I would have a child who wasn’t “perfect.” But JD has completely changed my perception of what perfection really is.

We are now a more “perfect” family – with JD in it.