The ultrasound started very uneventful. It was January 21, 2014 (a day I’ll always remember), and my husband and I were there for the 20-week ultrasound. We found out we were having a girl. We looked at her toes (there were 10), fingers (10 as well), arms and legs. We decided to name her Emma.
After about 15 minutes, the ultrasound technician scanned our daughter’s back and that’s when we saw it. There was what looked like a big bubble poking out of her lower back. The room went silent. My husband and I had taken many pathophysiology classes as undergraduates, so we both recognized what the lesion meant. Still, neither of us dared say anything, as if speaking our fears would make them real. I couldn’t bring myself to ask any questions or say a word. I didn’t want my suspicions confirmed. We watched in silence as the technician scanned up and down her spine. Finally, I had to say something. “Um … does our daughter have spina bifida?” And then I held my breath for an answer.
The technician looked up at me and by her expression I immediately knew. She said something along the lines of, “I can’t diagnose but it looks like there is an opening in her spine -- I’ll have to have the radiologist take a look.” Then she left the room to send the images to the radiologist, who was working offsite. I sat there waiting in shock. My mind was swirling. I had heard of spina bifida, but what did that mean for our little girl’s future? Would she even survive?
Denial was the first thing to set in. It couldn’t possibly be spina bifida. We knew that spina bifida is a developmental defect in which select vertebrae over the spinal cord fail to close – and a portion of the spinal cord emerges through this opening. The most common form – myelomeningocele – could mean an inability to walk and long-term disability. Our little girl was going to grow up taking dance classes and playing sports because that is what we had planned for her future. But there was no denying what we saw. So I resorted to accepting she had spina bifida but that it was probably a “mild” case. I kept thinking, She was moving her legs in the ultrasound so she’ll continue to do so; once she is born nobody will even know she has a birth defect. Eventually, the ultrasound technician returned and told us the system was down, so we were to head home and to expect a call. My husband and I numbly left the office. Once home I started to weep, and I wept for the next several days. I felt like I didn’t even know my baby anymore and all the excitement of being a new mommy seemed to vanish.
Searching for hope; researching our options
The days following the ultrasound, and after the eventual call confirming our fears, my husband and I researched spina bifida as much as we could. While researching we came upon the MOMs Trial, a national study that showed significant benefits from fetal spinal surgery. During this time, we had a fetal MRI, amniocentesis and met with a pediatric neurosurgeon in our area to get more specifics on Emma’s diagnosis. Her lesion level was from L1 to S2, she had a Chiari II malformation (a structural defect in the cerebellum) and dilated ventricles (signaling a related brain condition) - this was the myelomeningocele type of spina bifida. Meeting with him we reviewed traditional treatment options, as well as the newer in-utero surgery. We discussed the pros and the cons and decided surgical correction was an option we’d like to explore. He referred us to a treatment facility that performed the surgery and we left his office.
While I was waiting for this facility to contact us, I found a Facebook group for moms who underwent fetal surgery for myelomeningocele repair. As I asked questions, I was messaged by a mom who had just had the surgery two months prior and was on bed rest in Colorado. She told me about the Colorado Fetal Care Center at Children’s Hospital Colorado and what an amazing team they had. My husband and I had looked into Colorado originally but since our physician referral was to another location, we didn’t realize we had the option to go there. I decided we needed to contact Colorado.
Surgery at the Colorado Fetal Care Center
From the second I talked to fetal care coordinator Gina Dooley on the phone at the Colorado Fetal Care Center, I felt better about our decision. She scheduled everything so we could come to Colorado within the week. She even contacted our insurance companies to make sure we would be covered. For the first time since we had gotten Emma’s diagnosis, I felt relief and hope. Once there, we had another fetal MRI, a round of ultrasounds and fetal echocardiograms, as well as meetings with the fetal surgical team. Given the severity of Emma’s diagnosis, we felt fetal surgery to repair the defect was our best option. Our surgery date was February 27.
The morning of the surgery, I felt I should have been much more nervous. However, I was completely calm. All my prior anxiety seemed to have vanished. I had complete faith in the Colorado team. They genuinely cared about Emma and me, and they were some of the best specialists in the country. The fetal care surgeons and the medical team performed open fetal surgery to successfully close the lesion, and Emma’s spinal cord was fully returned to the spinal column. While on weeks of bed rest there, we got to know the team even more. Never have I been in the company of a more caring medical team. The nurses were outstanding, and many times we’d be checked on by physicians who weren’t even on duty. After two weeks we were discharged home for continued bed rest. Although I was so excited to return to Utah (especially with my husband flying back and forth for work and school), we were going to miss the elite team of specialists, nurses and case workers we were leaving behind.
A message of hope to parents
On April 17, 2014, at 31 weeks and 2 days, our Emma was born (weighing 3 pounds, 1 ounce and measuring 16 inches long). Besides being premature she was completely healthy. Because of the fetal surgery, Emma has not needed a shunt nor have related brain conditions emerged. Additionally, her Chiari malformation has reversed with no complications. Although she does not have much movement in her legs (she might be able to walk at some point with assistance), she has a bright future before her.
These days she is a happy, talkative, spunky girl who is learning to get around the house in her own way and getting into all kinds of mischief. She is our greatest joy and a true miracle.
If there’s anything I could tell a parent who has just found out their unborn child has spina bifida, I’d say: Everything works out. Most especially, don’t let an unexpected diagnosis define everything about your baby. This is just one tiny aspect.
There is a lot of joy and happiness ahead.