Taking One Step at a Time: Charlotte’s Journey with Spina Bifida
Lindsay and Paul were ecstatic to find out they were expecting their first child. The couple had just bought their first home and were prepared for their future together as a family. Finding out the gender of their baby was about to be the icing on the cake when Lindsay went in for a routine ultrasound around week 17.
“Learning we were having a girl was the best news we could receive. I wanted my little princess so badly,” Lindsay said. “However, our emotions took a quick turn once our baby was diagnosed with a myelomeningocele, the most severe type of spina bifida.”
Myelomeningocele, MMC for short, is a birth defect in which the bones, skin and soft tissue that protect the spinal cord do not form properly, leaving an opening in the baby’s back. A membrane-covered sac containing the baby’s spinal cord and surrounding nerves protrudes through this opening. The higher the sac is on the spine, the more function loss occurs.
Lindsay’s OB/GYN doctor explored all of the options with the couple. “One of the struggles we faced was a lot of doctors have very outdated information on spina bifida,” Lindsay said. “We recently learned of Dr. Aimen Shaaban’s arrival at Lurie Children’s. He is a well-known fetal surgeon and the Director of The Chicago Institute of Fetal Health, so we decided we would be in the best hands if we transferred there.”
“Trying to accept the diagnosis was like a death in the family. We had to mourn the kid we thought we were going to have,” Lindsay said. “Our brand new house which should have been filled with joy and warmth now felt so cold. You could cut the tension and sadness with a knife.”
Meeting the Team
At 21 weeks, Lindsay received an MRI, high resolution ultrasound, and fetal echocardiogram at The Chicago Institute for Fetal Health to confirm the diagnosis. Following this, the couple met with Dr. Shaaban and his team, including Dr. Robin Bowman, a pediatric neurosurgeon and Co-director of Fetal Neurosurgery at The Chicago Institute. They showed Lindsay and Paul that the MMC was located on the lower part of the spine, which means less function loss will occur compared to if it was higher up on the spine. However, they had explained their baby girl was suffering from hydrocephalus, which is fluid build-up in the brain. She was also beginning to develop Arnold Chiari II malformation, where part of the brain tissue is pulled down into the spinal canal. This can cause issues with eating and breathing as well as cognitive impairments.
“The team explained spina bifida is a snowflake condition, meaning no two people have the same prognosis. Ultimately, they’re going to prepare you for the worst case scenario,” Lindsay said. In their situation, they had to prepare to have a child who could have bowel and bladder problems, issues with their kidneys, and potentially be paralyzed from the knees down. After hearing this, the couple weighed all of the options provided and discussed what worked best for them. “We knew it would be a lifestyle change, but we wanted her so badly that we could work around these obstacles,” Lindsay said.
The Fetal Surgery Decision
Fetal surgery was one of the options. It could stop the hydrocephalus from getting worse, increase the chance of their baby one day being mobile, and has the potential to reverse the Arnold Chiari II malformation while in utero. “We need to give her the best shot at life, so why wouldn’t we do fetal surgery?,” Lindsay said. “The clock was ticking. A surgery of this kind cannot be done past 26 weeks and I was already 24 weeks pregnant.”
On April 30, 2018, Lindsay was going to have the biggest operation of her life. During this prenatal repair, Dr. Shaaban made an incision in the lower abdomen and another incision in her uterus. The team moved the fetus until the MMC could be viewed from the uterine incision. Next, Dr. Bowman covered the fetus’s unprotected spinal cord by closing up the MMC. “Dr. Bowman was able to patch up the lesion better than expected,” Lindsay said. “It’s amazing to think of what they are able to do, for them to go in and completely repair the lesions. It is a medical miracle since it is such a crazy, futuristic technique.”
After four days in the hospital, Lindsay was able to go home and recover while remaining on modified bedrest for the remainder of her pregnancy. “Our baby was kicking away at my incision and handled everything like a champ,” Lindsay said. “For the rest of my pregnancy, I had to receive an ultrasound every week to ensure things were improving. Each week was a milestone.” By week 30, the Chiari malformation had fully reversed and the hydrocephalus had normalized. Their next goal was making it to their scheduled caesarean section at 37 weeks to avoid a premature birth.
On July 23, 2018, past the 37 week marker, she gave birth to a healthy baby girl, Charlotte. “Her hand grasped my nose and I knew all was right. Everything was going to be okay, no matter what was going to face us in the future,” Lindsay said.
Charlotte was taken to the neonatal intensive care unit (NICU), where she had to remain on her belly due to the incision on her spine. “It was instant love, which made it hard to see her hooked up to machinery,” Lindsay said. “We weren’t able to hold her because of her incision. Seeing your child go through all this is mentally taxing, especially because I couldn’t comfort my own child by holding her.”
Eleven days later, the couple was able to take their newborn home. “We got so much great training from the nurses and the doctors. The Spina Bifida team really prepared us to take her home,” Paul said.
Looking back, said Paul, “other than cleaning her incision, she was a normal, healthy baby.”
They were amazed by Charlotte’s mobility and full feeling in her legs from the beginning. “She loved to kick and dance. We always joked she’s kicking spina bifida’s butt.”
“Without Dr. Shaaban, we would have had to travel states away and uproot our lives to have a procedure like this done,” Lindsay said. “We can’t imagine having to make those kinds of difficult decisions. It breaks our hearts to see those who go through a similar situation under terrible circumstances and different outcomes.”
A Bright Future - All Worth It
For the rest of her childhood until her adult years, Charlotte will have follow-up appointments with Dr. Bowman, Director of Lurie Children’s Multidisciplinary Spina Bifida Center.
“Charlotte is an amazing little girl,” said Dr. Bowman. “Although she has one of the most complex congenital conditions, she is meeting all of her developmental milestones and thriving. And her parents have been a big part of that as well, providing unwavering support, even before birth, and encouraging her to be her best.”
At 22 months "she is walking completely independently, isn’t shunted, and is meeting or exceeding her age in both physical and mental abilities. We know she would not be where she is today if it weren’t for all of the wonderful care we received through the fetal health center,” said Lindsay.
“I’m so proud of Charlotte’s progress. The family has taken the entire process one step at a time,” Dr. Shaaban said. “Paul, Lindsay, and Charlotte deserve a lifetime of happiness and so much more.”
Just as Lindsay and Paul have turned to multiple Facebook groups and other families who are dealing with spina bifida, they hope to share some advice they have for those who may have nowhere to turn.
“You have to draw your strength from wherever you can take it, whether it’s from family, friends, faith, or anything else. This will most likely be the most difficult time in your life, and it will continuously test your strength both physically and emotionally,” Lindsay said. “There are so many unknowns during your pregnancy. Try as hard as you can to enjoy being pregnant. You don’t get that time back. I regret being sad during much of my pregnancy, especially right after the diagnosis. It’s ok to be down, but still celebrate that precious little life growing inside of you.”
Sign Up for Our Newsletter
Get health tips from our pediatric experts, news about ground-breaking research, feel-good moments and ways to get involved with us delivered right to your inbox.