Spina Bifida: Caoimhghin's Story

Caoimhghin Williams was the very first baby delivered in the Garbose Family Special Delivery Unit (SDU) at CHOP, and the unit seemed to be designed especially for him. 

Diagnosed before birth with spina bifida, Caoimhghin would require surgery immediately after birth to repair the opening in his spine. Having everything in one place meant mom and baby could stay close, and Caoimhghin had access to all the pediatric specialists he needed before, during and after delivery.

On June 10, 2008, Caoimhghin (pronounced KEY-vin) was the first. Not the first child in his family — he followed three older brothers — but he’ll always be remembered at The Children’s Hospital of Philadelphia because he was the very first baby delivered in the Garbose Family Special Delivery Unit (SDU).

Caoimhghin was prenatally diagnosed with spina bifida, a birth defect in which part of the spinal cord and surrounding nerves are left exposed through an opening in the back. The continuous exposure to amniotic fluid can damage the spinal cord and cause a wide variety of issues, including bladder and bowel problems, orthopedic malformations such as club feet, paralysis, and weakness or loss of feeling below the lesion.

The pregnancy would require close monitoring and Caoimhghin would require surgery immediately after birth to repair the opening.

caoimhghin Caoimhghin practicing his latest dance moves. These needs were a perfect example of why the SDU was created — so that babies with prenatally diagnosed birth defects who would require immediate, specialized care after delivery could be born and receive that care all in one place.

Fast forward five years and, according to his mom and dad, Caoimhghin is just what you’d expect from any kid his age — extremely mobile, tenacious and happy, and excited to be turning 5 years old.

A familiar journey

Courtney and Marty Williams weren’t strangers to high-risk pregnancies, having delivered Caoimhghin’s identical twin brothers 18 months prior, or to spina bifida, as Courtney grew up with a sister with the condition. When Caoimhghin’s diagnosis was confirmed, they were nervous but ready to tackle the challenges ahead.

The family’s maternal-fetal medicine specialist referred them to the Center for Fetal Diagnosis and Treatment (CFDT) at CHOP because of the team’s extensive experience with prenatal diagnosis and spina bifida treatment options, including fetal surgery. In fact, Center team members pioneered the prenatal surgical procedure. After the comprehensive, full-day evaluation and meeting with the team, Courtney and Marty knew they wanted Caoimhghin to be treated at CHOP, even though he wasn’t eligible for fetal surgery.

“They had done the tests, were familiar with him, and the team was very well-known for being on the cutting edge of diagnosing and treating birth defects,” says Marty. “It was where we felt most comfortable.”

Keeping families together

Another benefit that drew them to the Center was the brand new Garbose Family Special Delivery Unit (SDU), which was opening just in time for Caoimhghin’s arrival.

A transformative gift from donors Lynne and Bill Garbose allowed CHOP to create the world’s first birth facility specifically designed for mothers carrying babies with known birth defects. Babies born in the SDU either have undergone fetal surgery to treat the birth defect before birth, or, like Caoimhghin, need immediate specialized care or surgery soon after birth.

The SDU brings together expert prenatal care, customized delivery plans and a multidisciplinary team with extensive experience caring for babies with birth defects and their moms, all in one place. This setup not only minimizes the risks of transporting fragile babies, but allows mom and baby to stay close after birth, making a difficult time easier on the family.

“It was a tremendous difference, versus my other deliveries; so much easier for me to be able to go downstairs and see him,” says Courtney. “It was almost cathartic. The SDU gives parents the ability to make decisions together. We’re tremendously grateful for CHOP being there, and for the SDU. It really kept us together, it truly did.”

Surgery for spina bifida

Caoimhghin underwent postnatal surgical repair of myelomeningocele (MMC) just a few hours after birth. Postnatal spina bifida treatment involves surgery to close the defect within the first 24 to 48 hours of life. A pediatric neurosurgeon removes the MMC sac, if present, and closes deep tissue layers and skin over the defect to protect the spinal cord and nerves. Often, a shunt is required to drain spinal fluid from the brain, but so far Caoimhghin has not required this.

“It truly is a miracle, the doctors being so excellent at what they do, to preserve so much of what he can do,” says Courtney. “He is totally mobile, loves to dance, rides a two-wheeler and is looking forward to T-ball.”

Persistence and progress

caoimhghin and family Caoimhghin with his brothers and sister. Today Caoimhghin continues to make progress and regularly returns for follow-up care through CHOP’s Spina Bifida Program, which offers long-term management for infants, children and teens with spina bifida and other spinal cord problems. These children can develop new health problems throughout their lives and into adulthood, so long-term care is an important aspect of spina bifida treatment.

Above all, Courtney and Marty want Caoimhghin to know that he can do whatever he sets his mind to.

“He approaches life with a great sense of humor,” says Courtney. “He’s also very bold. We tell him all the time his boldness is persistence — that comes right along with everything he’s been through. We want him to do whatever it is he wants to do, as long as he gives everything his all. We’ve never watched him shy away from anything.”

They also hope that he’ll be able to grow up in a world where people are more understanding of birth defects like spina bifida. For Courtney, whose sister passed away at age 17 after struggling with the condition, the progress that has been made in spina bifida treatment options, as well as advocacy, is encouraging.

The Williams family encourages other parents in their shoes to contact their local spina bifida associations for more information, and to meet other families going through similar experiences. They also talk about the importance of being an advocate for your child, even before he or she is born.

“Keep hope alive,” says Marty. “Take it one day at a time. There’s no sense worrying about it.”

Originally posted: July 2013