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The University of Chicago Medicine - Comer Children's Hospital

Brave: Like Mother, Like Daughter

A Game Plan for Congenital Anomalies

When Michelle* went through the two-year adoption process, one of the many reasons she chose Audrey* to be her daughter was because the little girl was born with a congenital deformity called cloaca; Michelle knew she could provide Audrey with the kind of medical care her daughter would never receive while living as an orphan in Asia.

Audrey's cloaca—a condition in which the vagina, rectum and urethra all join into one common channel with only one skin opening—was discovered at birth, and a doctor created an opening for her colon through her abdominal wall and skin (known as a transverse colostomy) as a short-term fix to keep her alive so that the stool emptied into a bag rather than through the common channel. They then created a new anus for her and reversed the colostomy leaving her with an anus and a single opening for her urethra and vagina. But the now-4-year-old needed definitive reconstruction surgery to have a hope of thriving into adulthood.

Upon adopting Audrey, Michelle began searching for a health institution anywhere in the nation prepared to tackle this complex surgical case. She found Grace Mak, MD, director of the Pediatric Colorectal Reconstruction Center, and immediately knew Mak was the right person to trust with her daughter's care.

"The knowledge Dr. Mak and her team have is amazing," Michelle said. "They had a game plan before they had even met Audrey. They knew what cloaca was and were able to explain so clearly how they could help her."

Most congenital anomalies are discovered and corrected at birth, but because of Audrey's adoption, her treatment took place later in life than most children, making her case a more challenging one. In addition to the delayed timeline, the physicians knew little of Audrey's medical history other than what they could perceive from scars on her abdomen and sparse medical records.

A Team Approach to Care

Grace Mak, MD, director of the Pediatric Colorectal Reconstruction Center

Grace Mak, MD, director of the Pediatric Colorectal Reconstruction Center

Cloaca is often associated with a condition called VACTERL syndrome, which is the co-occurrence of multiple birth defects. VACTERL is an acronym for the associated conditions—Vertebral, Anus, Cardiac, Trachea-Esophageal fistula, Renal and Limb anomalies. At Audrey's initial visit, physicians noticed she had several aspects of VACTERL syndrome, including cloaca, tethered spinal cord, anomalies in her left forearm and a neurologic inability to control her bladder function.

To tackle each complexity, a multidisciplinary team, including Mak, approached Audrey's complete spectrum of care: Mohan Gundeti, MD, director of pediatric urology at the University of Chicago Medicine Comer Children's Hospital; Beverly Dooley, APN, NP; Bakhtiar Yamini, MD, neuro-oncology expert and associate professor of surgery; and Christa Fox, APN, pediatric surgery nurse practitioner and head of the bowel management clinic. Additionally, Audrey was having significant constipation issues and was found to have a malpositioned anus. In other words, the previous placement of the rectum to create a neo-anus was not in the appropriate location within the sphincteric muscles. This was likely contributing to her constipation since there were no muscles around the anus to help her stool.

In November 2013, Yamini worked to repair Audrey's tethered spinal cord, and in April 2014 her first reconstructive surgery took place to repair the cloaca. Mak and Gundeti worked collaboratively in the operating room to separate Audrey's urethra and vagina creating two separate openings for each as well as to relocate her rectum to the appropriate spot within the sphincter musculature. They used a diverting colostomy to route her stool through her abdominal wall until her body could heal from surgery, decreasing the risk of complications.

Since Audrey was still having trouble controlling her bladder, in June 2014 the pediatric colorectal team created an ileal continent diversion, which means that the urine passes from the bladder through a segment of small intestine, the ileum, to an opening in the abdominal wall, called a stoma. This will enable Audrey to completely empty her bladder as needed since she is unable to do so on her own.

Management After Surgery

Mohan Gundeti, MD

Mohan Gundeti, MD

Once she recovers from the urologic procedure, she can have the stoma reversed and Audrey and her mom can work on potty training.

Potty training for children with cloaca typically means getting them on a good management program to be able to have bowel movements at socially acceptable times. Fox and the bowel management clinic staff members work with families to manage each child's long-term care with necessary lifestyle adjustments, such as dietary changes, stool softeners and laxatives, rectal irrigations and enemas. Staff members made themselves available at all hours of the day to answer questions and provide support once Audrey returned home, Michelle said.

"She had an extremely complicated case," Mak said. "Audrey has had and will require multiple surgeries as well as long-term care and follow-up to grow with social continence of urine and stool. Though she has a long road ahead of her, she has done beautifully so far and I have no doubt will continue to do well. She is so lucky to have such a wonderful family dedicated to her care and able to work with us so closely to provide Audrey with the best possible care and hopefully outcome."

Michelle received extensive assistance from Dooley and Christine Baker, RN. Baker taught Michelle about at-home stoma care, and Dooley made herself reachable day and night for questions about care and upcoming procedures.

"I adopted Audrey as a single mom, but I was never alone through all of this thanks to supportive family and the amazing staff at Comer," Michelle said.

Comer's Creative Solutions to Ease Anxiety

Bakhtiar Yamini, MD

Bakhtiar Yamini, MD

Audrey has already had at least 12 major surgeries in her life. For Michelle, watching her baby girl go through so much was more challenging than she could have anticipated. However, not only were Audrey's surgeries successful but also the overall care and attention she and Michelle received during various stays. The UChicago Medicine staff went out of their way to quell the little girl's anxiety before every procedure and help her feel in control of the process.

Car rides to the hospital would often spark Audrey's stress, Michelle recalled, but the medical staff let the child wear costumes into the operating room—everything from princess dresses to a mini lab coat and stethoscope—to keep her calm. They would also administer anesthesia by placing the mask on Audrey while Michelle held her daughter so the two could cuddle and talk before surgery began.

"When she's admitted after surgery, she wants mommy to do everything," Michelle said. "I'll take her temperature or be on hand to lift her so the nurses and staff don't have to touch her as much. Audrey's a strong-willed little girl after all she's been through. Being allowed to do these little things has made all the difference."

The child life specialists at Comer Children's also provided toys and crafts to keep Audrey entertained during her hospital stays, and various team members would look after Audrey to give Michelle a coffee or shower break or just a moment alone to recharge. The compassion everyone showed their family was incredible, Michelle said.

"The care we received was family care, not just Audrey care," she said. "The physicians explained everything to me so well, and they were patient and calming with Audrey. Drs. Mak and Gundeti are so gentle and soft-spoken. Their team is truly amazing."

*Names have been changed