As a hospital nurse, Jeanette generally believes she’s “seen it all.”
But when her daughter Catalina was born with a rare variant of cloacal malformation called a covered cloacal exstrophy, she was shocked to learn that the condition is something most medical professionals only read about in textbooks.
Affecting 1 in around every 400,000 babies, cloacal exstrophy (also called OEIS syndrome) is a congenital birth defect that affects the formation of multiple digestive, urinary, and reproductive organs.
Expertise for conditions like Catalina’s is scarce—and seeking medical care from centers with limited experience can lead to greater complications down the line.
Thankfully, newborn Catalina was promptly transferred to the Colorectal and Pelvic Anomalies Center at Children’s Hospital Los Angeles—one of the leading programs of its kind in the nation. The team provides complex care for more than 400 children each year.
Specialized expertise for colorectal and pelvic anomalies
Today, Catalina is a happy, energetic 3-year-old. She continues to receive multidisciplinary care at CHLA while thriving at home.
The family recently celebrated 6 months without a hospital stay—a milestone that felt impossible when Catalina was younger.
As an infant, Catalina underwent a series of complex reconstructive procedures led by Christopher Gayer, MD, PhD, Chief of Pediatric Surgery, and a team of specialists across neurosurgery, urology, and gastroenterology.
“Patients with these conditions require a tremendous amount of hospital resources throughout their lives—resources many hospitals can’t provide at the level needed,” Dr. Gayer explains.
“That’s why we’re here. We’ve invested the time, resources, and developed the expertise for kids just like Catalina.”
Understanding cloacal malformation and exstrophy
During the embryo stage of pregnancy, the digestive, urinary, and reproductive tracts initially form a single channel, called a cloaca. In babies with cloacal malformation, the cloaca never forms into three distinct channels.
Organs like the colon and bladder may be underdeveloped, and with exstrophy, some organs are exposed outside the abdominal wall. Other times, as with Catalina, the exstrophy is covered by skin.
Many babies with cloacal malformation can also have issues with their spine. Catalina’s spinal cord was attached to surrounding tissue and unable to move freely as a newborn—a condition called tethered cord syndrome.
A complex diagnosis
It was during a routine, 20-week ultrasound that Jeanette’s local care team first noticed anomalies. Their first guess was that Catalina may have a bladder obstruction.
Dr. Gayer notes that cloacal malformation can often be misdiagnosed, as the lower abdominal organs are extremely tiny in fetal patients and can be hard to see using ultrasound or MRI.
At 28 weeks, Jeanette was referred to a specialty hospital in L.A. to attempt in-utero surgery for the bladder obstruction—but the surgery was unsuccessful, and Jeanette went into early labor. She stayed in the hospital and delivered Catalina two weeks later.
Specialists explained to Jeanette that what they saw in-utero wasn’t a bladder obstruction, but cloacal malformation. Catalina would need to be transferred to the Steven & Alexandra Cohen Foundation Newborn and Infant Critical Care Unit, CHLA’s neonatal intensive care unit (NICU), for multispecialty care.
Staged surgical reconstruction
Catalina’s condition required a staged treatment approach, Dr. Gayer explains.
First, it was critical to protect her kidneys by ensuring her body could eliminate waste. Within 24 hours of being born, she had her first surgery, an ileostomy, which allowed her small intestine to bypass her colon during digestion.
Additional procedures would need to wait until Catalina was a few months old. Capturing precise measurements is essential to determining which organs need minimal intervention and which require full reconstruction.
“These measurements are extremely small,” adds Dr. Gayer. “We’re talking 2 to 3 centimeters in total.” When necessary, CHLA’s Interventional Radiology team can help conduct a state-of-the-art 3D Cloacagram which provides the highest fidelity imaging possible.
Shared decision making for personalized care
Even equipped with advanced imaging, Catalina’s surgical team needed to be prepared for surprises when it was time to operate. “Surgery for cloacal malformation requires all surgical specialties in the operating room together,” says Dr. Gayer.
During the operation, he explains, the team discovered additional anomalies that required an adjusted plan and timeline: “Our collective experience with complex cases enabled us to pivot, while still ensuring the strongest long-term outcomes for Catalina.”
Throughout all the unknowns of Catalina’s care, what stood out to Jeanette was how thorough the clinical team was in explaining each step of treatment. “I’m a nurse myself—and the way CHLA clinicians talk to their patients is unparalleled. They spend so much time with each family. They deeply care about what you have to say and never rush the conversation. It’s very refreshing.”
Life at home
Jeanette and her husband Edgar spent their first few months with Catalina in survival mode. “I was just trying to get her home,” Jeanette recalls. “We were discharged from the NICU when Catalina was 2 months old, and I felt like I was finally able to absorb what we went through.”
“The NICU nurses always helped us do skin-to-skin in the hospital,” she reflects, “But there was something so special about being in our own home at 2 a.m.—watching her touch her face, turn to her side, make baby noises… Those little moments helped me understand that we were going to be okay.”
Long term management
“The most important thing for families to know is that once reconstructive surgeries are done—usually around 1 year—that is by no means the end of our journey together,” explains Dr. Gayer. “It’s really only the beginning.”
Long-term care for Catalina includes regular visits to CHLA—often, two-hour appointments where she meets with specialists in urology, gastroenterology, colorectal anomalies, and eventually pediatric gynecology to ensure her organs stay functional and infection-free.
She also sees the Intestinal Rehabilitation Team; a specialized group of social workers, psychologists, and occupational, physical, and nutritional therapists. This team helps Catalina eat and absorb nutrients assisted by an ileostomy bag, as well as digest her food and eliminate waste.
The core focus of this multidisciplinary care is empowering Catalina to focus on being a kid—being active and playing (Jeanette notes that no CHLA visit is complete without a trip to the playground), going to school, and socializing with her peers.
A bright future for Catalina
“We take everything one day at a time,” says Jeanette.
“Sometimes, it might feel like we take one step forward and two steps back. But then, we wake up and see how far we’ve come.”
“The fact that we have everyone in one place for all Catalina’s health needs is major—with people who’ve seen and treated everything before. I don’t think that would have been the case if we hadn’t come to CHLA,” Jeanette adds.
“So many others have told me how long it took to find the answers for their child. For us, we had the answers every step of the way.”
Prioritizing access for all
The Colorectal and Pelvic Anomalies Center recognizes that not all patients can make it to a specialty center like CHLA for care.
“From surgery to long-term management, we want physicians and patient families to see us as a resource,” says Dr. Gayer. “Whether that means referring a patient to CHLA, being a sounding board for clinical decision making, or providing a second opinion, our team is here to help.”
Continued research is also essential to improving standards of care for conditions like cloacal malformation—but with so few patients, exceedingly rare diseases can be difficult to study.
That’s why CHLA helped form the Pediatric Colorectal and Pelvic Learning Consortium, a group of 15 global institutions that collaborate to expand research and education. “The consortium enables us to conduct multicenter studies that help improve care and safety across the globe,” Dr. Gayer adds.
“Providing the best care for children with rare and complex conditions requires the expertise of everyone.”
