Overcoming the Odds of a Rare OEIS Diagnosis

In nature, it takes a lot of pressure to create a diamond. It seems the same might apply to Jaycee. All the challenges she and her family faced have helped create one unique and amazing gem.

Before Jaycee came to Children’s Hospital Colorado, she and her family experienced a troubling diagnosis before birth, treatment in multiple states, an early birth, several surgeries and too many questions. The condition Jaycee has can be overwhelming just to think about. It’s extremely rare and is essentially four conditions combined into one — omphalocele, bladder exstrophy, imperforate anus and spina bifida — also called OEIS.

But once Jaycee came to our International Center for Colorectal and Urogenital Care (ICCUC), her family found expertise, compassion and a home for the complex care she needed.

The first signs of OIES

After having three kids, Flora suspected something was off when her first ultrasound for Jaycee was taking the tech longer to read than usual. When the ultrasound tech went to bring someone else in, Flora was sure something wasn’t right. That night, she got a call from her doctor explaining that they could see the amniotic sac, but not Jaycee’s bladder. The next day, she made the 4-hour drive from southern New Mexico to the University of New Mexico Hospital in Albuquerque.

After they performed some imaging tests, Flora learned that Jaycee had an omphalocele. Doctors also suspected that she had spina bifida and she would need surgery. With all the complications, doctors in New Mexico suggested that Flora should consider terminating the pregnancy. That was in 2011 — today, Jaycee is thriving.

Confirming an OIES diagnosis 

After more extensive imaging tests, doctors confirmed that Jaycee had OIES. This rare combination of conditions occurs about once in every 300,000 births.

OEIS consists of several conditions:

• Omphalocele: A defect in the abdominal wall where the intestines protrude through the belly button
• Bladder exstrophy: A bladder that is open to the outside of the body
• Imperforate anus: A closed anus and sometimes additional spinal defects
• Spina bifida: An opening in the spine that exposes the spinal cord

“It was so overwhelming, I cried,” Flora says. “They suspected she wouldn’t survive more than a couple hours after birth.”

Flora said caregivers in New Mexico began to show her pictures of other children with the condition.

“The pictures were grim and definitely not what you would want to see. I refused to look because I knew I already had the most beautiful gift — my daughter just as she was.”

Seeking the right OIES treatment

Flora went to University of New Mexico Hospital regularly after that to get ultrasounds and try to decide with her family what was best. Even though that hospital had provided great care, they knew they’d need a higher level of care because Jaycee’s condition was so complex. She would need top medical attention right when she was born from neonatal, pediatric urology and colorectal experts.

The family had scheduled appointments in Maryland and Ohio, but Jaycee was coming faster than expected. They wanted to talk to several experts and then decide where Jaycee would be born. But she had other plans.

“We were in Maryland,” Flora says, “and she came out in two pushes, ready to meet the world.”

Jaycee first went into surgery for omphalocele repair where doctors provided her with a colostomy bag. About a year later, surgeons addressed her spina bifida and repaired some of her spinal cord. Then orthopedic surgeons performed an osteotomy to realign her hips. It was around this time that Flora and Jaycee met Dr. Alberto Peña, a leading surgeon in colorectal and urogenital conditions.

“After we met Dr. Peña and his team, we knew he was the expert we needed,” says Flora, “and we went wherever he and his team went.”

The family followed Dr. Peña to Cincinnati Children’s Hospital then to Children’s Hospital Colorado where he helped establish our ICCUC.

Meet Jaycee

At 13, Jaycee has had 10 surgeries and benefits from a complete multidisciplinary care team including our experts in colorectal and urogenital care, gynecology, endocrinology,  urology and more. Flora says everyone plays an integral role in providing the best care, from all the different specialists down to the social worker from our ICCUC, whom Flora said was amazingly helpful. When it comes to such a rare disease, achieving the best outcome relies on having an experienced team working together.

With conditions like OIES, care is ongoing and will continue to be. Since coming to Children’s Colorado, Jaycee had several procedures to help with things like bowel management, kidney stones and a stoma prolapse. She even had a partial hysterectomy — a surgery to remove the uterus. Jaycee has been consulting with gynecologists such as Veronica Alaniz, MD, to decide when the best time to retrieve eggs will be in case she decides she wants to have children one day. Fertility preservation may not have been possible without the close collaboration between our experts.

Jaycee continues to travel to Colorado from New Mexico to see Andrea Bischoff, MD, Director of the ICCUC, for her OEIS management. Things have calmed down quite a bit since Jaycee began coming to Children’s Colorado and now only visits about once a year. Even then, it’s a challenge for Jaycee to find time, which she divides between volleyball, softball, cheerleading, and spending time with her four siblings.

“Jaycee is full of energy and a true inspiration for other children born with complex conditions,” says Dr. Bischoff. “Witnessing her grow up has been a tremendous joy.”

Her unparalleled medical journey has even inspired her sister to pursue a career in healthcare so she can help people just like Jaycee. We know just the place her sister can start when she’s ready to start changing people’s lives.