Expert Pediatric Care at Holtz Children’s Hospital Gives Young Girl Born with Rare Congenital Condition a Healthier Future

By: Krysten Brenlla

When Jaylani Jackson was born, her mom, Florence Sanchez, knew she was someone special when she saw the big smile on her face as she made her entrance to the world.

However, within three days of her birth, Jaylani’s doctors noticed something wasn’t right. She wasn’t passing bowel movements. After being monitored in the intensive care unit (ICU), Jaylani was diagnosed with Hirschsprung’s disease, a rare condition where the nerve cells are missing in a newborn baby’s large intestine, causing bowel blockage.

“Jaylani spent three months in the ICU after that initial diagnosis, which was terrifying,” Sanchez said. “Since her diagnosis, she’s had more than 17 procedures.”

For years, Sanchez and Jaylani went to different hospitals across South Florida looking for treatment options and the right team to help her. After a surgery to remove the affected area in her colon, and several hospitals telling them the only option was an ostomy bag, Sanchez and Jaylani sought another opinion with Holtz Children’s Hospital’s pediatric gastroenterology, hepatology, and nutrition teams.

There, they met Miguel Saps, MD, chief of pediatric gastroenterology, hepatology, and nutrition at Holtz Children’s, who found an innovative treatment option that would change the course of Jaylani’s life.

“Typically, with Hirschsprung’s disease, surgery is required to remove the affected portion of the colon,” Dr. Saps said. “Jaylani had surgery before coming to us, and even when surgery is done correctly, up to 60 percent of patients continue to experience bowel issues, which was Jaylani’s case.”

To confirm what was causing Jaylani’s s bowl control issues, the team performed an anorectal manometry test and an exam under anesthesia. The anorectal manometry uses a small catheter with sensors and a balloon to measure the anus’ pressure, muscle coordination, sensation, and ability to hold and release control.

“The evaluation found that Jaylani’s dentate line was damaged, which is a critical area that allows the body to sense stool, differentiate gas from stool, and control bowel movements,” Dr. Saps said. “Because it was damaged, Jaylani couldn’t feel when her stool was present and suffered from frequent accidents.

The evaluations provided the missing answers our team needed to help her, and once we figured out the problem, we knew that the next step for Jaylani was surgery.”

Jaylani and Sanchez met with Eduardo Alfonso Perez, MD, a pediatric general surgeon at Holtz Children’s and UHealth – University of Miami Health System, who gave them the confidence they needed to move forward with the surgery. In September 2020, with the help of a multidisciplinary team, Dr. Perez successfully performed a Malone appendicostomy, a procedure where a small tube is surgically placed in the patient (often through the belly button or side of the abdomen) to allow the colon to be flushed once a day.

After spending a few nights in the hospital, Jaylani was ready to go home.

“From the moment we met the team at Holtz Children’s, we knew we were in the right place,” Sanchez said. “They listened to us, explained everything clearly, and truly cared about Jaylani as a person, not just a patient.”

Today, Jaylani, now 8 years old, is living free from constant accidents and fear. Each night, she and her mother work together to flush out her colon through the small tube, and they regularly meet with Dr. Saps and the pediatric gastroenterology team at Holtz Children’s to ensure she remains healthy and thriving.

And while their daily routine looks a little different, Jaylani lives life to the fullest. She goes to school, swims, travels, showers normally, and participates in the same activities as any other child.

To make those experiences easier, Jaylani and her mom created a teddy bear-shaped cover for the tube, helping her feel more comfortable and confident. They also use their voice and social media platforms to advocate for other children living with Hirschsprung’s disease, educating families about their options and showing that a full, joyful life is possible.

“I didn’t ask to have this disease, but just because I have it, doesn’t mean I have to give up,” Jaylani said. “I’m super thankful for Holtz Children’s and Jackson – they’re helpful to every kid, and they make sure that every kid gets cared for.”