Nine-year-old Ariana Dufane is happiest when she’s tumbling, whether she’s launching herself off the ground for a cartwheel or practicing how to perform the perfect split. In that moment, the fourth-grader focuses on nothing but strength and balance, a skill she has refined, not just in gymnastics but in life.
Born with intestinal pseudo-obstruction — a disorder of abnormal intestinal motility function that may cause the body to go into intestinal failure — Ariana’s first few months were spent in and out of emergency rooms. Her symptoms began with a distended belly and an inability to have a bowel movement.
“I could tell she was in horrible pain and I didn’t know why,” says Ariana’s mom, Lisandy Jimenez. “She would cry and break out in a sweat.”
Lisandy tried everything — removing milk from Ariana’s diet, a special formula, antibiotics and other medications. When the options ran out, she took Ariana to a gastrointestinal specialist near their home in Stamford, Connecticut. And, when he ran out of options, she traveled to a major medical center in Philadelphia.
“That’s when we got the diagnosis that it was pseudo-obstruction,” Lisandy says.
Ariana had multiple ostomies, a surgical opening made in the skin as a way for waste products to leave the body, and a gastrostomy, a surgical opening into the stomach for a feeding device insertion.
“We were there for nearly three years, often three months at a time,” says Lisandy. “They no longer knew what else to do for her. They couldn’t keep cutting pieces of her intestine out, so they recommended a transplant.”
A referral for intestinal transplant
Since her current hospital didn’t perform intestinal transplants, Ariana was referred to Boston Children’s Hospital, where she was evaluated in January 2013.
“We went through the entire intestinal transplant evaluation, and the last step was to meet with the surgeon. We were in the room with all the other doctors, discussing the surgery, and they decided to try another option.”
The other option was medical treatment with drugs like Cisapride, a medication that increases motility in the upper gastrointestinal tract. Cisapride is available only at a handful of pediatric hospitals through compassionate care programs, since it was removed from the market by the FDA due to cardiac side effects.
“The transplant team sent her to us to determine the extent of her intestinal dysmotility, with the hope of restoring function in her intestine,” says Ariana’s doctor Leonel Rodriguez of the Motility and Functional Gastrointestinal Disorders Center, and co-director of the Boston Children’s Colorectal and Pelvic Malformation Center, “Her function was not as bad as expected, so we decided to try to medically manage her condition with a combination of Cisapride and PN [parenteral nutrition].”
Alternative solution for pseudo-obstruction
To Lisandy, an intestinal transplant seemed like a fix-everything option, but as she learned more and more, she began to understand how it would introduce a new set of challenges for Ariana — immunosuppressant medication, risk of rejection and a permanent ileostomy bag.
“It would be trading one problem and creating so many more,” Lisandy says. “So, when we decided not to move forward with the transplant, I breathed a sigh of relief.”
The Cisapride had an immediate effect on Ariana’s health.
“It’s been a huge change,” says Lisandy. “The doctors here have managed her condition perfectly.”
For the most part, Ariana seems unfazed by the difficult hand life has dealt. This is her normal. Although she remains on PN for additional nutrients, she can eat whatever she wants, including her favorite sushi — California and Unagi rolls.
She still has an ileostomy bag, but Lisandy remains hopeful Ariana will no longer need it someday.
“Time will tell how well her intestine does,” Rodriguez says. “We’ll have to do motility testing to see if we can reconnect her colon in the future, but it’s a possibility.”
And her future as a competitive gymnast? With transplant out the equation — yes, that’s a possibility too.
If your child is recommended for an intestinal transplant evaluation, contact the Intestinal and Multivisceral Transplant Program.