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It’s a situation few parents ever imagine during a healthy pregnancy. Yet there Laura and Jared Maxwell were, waiting anxiously in the Division of Genetics and Genomics at Boston Children’s Hospital as their infant daughter, Reagan, under went a barrage of tests. After their little girl had been born with a congenital anomaly just a few weeks earlier, physicians wanted to make sure that she didn’t have other related genetic syndromes that could affect her heart, kidneys and other organs. “It was one of the most terrifying days of my life,” recalls Laura. …
Focused on Faysal: From Saudi Arabia to Boston for reconnection surgery
It began as a fun, relaxing trip. In 2016, the Alwosaifers were visiting Massachusetts from their home country of Saudi Arabia. It should have been an idyllic summer vacation — but then their youngest child, Faysal, got sick. What started as a stomachache soon worsened until the 12-year-old collapsed with severe abdominal pain. …
When transplant isn’t the only option
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. …
Carrying Savanna through her journey with cloacal malformation
When two-year-old Savanna Bluford enters Boston Children’s Colorectal and Pelvic Malformation Center, she quickly gravitates toward the waiting room’s interactive light board. Sporting pigtails, sparkly sneakers and an angelic smile, the playful toddler’s attention quickly turns to her doctor — the Center’s Co-Director Dr. Belinda Dickie. The two light up with smiles and exchange hugs as if old friends — and that, they are.
Savanna was born in South Carolina with a rare and complex birth defect affecting the gastrointestinal, urological and reproductive systems.
The condition, called covered cloacal malformation, occurs when the bladder, colon and vaginal channels are connected. This connection causes a mixing of stool and urine, which exit the body from the same location. The malformation also impacts the spinal cord.
In order to correct Savanna’s condition — which affects one in 250,000 children — she will undergo a multi-staged, multi-year reconstruction process to repair all three systems.
When it came time to find a pediatric surgeon that specializes in such complexities, Savanna’s parents searched the nation for an expert — and they found Dr. Dickie. …