GASTROENTEROLOGY, HEPATOLOGY AND NUTRITION
Abbie

Age 13, diagnosed at birth with recessive dystrophic epidermolysis bullosa (RDEB)

Shortly after Abbie was born, her fingernails fell off and the skin on her right leg washed off during bathing. She was taken to Texas Children’s Hospital, where she was diagnosed with RDEB. Abbie was missing the gene that bonds the skin together.

RDBE is one of the most severe forms of epidermolysis bullosa, a rare disorder caused by structural abnormalities of the skin. In children with RDEB, the structural weakness in the skin results in deep sores and severe scarring. Abbie’s skin is so fragile that it can blister or sluff off from the slightest friction, causing blisters and sores that need antibiotics and constant bandaging.

After Abbie was born, her mother Stacie quit her teaching career to give her fragile infant daughter the extra attention she needed. It took a year for the skin to grow back on Abbie’s legs, but the bandages on her hands, knees and legs didn’t slow her down. She crawled and walked at the same pace as other children.

Over the years, Abbie has undergone multiple plastic surgeries on her hands because scarring from the blisters cause her fingers to web.

Blisters also formed in her esophagus causing difficulty in chewing and swallowing. When she was 14 months old, Abbie stopped eating because baby food hurt her mouth. She had surgery to insert a feeding tube into her stomach.

In the fifth grade, Abbie began passing out in school. Scarring hed closed her esophagus completely and she was unable to eat or drink. Esophageal replacement surgery was suggested by Dr. David Wesson, chief of Pediatric Surgery at Texas Children’s Hospital. Dr. Wesson consulted Dr. Mark A. Gilger, chief of service, Gastroenterology, Hepatology and Nutrition, to try a wire-guided balloon dilation of Abbie’s esophagus. This new technique, similar to opening a clogged heart vessel, proved successful. 

Abbie returns to Texas Children’s every eight to 12 weeks for a procedure to open and stretch her esophagus. Gilger says, “It’s very gratifying to see Abbie be able to eat and grow and act like a normal kid.”

Because of the care she receives at Texas Children’s and the loving care she gets every day from her family, Abbie’s condition has not slowed her down. She swims, rides her bike, draws, paints and gardens.

“What I like to do most is jazz dancing," Abbie said. "I couldn’t take dancing this year, but next year, I want to start again.”

Abbie’s mother describes Gilger, Wesson and the other doctors and nurses at Texas Children’s as warm and caring.

“Dr. Gilger’s like family,” she said, “I can call his office anytime of the day or night, and he calls me right back.”

Abbie has not has not been able to attend regular classes at school, but Stacie describes Abbie’s life as normal.

“Abbie is remarkable,” Stacie said. “She’s tough and at the same time, very sweet and outgoing. She has taught us to appreciate life a lot more.”