Local family puts a face to rare but serious birth defect | News

BIRMINGHAM, AL (WBRC)- Gastroschisis is a serious birth defect where a baby is born with a hole in their abdominal wall and the intestines on the outside of their body. It affects roughly one in 2000 children and in Alabama doctors at Children's Hospital are saving lives affected by this condition.

We recently met a family from Heflin, AL being treated for the defect. Their baby daughter Gracie is six months old, but they knew before she was born that something was wrong.

Her mother, 19-year-old Haley Kilgore, said it was scary news.

"Actually four days after I found out I was having a little girl they called me and said something was wrong with the blood test," said Kilgore.

She came to UAB and underwent a detailed sonogram before her baby was diagnosed with Gastroschisis.

"They said if we could choose a birth defect to have it would be Gastroschisis because of all the technology now; it's so fixable," said Kilgore. "So it was a little enlightening, but it was still scary to me."

Kilgore read everything she could on the defect while preparing for birth. She carried her baby for 35 weeks and Gracie was born on January 24. Like many new families dealing with a birth defect, the early days were scary.

"She was very sick and she had a lot of toxins in her due to the bowel floating on the outside," said Kilgore.

"I got to see her probably for a couple of hours that night and then they transported her over here to Children's the next day and we didn't get to hold her or anything. I didn't get to hold her until she was probably 6 days old."

Gracie underwent four surgeries in her first six months.

[Video: Heflin baby battles Gastroschisis, a rare birth defect]

Dr. Reed Demmitt, Division Director of Pediatric Gastroenterology at Children's of Alabama said 90 percent of Gastroschisis cases are uncomplicated and only require surgery to put the bowel back in the body. Gracie wasn't so lucky; most of her bowel was dead. Surgeons removed the dead intestines and have been working to rebuild the little bowel that she has.

"She's actually undergone just recently a kind of bowel lengthening operation," explained Dr. Demmitt. "The surgeons go in and kind of staple across the intestine and make it double the amount of her intestine to try to give her a better chance of what we call adaptation, where she'll hopefully be able to get off of IV nutrition."

That IV nutrition can cause liver problems, but so far Gracie is tolerating it well. She has a feeding tube and is 100 percent reliant on TPNs, also known as total parenteral nutrition. It's a mixture of protein, sugars and fats that's administered through an IV, 22 hours a day.

Gracie's parents Haley and Charles Kilgore will continue to give her TPNs at home. Their challenge will be to push Gracie for longer cycles off the machines so she can continue to develop and reach normal baby milestones like rolling, crawling and eventually walking.

Gracie will likely undergo more procedures to lengthen her intestine and Dr. Demmitt is optimistic that with her parents' help, she may be able to bypass a full intestinal transplant.

"She's a very normal, happy baby," said Kilgore. "She just doesn't have as much tummy as everyone else. Hopefully she can live a normal life and eat normal foods and not have to worry about getting nutrition through an IV."

Little is known about the cause of Gastroschisis, but younger mothers, like Kilgore, are at a higher risk. Children's of Alabama has also identified geographic hotspots in Jefferson and Calhoun Counties where more cases occur.

Dr. Demmitt hopes more research can be done so one day the birth defect can be prevented.

"Is it genetic, is it environmental, is it a combination of those two?" Demmitt asked. "It's hard obviously to alter genetics, but if there is some sort of environmental exposure to this that we can eliminate that would be outstanding."

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