Shortly before Amanda went for her routine 20-week ultrasound, however, she had been watching a show on the Learning Channel about babies born with birth defects. So when her obstetrician told her what the latest ultrasound revealed, she recognized the medical term: gastroschisis.
Gastroschisis, a birth defect involving the abdominal wall area, causes the fetal bowel to extend into the amniotic fluid space through a small opening in the abdomen. The herniation can cause the unprotected bowel to be damaged during delivery. The bowel also may not function well after birth.
"I was devastated," says Amanda. "I cried and cried. I had just seen the show about another baby with the condition, and I was a wreck."
Research leads to CHOP
As the doctor provided further details about the condition, Amanda unsuccessfully tried to take it all in. She was told she would need a specialist, and a local hospital was recommended. When Amanda toured the NICU there, however, she was underwhelmed. "I just didn't like the atmosphere, or the matter-of-fact staff."
"My husband was calmer about the situation," recalls Amanda, "because he had a heart defect repaired at 4 months old. He is big and healthy now, so he didn't think our baby's surgery would necessarily be too difficult. But I cried for three days straight after the diagnosis."
When Amanda called her insurance company, she found a case worker who was helpful and reassuring. The opposite was true when Amanda visited her regular obstetrician. She was told not to bother with Lamaze or other "natural" birth classes since her pregnancy wasn't normal.
Another call to Michael's father, a physician in New York City, gave them more hope. He did some research, and determined the best surgeon for gastroschisis repair was at The Children's Hospital of Philadelphia's Center for Fetal Diagnosis and Treatment. As the couple met with the Fetal team, toured the Newborn/Infant Intensive Care Unit (N/IICU) and talked to the nurses and even other families, they made a quick decision.
"This is where we have to go," says Amanda. "They will care about me and my child."
Back on track
The Fetal team recommended that Amanda continue with her pregnancy as normally as possible, including attending Lamaze classes.
"They put me back on track right where I wanted to be, especially as a first time mother," she says.
Amanda had been told that one day during her pregnancy she would sense a change. It did occur — during her 38th week, she woke up and the baby wasn't moving normally. She went directly to the Hospital of the University of Pennsylvania, next to Children's Hospital.
Emma was born on Feb. 16, 2004. Although she had most of her small intestine outside of her abdomen, she came out crying lustily and looked up at the lights. She was taken immediately to Children's Hospital's N/IICU where her intestines were covered in a special wrap.
Within seven days, her intestines were "reduced" — returned to her abdominal cavity. On day nine, the incision was closed and a belly button created. Feedings began and Emma tolerated breast milk via NG tube for a few days; and then things changed for the worst.
There was failure after failure as Emma continuously threw up her breast milk feedings. And since Emma’s nutrition was primarily maintained via IV, bile started to build up in her liver, a complication of the long-term IV nutrition. She became jaundiced. "She was bright yellow; it was horrible," says Amanda.
Finally, the doctors found a formula the baby could tolerate and she began to have success with her feedings again.
Headed home with some challenges
After 3 months and 1 week — Amanda's entire maternity leave — Emma went home. A professional nanny allowed Amanda to return to work, although she closely monitored every feeding with Emma's special formula and the four medications she was given. "It was a painful time for us all."
Since Emma digested food slowly, she had frequent episodes of gastrointestinal reflux that sometimes led to her aspirating liquids into her lungs. The result could be pneumonia or other breathing complications, for which she was hospitalized several times. Winter 2006-2007 was the first that Emma made it through a winter without hospitalizations, her mother recalls.
Without a sucking reflex from her early days of receiving IV nutrition, her speech has been affected, for which Emma receives speech therapy. Her taste buds also may have been affected as a result of the special formulas she was given, but the end result of that is simply a desire for spicy rather than baby-bland foods.
"Most people who see her wouldn't know she spent the first 14 weeks of her life in a hospital," says Amanda. "She can keep up with anyone."
Princess Emma — always on the go
Now 3-year-old Emma loves to ride her bicycle, do 72-piece puzzles, mother her baby sister, and dress herself in pretty outfits.
"She has a strong, deep voice and a vibrant personality," says her mother. "They call her 'princess' at day care. But she is very sweet natured, and will even play mother to me with her little hands on my face if she thinks I am sad."
Amanda says she will never be able to sufficiently thank Children's Hospital for their care of her first born.
"The Fetal staff was incredible, and the N/IICU nurses amazing. I'm so grateful that they saved my child's life. We will never forget them."
Originally posted: June 2009