Short bowel syndrome
A month before he turned 2, Alex Malo became the first patient to have a STEP procedure, an innovative bowel-lengthening operation invented at Children's...
Our experience at Children’s Hospital Boston began on Christmas Eve 2008, eight days before our daughter was born. We had a “concerning” ultrasound at 20 weeks gestation and the follow-up at 30 weeks revealed that our daughter had some kind of intestinal blockage.
We were referred to the Advanced Fetal Care Center at Children’s. Originally, our appointment was just for a fetal echocardiogram, as intestinal blockages often come with heart defects and I had been born with a minor heart defect. We were to have a more extensive appointment two weeks later to discuss the outlook for our daughter in more depth. However, following the fetal echo, the nurse asked us if we would like her to see whether a doctor could talk with us right then. Even though his coat was on and he was heading out the door to spend Christmas with his family, Dr. Russell Jennings turned around and spent 15 minutes talking with us about possible outcomes. He was honest, friendly and upbeat. We will never be able to thank him enough for those 15 minutes.
A week later, on New Year’s Eve, I was in considerable pain and called my obstetrician. In spite of only being 32 weeks and 5 days pregnant, I was as big as I should have been at full-term. We were sent immediately to Brigham and Women’s Hospital where I was admitted for betamethazone shots and observation. The next morning, my water broke and less than two hours later, because I was hemorrhaging and the baby’s heartbeat was becoming erratic, I was rushed into the OR for an emergency C-section.
Blaise Ursula Conwell Balas was born at 10:47 AM on New Year’s Day 2009, seven weeks premature, weighing 3 lbs., 14 oz. She cried immediately, which was very reassuring.
Unfortunately, she was not as perfect as she sounded. Her belly was distended and bruised looking. The Brigham staff contacted Surgery at Children’s and Dr. Christopher Weldon came over to examine Blaise. He decided to operate immediately and our family had its second emergency surgery of the day. That decision, without question, saved her life.
During surgery, Dr. Weldon discovered a giant meconium cyst in Blaise’s small intestine. Because this cyst was so large, it had cut off the blood supply to the rest of her small intestine, most of which was dead. The extensive amount of dead tissue made it difficult for Dr. Weldon to explore further without jeopardizing Blaise’s life, so he made the decision to create an ostomy, which would divert waste away from her intestine; place a gastric feeding tube; and insert a central line so that doctors could administer necessary medications. At the end of her surgery, she had 10–12 cm of healthy intestine available to her, a length her doctor described as “not compatible with survival.”
Blaise spent 26 days in the wonderful care of Children’s Neonatal Intensive Care Unit before being transferred to 10 East, the amazing Infant/Toddler Surgical floor. She was on full IV nutrition (TPN) because she did not have enough intestinal tissue to absorb nutrients from food. Unfortunately, the fat source typically used in TPN is known to cause liver failure in children.
Enter Dr. Mark Puder and Omegaven. Omegaven is an alternative lipid derived from fish oil that prevents and may even help improve TPN-related liver disease. Although it is not yet approved by the FDA for pediatric use, Dr. Puder has permission to use it as part of a clinical trial. As soon as Blaise’s liver began to fail, she was switched to Omegaven; within weeks her liver function had rebounded to normal. Had it not been for Omegaven, we would probably have had to put her on a transplant list. Current survival rates for small bowel/liver transplants are 50%; survival rates on Omegaven are 98%. The choice was obvious.
After 3 months of healing, growing and winning over all of her nurses, Blaise underwent a second surgery, this one to connect what was left of her small intestine to whatever large intestine she might have. In a truly extraordinary outcome, Blaise came out of surgery with her entire large intestine intact and more than 3 times as much small intestine as she was expected to have.
We began the process of weaning her off the TPN and onto breast milk and formula. It took a while, but by May 25, she was receiving all of her nutrition from these “normal” sources (through her g-tube, mostly, but it was better than the IV). Finally, on May 28, 2009, nearly 5 months after she was born, we welcomed Blaise home.
Our journey at Children’s didn’t end there. Short bowel syndrome is a permanent condition requiring long-term monitoring and treatment. We go see our friends at the small bowel clinic every six weeks or so. We make adjustments every time. Currently, Blaise is off tube feeding and gets all her food from bottles, meals and snacks. She is learning to walk, says several words and loves books and graham crackers, just like an ordinary toddler. Anyone who doesn’t know her story would never guess how extraordinary she is.
-- Erin Conwell