Charlie's Intestinal Malrotation Story
Charlie was born on April 12th after a very uneventful planned c-section. Our first son had been born via emergency c-section, and I hadn't remembered much from his birth. With Charlie, we had a solid plan for a "gentle" c-section which included things like a clear drape and skin to skin in the operating room. Just as I had hoped, Charlie’s birth was a great experience and we were in our happy little family bubble in the hospital.
Charlie appeared to be healthy initially, but we became worried when he had failed to pass his meconium 48 hours after birth. My mother’s instinct knew something was wrong, but the hospital staff kept telling us not to worry. They felt that Charlie was just slow to go because of the c-section. They finally got him to pass a small amount of meconium with the help of a suppository, since it wasn't a ton we decided to request an extra night at the hospital. Charlie still didn't go on his own the next day, so they gave him another suppository. This time he passed a larger stool, they decided that was good enough and discharged us without any further testing.
After being discharged from the hospital Charlie slept seven hours a night; highly unusual for a breastfed baby. He was not gaining weight properly despite an abundant milk supply. He passed very few stools and had a big distended belly. The most unusual part about his distended belly was that it was all on his upper right side and would come and go. He also spit up a ton. His spit up was pretty much always light yellow and seemed like a "normal" amount.
Charlie was our second child and we knew that something was off, but it took a while before we were taken seriously. We brought Charlie to the pediatrician constantly his first month of life and were told over and over that he was fine.
At four weeks old, Charlie developed bloody stools. It started with specks of blood. We brought him to the pediatrician and they did an occult blood test which came back negative. Over the next few days his stools changed, they consisted of green mucus and were large, explosive and foul smelling. I tried cutting all allergens from my diet but every stool remained bloody or mucousy. We demanded a GI consult, and in what felt like an effort just to shut us up, our pediatrician finally agreed.
The GI didn’t suspect anything more than a milk protein allergy. Because Charlie’s spit up was increasing and we insisted that something wasn’t right, he agreed to schedule an upper GI to rule out pyloric stenosis and GERD. He kept saying that nothing struck him as an emergency, but we would run the tests to get a better idea of what we were dealing with. He felt pretty convinced Charlie had a milk protein allergy and I felt a little calmer due to the GI’s reassurance.
Several days later Charlie started projectile vomiting. The first time it happened I had just finished burping him before bed. He was resting in my arms when suddenly, out of the blue, he started projectile vomiting. It was so forceful it came out of his nose. He kept coughing and we would suction him, then he would scream and we would suction him more. It took over an hour to calm him down.
We called the on-call doctor at our pediatrician’s office and were told Charlie’s projectile vomiting was not something to worry about. They suggested we wait for his upper GI testing which was scheduled for the following week.
Over the next few days Charlie continued to have episodes of projectile vomiting with some of his feeds but then he would do okay on others. He also had several more crying fits. Charlie had slept with an owlet monitor from the day we brought him home. He had always had good oxygen readings in the 98-99% range, but as he slept the night before his upper GI series he had a dip of oxygen in the low 90s for about 20 minutes.
The next day as they began the upper GI series, the radiologist and tech both became quiet. I was pretty familiar with what an upper GI should look like since I had been dealing with Crohn's for 17 years, and I could tell something wasn’t right. I got really scared when moments later the radiologist and tech quickly left the room.
When the radiologist returned I expected them to say Charlie had pyloric stenosis since it ran in my husband’s family. Instead, he dropped the news that Charlie had intestinal malrotation. The radiologist said Charlie’s upper GI showed evidence of a volvulus and they had just called the surgical team who was now on their way. I had never heard of intestinal malrotation or volvulus before. As soon as the radiologist left the room I googled it and realized how serious the situation could be.
My husband rushed to the hospital while I met with the surgical team. They said we were dealing with a potentially life threatening emergency situation. They didn’t know what they were going to find when they went in for surgery and explained it could be anything from a simple Ladd’s procedure to a complete volvulus with bowel resection. They also said it could be deadly in a small percentage of children. I couldn’t understand much of that initial meeting. My brain just went numb.
The next hours were a blur. We waited and prayed for a positive outcome. We were absolutely terrified at the thought of possibly losing our baby. We were also very angry that we had lost seven weeks fighting with doctors when Charlie’s intestinal malrotation could have been discovered if he had been tested in the hospital at birth when he failed to pass his meconium.
After what felt like an eternity, Charlie’s surgeon came to update us. They said his surgery had gone well. His small bowel was only partially twisted, and therefore the blood supply had not been completely compromised. In addition to his malrotation and partial volvulus, they found that Charlie did indeed have pyloric stenosis. His pyloric stenosis may have saved him from a full blown volvulus since it became symptomatic first. Charlie’s surgeon had proceeded to do both a pyloromyotomy and the Ladd’s procedure.
After surgery, Charlie’s surgeon felt he would not have any further issues and would live a completely normal life. We left the hospital a few days later thinking the nightmare was behind us.
Unfortunately, as the weeks went on many of Charlie’s issues continued. The mucus and blood in his stools were still very present, he had no weight gain and excessive vomiting. His vomiting was not as forceful as it had been, but still occurred several times a day. Our baby was clearly still very sick but none of our local doctors or specialists were able to help. Charlie’s surgeon released him saying his symptoms were unrelated to surgery. Charlie’s GI kept saying that Charlie had a big surgery and his body needed time to adjust, he also said we were just dealing with a "laundry problem" with all the vomiting. It was extremely frustrating that all his doctors were comfortable with the "wait and see" approach.
We switched pediatricians to a new practice where we found a very supportive provider. She began weekly weight checks and did blood work that indicated Charlie was showing signs of dehydration. Before Charlie’s surgery he had taken a pacifier, the breast and the bottle. After Ladd's he started refusing the bottle and pacifier. As his vomiting persisted, he became so resistant he would gag every time they even touched his mouth.
I was becoming desperate for help. I spent hours online reading and trying to find answers for Charlie’s symptoms. I finally came across the incredible team at Boston Children’s hospital. Within hours of reaching out to surgeon Dr. Mark Puder, we started the long process of insurance approval to have Charlie seen in Boston. Dr Puder felt that Charlie would be in the best hands with gastroenterologist Dr Ali Carey, since his issues were mostly non surgical.
Three months after Charlie’s initial Ladd’s procedure, and weeks of insurance battles for out of network care, we were finally ready to travel to Boston. Charlie was five months old and had severe failure to thrive, weighing only 12 lbs.
When we finally made it to Boston, Charlie was in metabolic acidosis from all the fluid loss. Boston Children’s Hospital admitted Charlie for a two week hospital stay where he underwent numerous tests and was started on nasogastric feeding therapy. The first thing they wanted to rule out was Hirschsprung disease due to Charlie’s distended colon and initial delay in passing his meconium, they performed an anorectal manometry which came back negative. They also redid the barium studies, with a full small bowel follow through and a barium enema. It was found that Charlie had slow motility and a redundant colon.
Over the course of the following months Charlie was diagnosed with food protein induced enterocolitis syndrome (FPIES) and GI dysmotility. It was hard for Charlie’s doctors to know exactly how things happened since they weren't the ones who did his initial Ladd's procedure, but they felt Charlie’s seven week delay in diagnosis could have caused his colon to become distended. They said with the state of enlargement and nerve damage in his colon even several months later it was likely that his intestines had been intermittently twisting before his Ladd’s procedure. In addition to FPIES and GI dysmotility Charlie’s inability to take a bottle was also diagnosed as an oral intolerance which had developed as a result of the frequent vomiting.
Charlie had a gastrostomy tube (G-tube) placed to help deliver nutrition directly into his stomach. He's no longer failure to thrive and he sits around the 15th percentile for weight. He’s been working really hard in occupational therapy to overcome his oral intolerance. Most of his therapy involves food, different textures and temperatures as well as tools like textured spoons and mesh feeders. When we started occupational therapy Charlie wasn't even able to swallow thin purees, now he takes purees just fine and is working on solid food.
The last year has been exhausting physically, mentally and emotionally. One thing that really broke me was the fight with insurance. Having to constantly fight with insurance and have care Charlie needs be denied and then having to appeal and file grievances and such has been extremely hard. I'm emotionally feeling better now that he's stable but for months I was living with the fear of losing him. He was so thin and sick when we got to Boston that I was scared of what they were going to find. We are very fortunate to have an excellent team in Boston as well as our pediatrician locally. Just recently we were in Boston with Charlie and since he's still having blood in his stools we were discussing the next steps in testing. Charlie’s doctor wanted to wait to do a colonoscopy, mostly to see if he improves on his own, but she said one thing that really struck me. She said "if your gut feeling tells you something is wrong, we'll push for more testing sooner." I really felt understood and supported when she said this. She didn't make me feel like I was a crazy overreacting mom.
Charlie just turned one last month. He’s had a very limited diet due to his FPIES, but the biggest gift we got for his birthday was seeing him reach a “normal” milestone when he tasted his specially crafted smash cake. He still deals with many challenges as a result of his intestinal malrotation but nothing can take his contagious smile away. Charlie is still under the care of the incredible doctors at Boston Children’s hospital and we are hopeful that he’ll grow up to live a healthy life.
If you would like to share your experience with intestinal malrotation, please send us an email for more information.