My first and only child Mason was born on October 26, 2009 after an uneventful pregnancy and birth. He passed his first meconium within an hour after birth and was a great eater. He was breastfed exclusively until about two months, when we introduced one bottle of formula at night. I noticed a slight decrease in the amount of stooling, but nothing that caused any concern. He went normally, and didn't seem to have any trouble at all.
At around 4 months, we started him on two bottles of formula a day, and we noticed some constipation. My mother told me that I had also had issues with constipation as a baby, so we didn't think much of it. Mason was a very large, happy baby in the 90% percentile for weight and height, so the doctors had no need for concern. We switched his formula and started him on lactulose, thinking that would solve the problem.
Eventually, Mason started to have more and more issues with constipation, sometimes going up to 8 days without a stool. He still, though, was large and happy and would smile at the doctor's office. They kept assuring us that this was a problem he would outgrow. We continued to be proactive with his eating, giving him prunes everyday and switching him to miralax. Still, however, he had issues. Soon, he didn't seem as interested in food. At around 7 months, he began gagging on some foods that he had loved before. Again, I brought him to his doctor, and she told me that he was just a "gaggy" baby. We started to realize that he was getting sick monthly with vomiting and fever, and after finally stooling he would be back to normal. I continued to bring him in and discuss this with multiple doctors, but they kept telling me that he was just prone to vomiting and that whenever he got any sickness, he would vomit.
Even though this was my first baby, I knew this vomiting so often was not normal. Finally, at 10 months old, Mason got very sick again with vomiting, but this time he wasn't getting better. For a week we were forcing him to eat and drink, only to have it come back up again. I bypassed his regular doctor and just took him to the Emergency Room, thinking he would need IV fluids and then released. Well, this is where we finally got some answers.
The Paediatric Emergency Doctor finally took some interest in the cause of this issue. He ordered an x-ray that came back odd – he said Mason's stomach was totally full of gas, and this was not normal. He then ordered a CT scan to get a better look. When that picture came back, he said that it wasn't Mason's stomach at all – it was his bowel swollen up over his stomach and it was full of stool. The only thing he'd ever seen to cause this was something called Hirschsprung's Disease, which we had never heard of! My husband and I looked at each other in terror, especially when he mentioned surgery. They called for an ambulance and transported us 40 miles up the interstate to Johns Hopkins Hospital in Baltimore, MD. We were confident that Mason was being treated with the best care, but it did not make the situation any easier.
I had never been in the hospital myself, other than to give birth, so the situation was very odd to me. At Johns Hopkins, the doctors were less confident to tell us he had HD, instead wondering if it was chronic constipation because he was so large. Finally, they admitted him to inpatient simply to give him IV fluids. When the pictures from our home hospital finally made it to Hopkins, they too seemed pretty certain of his diagnosis. They immediately ordered a PIC line, anal tube to decompress his bowel, and an order for a suction biopsy. It was definitely a scary time for us, but I was happy to finally get some answers and not hear that he was “just constipated.”
When the suction biopsy came back, it confirmed that he did indeed have HD, and believe it or not, we were happy! We knew that HD could be treated with surgery and had relatively positive outcomes, so we were anxious to get this over and behind us. Unfortunately, his bowel was so swollen from all the months of not stooling properly that he needed a colostomy for three months to allow his bowel to rest. This was not a part of the journey that we expected. My husband and I were very nervous to deal with the bag, but when Mason came out of surgery and sat up three hours later, we could tell that he felt better! The doctor later told us that she had never seen a child sit up that soon after a colostomy surgery; Mason was tough, and we knew he'd make it through this bag ordeal just fine.