Baby with a Big Belly (Diagnosis of Hirschsprungs Disease)

Thijs (Tyce) is our 3rd baby, so I don’t run to the doctor for every sneeze and cut anymore.  So when I started to notice our little guy’s big belly, I didn’t really react or even worry.  We were on the heels of a recent bout with severe jaundice, and I was just thankful he was eating and sleeping normally again–the belly was an afterthought.

Eventually, it kept occurring to me that maybe he wasn’t growing as quickly as I thought our other two had. Of course, who trusts the clouded memory of sleep-deprived mothering days gone by?  He was content, though rarely as hungry as I thought maybe he should be.  He was six weeks old and still fitting into his newborn clothes.  Progressively, it laid in my heart that maybe something was off.

Then my mom babysat for me one December night so I could take our daughter Aly to a concert. It was a long night and I got to her house tired and hurting from a headache, and my typical ability to filter incoming comments was down.  As I tucked Tyce into his carseat, Mom gently mentioned his belly to me, with a familiar edge of concern in her tone.  That night, for the first time, I worried.  I spent time on Google and meandered down really foolish paths, jumping all the way from my casually abnormal baby to pediatric oncologists.  The next day, I called the doctor.

We have very healthy kids who typically only need once-yearly well-baby checks and vaccination appointments. I manage colds and other childhood ailments from home and have never needed to branch into pediatric care.  I took Tyce to my favorite general practitioner.  She examined his growth and I was right–he wasn’t growing like my other kids had, though he was still in the range of low-normal. His development was on track as well–he was starting to lift his head and had begun to smile.  I wondered if I was foolish. IMG_0014_2

But that belly.  They asked if he was having regular bowel movements–but how do you answer that for a breast-fed baby? I remembered a phase in Aly’s infancy when she only went once a week. Was he fussy? No–rarely. But gassy?  Yes.  You could tap on his deformed little belly with a stiff finger and it sounded hollow, like a watermelon. You could see the ripples of enlarged intestine under his skin and sometimes it waved or changed form after he ate.  Sometimes it was alarmingly swollen; other times it seemed almost normal, except its shape.  After a good bowel movement, it would noticeably deflate for a while, and his appetite returned in force– each time, the belly slowly filling again until it was relieved in a violent diaper.

Hirshsprungs belly infant six weeks

These pants
These pants “fit” his belly before he filled his diaper an hour later.

The doctor ordered an ultrasound, to check his organs and intestines.  When that came back normal, they ordered another ultrasound, this time looking specifically at his pylorus. This, too, was normal.  During this time, I started leading each feeding with a dose of simethicone (gas drops) or Tummy Calm.  This seemed to improve his ability to process some of the gas in his belly and he pooped a little more often.  On the urging of several family members, I asked my GP if it was time for a referral to a pediatrician.  We both were ready for a second opinion.

Our appointment was prioritized, scheduled for the morning of Christmas Eve.  Nick was able to come with me.  The pediatrician took one look at his belly and called it “remarkable.”  We left her office with an order for a upper-GI and abdominal series of x-rays, which I scheduled on my way to our family Christmas.  The next available appointment was five days away, but the manager took pity on our little guy and got us an appointment for the day after Christmas.

The xray room was cold and sterile and intimidating.  I snuggled Tyce over my bulky lead vest, fighting tears and for once was thankful for his reduced appetite.  A compassionate tech quietly places a box of tissues next to me.  They hadn’t wanted Tyce to eat for his appointment, so it had been four hours–not that he noticed.  Nick and I helped prop him up for his initial set of standard xrays and then waited while the radiologist looked them over.  Then we would do his barium GI, during which we would feed Tyce contrast material in a sort of milkshake form through a bottle.

IMG_0016_2

I am so grateful that radiologist was paying attention.  One look at all the gas in that belly and he second-guessed introducing barium into his intestines, which were already backed up.  He called the pediatrician and after about twenty minutes, the doctors agreed to change his procedure to a barium enema.  I’m convinced this was a miracle on Tyce’s behalf–I know that barium in his belly could have made his condition worse, maybe urgent.

IMG_0017_2

It wasn’t long after that the radiologist pointed out what he thought was evidence of Hirschsprungs disease, a congential condition where the nerves in the colon do not completely develop.  Because of this incomplete formation, the colon is not able to properly propel food along its course, creating a kind of obstruction.  The treatment for this condition is surgical. As they removed the catheter from his bowel, large amounts of gas and stool followed.  I was relieved to have his bowel cleared, for whatever time that would buy us.

Twenty minutes after that test, the peds office was on the phone, for an afternoon appointment, where they referred us to Hershey for further treatment.  Nick went to work and Gramme (my mom) Eberly came with me to the appointment, which (Aunt) Amanda stayed with Aly and Dax at home.  Mom’s company was something I didn’t know I needed.  Her comfortable familiarity means I can talk if I want to, and not if I don’t. I can cry or be angry or sing.

IMG_0018_2 IMG_0019_2 IMG_0020_2

Ironically, after that test, Tyce has been noticeably less content. For the first time, he seemed to mind the mounting gas in his belly and was fussy for much of the time he was awake.  Also his sleep for the first time seems more disturbed and his cry indicates pain. It is sometimes agonizing.  At the moment as I write, I am praying for a diaper relief, as he is very uncomfortable with very little appetite.  When he doesn’t eat, it compounds my story, as I need to pump to maintain supply.

Next is a bowel biopsy, the final step to confirm Hirschsprungs.  This will be scheduled as soon as possible.

I decided to blog this because I thought it might help someone.  I didn’t find much more than clinical sources for Hirschsprungs during my internet research; I thought in the future, maybe parents encountering Hirschsprungs with their children might find help or comfort in our story.

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9 thoughts on “Baby with a Big Belly (Diagnosis of Hirschsprungs Disease)”

  1. Hi Diane, My friend Anita Zeiset pointed me in your direction. My son had Hirschsprung’s disease which was diagnosed and treated this year. I wrote about our journey through it on my blog but it isn’t working right now. Anyway, I’d love to chat with you if you’d like. We also were taken care of at Hershey. I’m on facebook, so I’ll send you a friend request. I hope all goes well with your baby boy. It’s draining seeing your little on go through all the medical procedures, but they definitely take good care of their patients!

  2. Diane- I saw this through a couple of our mutual friends on Facebook. I hope you remember me- I work at Keystone. 🙂 I also know your mom. Just wanted to share that I am praying for you all. In my nursing school peds clinicals one of my very favorite patients was a beautiful, bubbly 15 year old with Hirchsprung’s. She was happy, healthy, and a super soccer player. Please know I’ll be praying!

  3. Diane you are such a phenomenal writer. You are so blessed with many talents. I didn’t know about all this until I saw what Nick said on fb. Please know I’m joining others in prayer for Tyce. I pray for healing for Tyce and wisdom for the doctors and strength for you and Nick. Love you woman of strength.
    Janeen

  4. Thank you so much for your story about your son, my son is 14 months and he is scheduled for a Barium Enema tomorrow morning. My husband and I have been having issues finding out what’s going on with my sons bowels for about 4 months. He has the big belly, has trouble pooping without medicine, which still doesn’t work. I pray that we know something tomorrow. Thank you so much for talking about your little guy!

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