When my son was first diagnosed with HD (Hirschsprung Disease) I had never heard of it. In fact, it’s rare enough that most of the general public, and even a good deal of medical professionals have never studied or encountered the disease. I was desperate for information that I could understand…because my doctor’s explanations just wouldn’t sink in.

What is HD?

Simply put, HD happens when the lower intestines do not grow ganglion cells, the cells that are responsible for peristalsis, during fetal development. They simply do not grow. So that means that when a baby with HD is born, their guts don’t get the signal to pass stool. In some cases, the colon can be completely clamped down from day 1, meaning nothing is getting through. The result is loss of appetite, abdominal distention, vomiting bile, and basically getting really sick, really fast.

That is what happened when Jimmy was born in 2013. The moment he was born, he crawled up my belly and started breastfeeding – he was hungry! Within hours, however, he spit up a good quantity of milk(which can be normal). After that he would not feed at all. We were reduced to feeding him expressed milk with a dropper, carefully counting the number of drops he could keep down. As that number dropped from 10 to 4 to 1 (literally, drops!), as the nurses were still waiting for him to pass his first stool (called the meconium), and within the first 24 hours of life his vomit turned green (meaning bile), we knew there was a problem.

At eight months, we had one ultrasound, but it could not detect HD.

Suddenly, early on the morning after Jimmy was born, the doctors rushed in, grabbed Jimmy, and flew out of the room with him without telling us anything, except, “Your baby is very sick and he needs emergency surgery right away!” It didn’t help that the doctors were clearly panicked, as well.

Jimmy was hooked up to IV’s, secured in a bubble for transport and taken by Flight for Life to Denver Children’s Hospital Neonatal Intensive Care Unit. After many excruciating hours of testing, and waiting, biopsies and inconclusive results (no twisted intestines, no serious infections, etc.) finally we had a diagnosis: Hirschsprung’s Disease. The life saving surgery involved meticulously testing biopsied cells from Jimmy’s colon for HD, confirming the “ineffective” section, and removing it. When all was said and done, after 7 hours in the OR, the surgeons at Denver Children’s had removed 7 centimeters of his lower colon, and performed a relatively “new” procedure called a “pull-thorugh”.

Many HD kids still end up with a colostomy bag….

We really lucked out to have Dr. Stig Sommme, one of the world’s leading Hirschsprung experts, as Jimmy’s surgeon. He removed the sections of colon missing ganglion cells laprascopically through the anus and belly-button, and then pulled the remaining “good” section of the colon down toward the anus and reattached it there. So, mechanically, Jimmy has a normally functioning colon.

only moments in the world and already very sick

We also lucked out to discover that Jimmy had what’s called “short segment” HD as opposed to “long-” or “full-segment” HD, in which case HD kids must have the entire colon removed, and yes, the colostomy bag.

Challenges then, and now

I have written about our journey with Jimmy’s HD previously, and wanted to give a bit of an update:

The first year was busy with constant hospital visits, almost constantly on antibiotics for intestinal infections (because his colon still does not work at full capacity, so anything that gets backed up or slowed down in there can putrefy and become a virulent infection), ambulance rides, IVs, daily enemas…oh my gosh. Every dietary transition was terrifying – because there is no cut and dry list of what HD kids can and cannot eat, it’s really a shot in the dark.

I was also very busy during this time crawling the web for any and all information on this rare disease that affects 1 in 5,000 (mostly boys) in the US. My favorite source for all things HD (especially because it’s written by a HD mom!) is this site: Hirschsprungs Disease, it’s all about poop! – which has really become a mantra at our house. The daily poop report is way more interesting than the weather report, or politics, or anything else. (How many times? Consistency? Smell? Color? Explosive? oh my gosh…I never thought I would ever get so into the minutiae of bowel functions!)

This is Joey, his mama blogs about his amazing journey with HD at Hirchsprungs Disease.com

Now: many HD kids are on daily enemas, stool softeners, and highly restricted diets. These are far and few between for us these days. I’m not sure if this has to do with Jimmy just growing up (he’s 3 now), but I do believe strongly in the power of some simple home medicine to get us through:

• Short segment HD typically needs a HIGH fiber diet to help push things through, long or full-segment HD need just the opposite, LOW fiber so they can get as much nutrition out of their food as possible. With Jimmy, we do whole-wheat (gluten seems to be ok with him), daily children’s probiotics, healthy oils and fats (avocado, nut and seed butters, Cod Liver Oil), and nutritional fiber supplements mixed into his yogurt or oatmeal (flax, chia, bran, etc.) – DAILY!
• Homeopathics helped us to “wean” Jimmy from Antibiotic dependence, which led (inevitably) to Antibiotic resistance and a constantly, very sick kiddo. Because each kiddo is different, and each tummy infection is totally unique (back to all those amazing details about the poop!) you might need a different remedy every time, or you may have 2 or 3 remedies that are your go-to for rubrics like: “explosive diarrhea” and “smells like rotten eggs”…etc! Drop us a line below, and I’d love to help you find the right remedy for your HD kiddo!
• Unfortunately, discovering the do’s and don’t with his diet has been trial and error (which very often lands us in the hospital for a few days!). Here’s what works for Jimmy: no cow dairy, lactose gives him explosive, runny diarrhea. Cheese is especially bad, it slows things down, he doesn’t poop for a day and the next day it’s explosive, smelly, and liquid. Ugh. We do goat’s and almond milk instead of cow. Also, bananas and sugar are no-no’s. He get’s really hyper, irritated, and then constipated. No HD family can afford to “sit and wait” with constipation – ‘cuz, it’s all about the poop!
• Packing meals for school. We tried the prepared meals at Jimmy’s daycare, and it was disastrous. They really did try to accommodate his restrictions, but in the end, he’d have a slice of cheese, or a piece of banana, or God knows what else – and we’re right back at square one (and usually in the hospital).
• Potty training! This has got to be one of the biggest challenges for ALL HD families. Jimmy’s surgeon warned us not to expect him to potty train before he’s 5 years old (aaaahhhhh!) because as part of the pull-through surgery, part of the sphincter muscle was cut, so Jimmy won’t have the same control as everyone else. Well, guess what? He’s 3 years old, HD, and (proud mama moment!!) FULLY TRAINED! Oh yeah! Go Jimmy!

Somersaults on the couch! Go Jimmy!

Do you have a HD kid? Let’s chat! Turns out mamas are the resident experts on this disease and can tell you more about your poop than you ever wanted to know. 😉