Baby Hirschsprungs Disease Investigation

[PurpleRayne89]

8 month old struggled to pass stools since 3 months. Has gotten progressively worse since weaning. Can’t poop without Movicol. On 120ml a day which is 2 packets. Max dose for under 2-years old. Hospital appointment at paediatric gastro clinic today and they suspect HD as the constipation with the regular explosive poops. They will speak with surgeons to discuss next steps and contact me within 4-weeks. I pray he doesn’t have HD but my gut tells me he does.

anyone with similar experience whether you have HD or a child diagnosed. Need some information and what to expect. Also, outlook? If he were to have surgery, could he live a normal life following this without constipation?

thanks in advance x

Yes. And was much worse than yours, at 8 months he was on up to 8 sachets of movicol a day and still didn’t pop, we had to take him into Irish once every 10-14 days for an enema to clear him out. We spent so much time in hospital. Had an iI to take a biopsy for HD and clear him out, then they put him on erythromycin s as a last ditch attempt to get things working, and suddenly at 13 months it all got much better.

He’s now 13 and fine.

we were told that HD is only likely if they’ve never pooed, if they have and then develop constipation it’s likely to be something else

Irish = hospital

Thank you for responding and sharing your experience. I’m happy to hear it all worked out and now your son is a healthy and happy teenager. Do you think it was the erythromycin that made the difference? Isn’t that an antibiotic?

im just worried it is HD. Its just the explosive poops and the constipation that are the red flags at the moment according to the consultant.

Babies can have HD and still poo, they will likely do a biopsy to test for it.
I only ever seen newborns diagnosed with it and they have daily bowel washouts until diagnosis. If diagnosed they have surgery to cut out the affected piece of bowel.

@SausageDogNamedBrenda i think they’re going to start with the enema to get a picture of his bowel then if that indicates a problem they’ll then move onto the biopsy. That’s the impression I was given but I have to wait and see in a months time. What’s your experience with HD?

@PurpleRayne89 that's sounds right.
I'm a neonatal nurse so see it at its early stages when the babies are first diagnosed.

I was born with Hirschsprung's disease (over 40 years ago); I couldn't poo at al when born. I know I had a barium meal plus x-ray followed by a biopsy to confirm, but medicine may well have moved on.

I had surgery when I was about 10 days old, a colostomy initially, which was reversed when I was 6 months old. It's possible that surgery now may be one single operation - bear in mind I was very small, and completely unable to feed.

I do not struggle with constipation now, indeed rather more with loose stools. I have complete sensation and complete control, but do sometimes need the toilet urgently.

Happy to answer any other questions from the patient's POV.

@SausageDogNamedBrenda ahh ok, that’s interesting. Would you say that explosive stools are definitely a symptom and passing larger than normal stools? I mean, filling the entire nappy. Also, straining to poop even after passing a large stool?

@funkysheep thsnks for your input. I’m glad your interventions were successful. It seems as though not much has changed as you have just described current intervention for HD. I think as you were so young, they did the operation in 2 stages. It’s promising to hear that you haven’t had any significant issues.

@PurpleRayne89
No I wouldn't say passing large stools or having an explosive nappy is typical of HD. Most of the babies we care for pass little or no stool and are investigated as they pass no meconium in the first 48 hours, or have bilious vomits and enlarged abdomen.
As you probably know HD is a section of the bowel that has nerves missing so the stool doesn't pass through the colon. The damaged part of the colon is removed.
They do sometimes have a stoma for a while, depends on the severity of the damage.

@SausageDogNamedBrenda thanks. My son did pass meconium within 24 hours. The trouble started around 3-months. He would struggle but would pass 1-2 stools a day when he was EBF. When I weaned him, he just couldn’t go without intervention. In this case Movicol. When I stopped the Movicol; gradually dosing down. He only pooped once in the space of a week. So now he’s back on it; 2 sachets a day. At least it helps him to go I guess. However, he still struggled. He will poop 3 times a week minimum on or average 5 times a week. I guess it’s difficult to say whether it’s HD or not as he could potentially have a mild version of the disease. What are your thoughts @funkysheep ?

I'm not a medic, and I have limited experience of how HD presets if it's more mild. However a friend's father wasn't diagnosed until he was older - he was 6 (years old) when he had surgery. I don't know what symptoms he had, I'm afraid. I hope your appointment comes through soon so you can have some clarity.

I know HD can be diagnosed later but it is much less common. It does present much more commonly in males.
I'm not a Dr or an expert in HD but if I had to bet on it I would say your little boy doesn't have it.
I hope you get some answers soon x

@funkysheep thank you for your help on this matter. I really appreciate it. Perhaps someone in future will find it if some use. I will update in a months time on what happens next and the outcome of any tests he has. I know I found information scarce so I will do this for a future worried parent. @SausageDogNamedBrenda sane to you and I’m glad things worked out for you.

My neices was picked up when she was less than 3 weeks old she had an operation not long after. She couldn't poo on her own at all.

@PurpleRayne89 we doubt actually know. I’ve been diagnosed with ehlers daos and have chronic constipation myself as my gut just doesn’t move so they thought it was that and also his colon had stretched so much from holding in so much poo.

the erythromycin seemed to make him go (it’s an antibiotic but used off licence) and by chance he also caught noro from an older sibling and that literally was just enough to make his body figure out what to do.

we had to keep an eye until he was about 8 as he’d get bunged if he got ill but only had to give him enemas a few times (for a while we could directly admit him to the kids ward but then they allowed us to administer at home).

From what you’ve described only needing 2 movicols a day does make it sound unlikely, but they have to rule out HD just in case

I was looking after a kid last week that was diagnosed at 12. He must have been struggling his whole life.
Some babies have washouts, if they aren't effective enough. Some babies have a stoma until they are big enough for surgery. The parents can change stoma blind folded in their sleep. But really struggle changing their first few dirty nappies!

I think most do ok, but it is dependent on how much of the bowel is affected.

@ILoveMyLifeToday thank you for sharing. Poor baby, how’s she getting on today? How old is she? I hope your sister / brother are ok too.

@Matchingcollarandcuffs its mad isn’t it how our bodies work or don’t in this case. I do think they have to rule out HD. He’s been given a follow up appointment for September 1st so a while away now. Hopefully it rectifies itself by then. I hope he doesn’t have HD. However, I don’t know what’s worse having some idea of cause (diagnosis), or it being unexplained.

@Toddlerteaplease damn, 12? Poor thing. What were their symptoms do you know? Hopefully they’re ok and doing well.

I don't actually know. But I would assume severe constipation.

@Toddlerteaplease makes sense. My son, in addition to everything else I’ve mentioned does gigantic poops and still strains after. Surely there can’t be more!

Has your DS got any other symptoms at all? Could it potentially be CMPA (cows milk protein allergy) or another allergy eg gluten?
DD has CMPA, she was EBF as a baby (and reacted as the protein, whilst broken down, is still present in breast milk). She is now 8 and still has chronic constipation and is still on movicol.

DD had HD investigations she was on movicol and lactulose from about 4 weeks old. She even had a prolapse at one point ! She's had to have suppositories and an enema. By 4 she needed nothing they said she probably had an immature gut it's all fine so she tells me she's 8.