Son Getting Biopsy Testing for Hirschsprungs Disease

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You poor thing and your son I feel so bad for both of you. I have never heard of this although a cousin of mine might have had it she had some kind of surgery due to issues with not going poop in the potty too. My heart goes out to both of you and I hope you get some answeres and relief for your son and yourself. Hugs and prayers going out to you both.

Wow, I am so sorry on so many levels for you and your son.

First, why did it take so long to get this far in the diagnosis phase? I am baffled by the doctors allowing his digestive and constipation issues go on this long.

Your son presented with all the classic symptoms of having Hirschsprung's, from all that you describe, from very early on.

To answer your direct question, given what your son has already endured, having the colon biopsy will be a piece of cake to recover from.

The biopsy will be looking for the absence of nerve ending in the colon. It is due to the lack of nerve endings that has caused your son to not recognize the urge to poop. Given the severity of your son's symptoms, it should be pretty straight forward for the pathologist to interpret the biopsy. When the symptoms, such as you describe, are mild, there can be a false negative report. Meaning, the this congenital defect is present, but the biopsy was not large enough of a sampling to detect it.

When you have the results, and both a diagnosis and treatment plan are in place, I would ditto Dawn's advice below about informing the school district of the inappropriate and unprofessional care received by this school nurse.

I imagine if your son is indeed diagnosed with Hirschsprung's then, you will have a long, complicated future of corrective surgeries. But a happier and healthier future too. There is usually a two phase surgery. First one to remove the non-functioning colon. After that heals, then a re-sectioning of the functional colon to the rectum. This means it is possible that your son might have to wear an external bag. Might not if they can perform both at the same time. But honestly, this information is way ahead of where are you are right now.

I would highly recommend you find and join a local support group for this right now. It will be a huge comfort and blessing to meet other parents have been there and done that.

Again, I am sorry for such a delay in getting treatment for something that could have been averted years ago. This goes to show how overworked our primary care doctors are. They are required to see a patients every 15 minutes....how can one practice medicine in such a small window of time? Especially with complicated symptoms such as these. It's all too easy to think the parents are causing the constipation, as is unfortunately quite often the case. So I am sorry that you suffered also at this ignorant level.

Best to you.

It can take a very very long time to diagnose these things. My dd does not have Hirshsprungs, but she had secondary megacolon, which is very similar. Do not blame yourself, or feel like you've missed something or could have done more. It is so confusing.

As for the biopsy, my dd was a few years younger than your son, but the biopsy itself was not bad at all. We were told that the intestines sense fullness and movement, but not touch. She was annoyed at having to lie still, but that was it. When they told me they were going to take a slice of her intestines I was so nervous! But then I watched, and she didn't even flinch. She did feel the biopsy tool inside her, but it's so narrow and precise that it was not uncomfortable. I hope that reassures you some.

My dd had the manometry too, and her story is very very similar to your child's. The tests, the xrays, the barium, the enemas, the pain, the medicines, the laxatives, the lack of understanding on the part of some professionals, the disappointments .... we did it all.

One thing that helped tremendously: our GI specialist told us to immediately eliminate: apple products (juice, sauce, fresh), purple/red grape products, pear products and anything sugar free. Read every label. I know that many people say those things can cause diarrhea, but in our dd's case it caused severe constipation, and intestinal atrophy and spasms. We read every label and do not have any juices with apple, pear, purple grapes or artificial sweeteners (sorbitol, xylitol, mannitol). White grape juice is good. You might consider trying that, since it's quite easy. Less than one week after eliminating all those foods, we saw a difference in her pain and discomfort. It wasn't the cure, but it certainly was much much improved! Warning: even juices like "kiwi strawberry" often have apple as the first ingredient, so read the fine print carefully. We often felt pretty weird being just about the only parents in the grocery store looking for the stuff with sugar, not sugar free.

Stay calm and know you're doing the best thing for your child. I'm glad he's seeing a psychologist. We took advantage of that too.

My nephew was born with Hirshbraun's disease. He never went poop by himself. His poor tummy was quite distended most of the time and he was often uncomfortable. His parents had to stimulate him with a q-tip (which is uncommon to be effective with Hirshbraun's, but was for him). His parents did a lot of research, and the hospital gave him a lot of info, and from that, it sounds to me very likely that your son could have it too.

I don't know all the details of the biopsy, etc, because he's my nephew rather than my own child. I do know that it was not too intensive, either outpatient or home the next day. It was confirmed that he had Hirshbraun's and he had a colonostomy when he was between 7 and 8 months old. He had an ostomy bag for a few months then they did a "pull down" surgery and connected the end of his intestine to his rectum. These surgeries were more intensive than the biopsy, of course, and he spent several days in the children's hospital after each. But since then, he has been very healthy and happy. He hadn't started crawling because of his tummy and then the bag, but one it was all over he caught up quickly and walked about the same time as his older sister did (14 months or so). He had "incontinence" issues with pooping, going often and irregularly, like a newborn, but was still in diapers. He's not quite 2, so not potty trained yet, and I can't tell you how it affects that.

I know I may not be answering your immediate questions. But I want you to know Hirshbraun's is a very treatable disorder, so even though things are hard (and probably will be for the next few months as he goes through all the procedures) in the end, it'll be okay. Hang in there!

Hugs to both of you!