Ultrashort segment Hirschsprung's Disease

Hirschsprung's Disease
#1

Hello,

My four year old son had just been diagnosed with ultra short segment hirschsprung and rectal achlasia after 4 years of struggle. He has had problems since birth with rabbit pellet stools, no meconium, and severe reflux that required surgeries. We had a biopsy on 11/10 that said he did have the ganglion nerves. they did botox injections and they were unsuccesful. He had a barium enema, and then they gave us this diagnosis.

I would like to get any insight on this as there isn’t much online about this type of hirschsprung. They are referring us to Cincinnati Children’s Hospital as they did not have any experience with this. He is being admitted to Duke for 3 days to have his bowels washed out as he is blocked form the top. He will then be referred to Cincinatti. Any advice or thoughts about Cincinatti as well as this disorder. thank you

Selena

#2

Hi @indesign18 !

I have a 5 yr old son with HD. Unfortunately, my son has long segment Hd. he was diagnosed at 3 days old and has had 8 surgeries since then. However, he is “perfect” now. He takes no meds and has 2 bm’s a day. I am writing u bc we “lived” at cincinnati children’s. (still go 3 times a yr) Let me reassure you that they are the BEST!!! The GI dept there is so fantastic. My son actually looks forward and even asks to go see his drs. there. do you know the name of the dr you will be seeing yet? Let me know, and I will try to prepare yo and answer any questions you might have about it. Hope to hear from you soon. (by the way, do you live around cincinnati?)

Thanks, chrystal

#3

Thank you @Chrystal for responding, we are still trying to get the appointment. Do you recommend anyone?

I don’t anything yet about the hospital there but here Duke they were the best for this type of disease. I live in raleigh, NC and have never been to Cincinatti Ohio, closest I ever been is Cleveland were my aunt (deceased) lived. Anything you can share is appreciated. thanks so much and it is reassuring to hear your baby is doing so well.

thanks

Selena

#4

Hi Selena,

We just came back from Cincinnati where by son had his pull-through surgery (November 2007) for short segment HD. We were there for about a month (10 days in the hospital) and 4 weeks outpatient. We are now back in our country. The doctors and nurses of the Colorectal Center are wonderful! They are the best for colorectal problems and your child will be in very good hands. My son has hypermotility now (5 BMs a day, down from 12 after the surgery), but the doctor assured us that it will go down to about 2 or 3.

Clarisse

#5

Selena,
I would TOTALLY recommend Dr. Samuel Kocoshis. He is SO WONDERFUL! And his team of nurses and staff are outstanding. His nurse practitioner is Gheri Henesie and she has been the most wonderful support throughout our journey. I have called her about everything and she always calls me right back or answers right away. She has helped us with everything. I would so see if you can see them. Tell them Chrystal Snell recommended them. They will know who I am right away. It’s true that they are experts in HD. They seem to know all there is to know and have answers for everything. When you get your appt. let me know. I will fill you in on all you need to know about your first visit. Rest assured that your son is in good hands at cinti children’s. I will have your family in my prayers.

Chrystal

#6

Hi, my nine year old son also has rectal achalasia (specifically internal anal sphincter achalasia) we have been trying for 6 years to find some way to help him go the bathroom. He has had multiple tests and procedures which include a rectal biopsy that showed gangelion nerves also, 2 botox injections, a piece of his sphincter muscle cut out, (which worked until scar tissue formed) and now in a week an ace procedure. I have been looking for over a year to find someone to talk to that has had a child in a similar situation so that we could be support to each other. I wish you the best in Cincinnati, my 10 mo old nephew was sent there with a life threatening condition and he will be 5 yrs old in March and is doing wonderful Thanks to them! Good Luck and please let us know how he is doing.

#7

I have 2 sons with Hirschsprung’s Disease. My 10 year old with long segment , had surgery at 1 week old and has been fine since. My now 7 year old was diagnosed with ultra short segment at 2.5 yrs old and is a whole different story. He does not feel any sensation to have a bowel movement. Has any one experienced this and is there a reason why? Is there a way to fix this? He has been like this for4 years. He just goes on potty everyday and makes himself go . It’s soft. so thats not the issue. He had anorectal manometry a few years ago and his internal anal sphincter does not work which is common with HD kids. I havent heard of anyone having this no sensation to have a bm and would like any info if its out there! thanks!

#8

Hello.

My son (5 and a half) has total colonic HD. He does not have the sensation in his rectum to have bowel movements, but has them in his belly. He has two times a day, (same every day) that he sits down for a bm. He does fine with it and has no complications to date. He sometimes will tell me his “belly is telling him” its time for another poo, and will go an extra time, but he does great.

Hope you sons are well.

Zachs mom

#9

Thanks for your response. Soetimes I think since my son is functioning and thriving well then I shouldnt pry for why he doesnt have the sensation. Other times , I think maybe theres answers out there. BUt for the most part I think if I put him through anything there may be consequences I will regret. So for now I guess I will"let him be"…thanks!

#10

Its actually a fairly common complication to have little or no sensation to trigger a trip to the bathroom. Some have trouble with feeling “something” thinking its gas only to find out that its not.

Sounds like you’re doing the right thing by having strict toilet training down now so that the bowel will be mechanically trained to eliminate at certain times.

Good work mom!

#11

Selena,

My son battled for years with the same problems (read our story). Anyways he just got dx w/ Hirschsprungs a few weeks ago and he is 4.5 yrs old. He had 25% of his colon removed (I assume that is considered short??, not ultra short but still short). We live in California so I can’t give you advise on doctor where you live but I read good things from others about that area.

Best wishes. Please email me anytime. I am starting to feel alone in this because so many people got this dx with their child in infantcy. Eventhough they can relate it is different because my child is much older and at a different level then their child was.

We had the colon removed, colostomy placed and are waiting to heal before the pull thru procedure.

Janel

#12

@indesign18 I know this is an old post, but would you mind telling me what happened at the Cinncinati clinic?

My son was diagnosed with Ultrashort Hirschsprungs a couple of months ago. Since his biopsy, he’s been able to pass bowel movements on his own. We think maybe the dilation helped, but lately it seems like whatever helped is wearing off, and the doctors want to start moving toward surgery. Botox, myectomy, myotomy. We’re in Germany though, and I don’t know if the doctors here are following the research coming out of the US or not.

My brother was actually diagnosed with Hirschsprungs and treated at the Cincinnati clinic 44 years ago so I’ve always known that they were the pioneers and would like to know what they recommended for your child and how everything has turned out.

Thank you

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