How hard was your diagnosis experience?

Hirschsprung's Disease
#1

Hello,

My daughter is almost 2 now, and we are awaiting the “official” HD diagnosis. Her problems have been since birth. She did not pass her meconium until the 4th day, and then it was with help. She also has apnea, where she stops breathing, and she had developmental delays which seemed to only affect her motor skills. She didn’t even walk until almost 19 months old. Her intelligence level however is above average, so that seems to not be affected at all. Also, she is now seeing an orthopedic surgeon about her legs, because they are starting to deform now that she is walking…

She cannot pass stool on her own, and her medications/suppositories/laxatives are now not working as effectively as they should be, as she has been on them since birth. Also, she has just hit the 20 lb. mark, and although she seems happy most of the time, she is unable to eat certain foods because when she does, her belly swells so badly that we can’t even get a diaper on her, and she screams for hours on end, and there’s nothing that i can do to console her…I have taken her to the hospital and they send us home, with the excuse “you know how to treat her better than we do”…they have actually said that to me!!!
There is a new procedure where they want to actually use a tube to enter into her bowel when her belly swells, as a method of emptying her bowel, as she is not able to pass stool on her own, and her bowels are in danger of rupturing if they don’t get emptied out…(but even that they are hesitant to do…) She just about passes out, it takes so much out of her…even if her stool is soft…doesn’t make any difference…
She has had the barium done, and that showed a clear case of HD, however when she had her biopsy done, that came back normal…eventhough all her symptoms fit HD exactly…
I am just wondering if anyone out there has gone through the same thing…or similar, and how they got it resolved in the end, or at all…and how they got the doctors to listen to them that there was something wrong, even though they weren’t finding it…???

#2

Not sure if this helps but we found out that my son had minimal ganglion cells when we read his surgery report- not zero cells. I’d see a GI specialist and ask for a second opinion. Perhaps the section they took had cells but others may not. They took 3 samples when they did Chase’s biopsy.

Jo

#3

Hi @Shy

I can totally relate because this is what my son went through for 4 years. HD wasn’t even mentioned as a possiblity until 3 months before the dx and he too tested twice negative for HD with the rectal suction biopsy. But a full thickness biospy test + for HD 2 months later.

The procedure you talk about with a tube is called rectal irrigations right? This was something we did in the hospital while he was very ill and it is something we are occassionally have to do now only 2 months after pull through. It is not fun at all but something that needs to be done to empty the bowel.

If you don’t see one already go to a peds surgeon and ask him/her to go higher up in the bowel to bisopy…this is what had to be done to get a clear dx for my son.

good luck.
Janel

#4

Do not stop trying to get someone to listen to you. I knew our daughter had something wrong when she had blood in her stool. The doctor told me I was passing it through my breast milk. I told her I hadn’t breast fead for weeks. But she told me I was an over protective mother. So my suggestion is to keep knocking on a pediatricians door to get results. Because some just won’t listen.

My daughters doctor was Robert Foglia. He now is in Texas. He was on the board of directors for Hirschsprungs in the late 80’s and early 90’s. He did a wonderful job. If worse comes to worse look him up and call the hospital he is with. He cared for our daughter for 2 years.

Be persistant and pray. God will get you through this.
God Bless
Memec

#5

Keep working w/ doctors in finding help for your LO, My 1st born was misdiagnosed for months and he did rupture, he had emergency surgery to save his life at 8 months old.

This was 17 yrs ago, it’s so sad that all these yrs later children still have to suffer so long before a solution is found.

My 2nd child also has HD, he showed signs w/in the 1st 24hrs so I was talking w/ the dr’s about HD, the Drs and nurses were great, however the 1st surgeon was still thinking it could be cystic fibrosis even when I told her how I had another child w/ HD and I had tested neg for the CF when I was pregant. That surgeon and hospital could not preform the surgery, so we were transfered and even at an All CHildren’s hospital at that very time they did not have a surgeon who could do the pull though as one surgery w/ no colostomy. We took him home for a coupel weeks and did the irrigation to keep him “flowing and clean” and once the new surgeon got into town we had the pull through (one surgery w/ no need for a colostomy). He has been doing great since then.

Keep working w/ the drs and get 2nd opinons.

#6

Thank you so much for your insight!!!

This is all new for us, as my oldest 2 girls are perfectly healthy. We are getting pretty frustrated, because they keep throwing the “cystic fibrosis” at us, as a possibility, although she has already tested negative for it…it just makes no sense why they are stuck on that for a diagnosis…when it doesn’t fit. Her barium showed classic HD, but then there was some discrepancy in the biopsy that they had taken, as they had to have it transferred from hospital to hospital…and they now want to do another biopsy, which is fine by us, but they are pressing a spinal tap on us as well, because her legs are deforming now as well…which i’m not convinced is related to HD at all!!! I am just concerned about her rupturing before they get her all straightened out!!!

I am so thankful for the people who have shared their stories and comments with me, because before a friend stumbled upon this website for me, while helping me with some research, my husband and i were completely in the dark, having full faith in the doctors and what they were telling us…it’s just great to have someone in the same situation who understands from a parents point of view!!!

THANK YOU!!! :slight_smile:

#7

Hey there,

My DD’s diagnosis took two days to confirm by a rectal suction biopsy. Katie had LSHD and lost 18.5 cms of intestine.

I’m curious to know whether the DRs have ever performed an MRI on the lower half of your childs spinal cord to rule out either a tethered spinal cord or some sort of neural tube defect.

Also, I’m curious to know what hospital you use?