Hirschsprung's Disease - Ryley's story

Ryley had perfect Apgars when he was born on October 3 2006 (I was induced at 39 weeks as I had pre-eclampsia), though he wasn't interested in feeding and didn't cry during the first night at all - so I called the midwife in, who gave him some formula in a syringe (we couldn't get anymore out of me) but he really wasn't interested. The next morning, he still wasn't really feeding well, so the midwives were trying to help, and still nothing happened. Then when we were changing his nappy (he hadn't passed the meconium plug) he vomited up a green bile, so immediately the Paediatrician was called in (we found out later he suspected Hirschsprungs Disease, which is a disease of the bowel where the nerve endings or ganglion cells don't develop properly, meaning that stool cannot be passed through the bowel) and he sent Ryley for an Xray. This showed a blockage in his bowel so they took him to the Special Care Unit (that was sad enough to see- my baby placed in an incubator and I couldn't hold him) and then they transferred him to Monash NICU in the NETS ambulance. This was 18 hours after birth.

It was all so distressing - of course you have pregnancy hormones going berserk and nothing is going as planned. I had never been to hospital before and had been looking forward to the whole experience, and I had certainly never been in an ambulance. So the first time was when Ryley was transferred to Monash. They didn't have a bed for me there though so I still had to go back to The Angliss at night - that lasted one night then I checked myself out. I couldn't stand being in a ward where there were 3 other new mums enjoying their babies - I spent the whole night crying.

Anyway, at Monash, they continued to run tests and tried to relieve the blockage, but nothing much was happening. Finally 3 days after birth his tummy blew up and they took him for another Xray which showed that his large bowel had ruptured. So they rushed him into surgery (they couldn't even wait for us to get there). They also said if he was at the original hospital or at home with us, he would've died. Very confronting to hear! It was a horrible experience, as we didn't know whether he'd pull through the op. I kept trying to imagine my little baby in a very serious operation - how did he know that life was worth living? And we didn't have a chance to see him before surgery, so all kinds of thoughts were going through my head - I didn't know if I would ever see him again.

Well he made it through, and they did a biopsy and they gave him a stoma (so he had an ileostomy). This was difficult to deal with at first but we got the hang of it eventually - we had to as he had it for 5 months! But my husband was great with it - fortunately for me, so I rarely had to do it by myself. We usually changed it as a team, and we had to frequently as most bags wouldn't stick to him and used to explode everywhere. I am so glad he now poohs into nappies! Nappy changing is a breeze!

The biopsy showed that he had short segment Hirschsprungs, which to us was best case scenario after all the different things they were guessing it may have been and it was better than long segment. He came home for the first time after 10 days (his weight had to increase a bit before he was discharged). He weighed 2.6kgs at birth (yes, he was tiny!) and 2.8kgs when he came home for the first time. Then less than 2 weeks later, I noticed that whenever I would feed him, it was coming straight out through the stoma and he was never full, so we took him back to hospital and they think that was his first bout of Hirschsprungs Enterocolitis. He got very dehydrated and lost a bit of weight, so stayed in hospital for 5 days.

Then a similar thing happened another fortnight later, so we took him to our closest hospital (where he was born) as we figured they'd just put him on a drip and antibiotics again. Turns out though that they refused to handle a baby with an ileostomy, so they transferred him to Monash again (yes, another ambulance trip). This time, even though I kept telling them it was the same thing as last time, they tested for everything else but that! They tried to do a lumbar puncture, to test for meningitis, and I just about hit the roof as I didn't want him to go through that and I was fairly sure he didn't have it. Turns out the test didn't work and when they went to try again I refused permission. When they finally found out that he had the bowel infection again (I couldn't resist saying I told them so) they started treating him straight away, but by then he had lost so much weight that they weren't sure he'd survive. We ended up giving permission for them to put in a central line for him to get fed into his heart and through his veins (something I suggested a week earlier). He also got various infections whilst in hospital which were set backs, so his stay this time was 7 weeks and included his first christmas.

Also, the patholgy from his biopsy was now unclear (for some odd reason) and they now didn't know the level. At one stage they thought the Hirschsprungs was throughout his small bowel as well, but fortunately that was ruled out by a contrast test, then they thought it was right through his large bowel, but that was ruled out in his second biopsy in January, when it was found to be longer than short segment but not too bad. It affected the whole left side (end) of his bowel up to the transverse colon (I think!).

They also tested him 3 times for Cystic Fibrosis - which was very worrying. All three tests came back negative.
[Edited on 20/04/2008]
[Edited on 20/04/2008]

When he had his pull through surgery (whereby they removed the affected part of the bowel, and then joined the healthy part to the rectum) at 4 months (which they wanted to wait til he hit 5kgs), they removed 30cm of his bowel, and he recovered so fast he was out in 3 days and when the stoma was closed (they waited an extra month as a bit of a safeguard as they were worried his bowel might perforate again) he was out in 2 days! He continues to amaze his doctors!

I think Ryley had so many worries initially because he was so small anyway, so he didn't have any buffer to fall back on. Therefore he declined very fast. Putting him on TPN was worrying (because of the possible side affects) but we had to do it as he HAD to put on weight, otherwise they were never going to do the pull-through.

A difficult part was all the "don't no's" we were getting from the medical staff - they said all the stuff Ryley went through was a 1 in 10 year occurrence so they just wanted to wait it out a lot of the time, but this wasn't good enough for me! I am impatient at the best of times, and when it was the life of my newborn baby at stake, I was a basket case!

We also had to do wash-outs of his stoma and dilatations - before his operation, we had to insert a steel rod into his anus to gently dilate it, so that it wouldn't constrict too much and seize up (causing constipation). Then after the op, we still had to do it for several months (only once a week though - it was every day at one stage) so that the scar from the op didn't heal over causing the hole to close up. Thank god that is over though - I hated doing it to him as he would scream blue murder. (I remember that first time when the doctor did it when he was only a couple of weeks old - my tears were mixing with Ryley's and I was so angry at the doctor who did it as it seemed very invasive. Now I understand that it was a necessity, but at the time I was angry at the world!)

Ryley's ops were all performed at Monash Medical Centre, and he had great surgeons on his case. We also had a lot of input from the Royal Childrens - they were very concerned about Ryley as he presented differently to other babies and had additional problems due to a low birthweight (hence the very long hospital stays leading up to NYE) and a few bouts of Hirschsprungs enterocolitis. At one stage they didn't think he would pull through the night and it was very frightening.

Ryley initially had a longline (through his foot), but when they tried to put it in during his longer stay in hospital, they couldn't find any good veins, even under anaesthetic as a surgical procedure (they poked and prodded him so much that most of his veins collapsed), that's why they had to do a central line which was making an incision in his neck and then another in his chest and feeding a line in through his jugular vein to his heart. This fell out so had to be done twice. In all he has had 7 operations/surgical procedures and he has the scars to show. We joke that he has bullet wounds on his chest (from the central lines) and on his tummy (from the second biopsy). And the scar right across his stomach (from the ileostomy and the pull-through, which was done from both ends and couldn't just be done from the anus due to all the scar tissue already on his stomach which made a laparscopy (sp?) quite dangerous) looks like a shark bite - I think that's what we'll tell everyone when he is older - far more impressive!

It's quite frightening though seeing your baby with all these tubes in (the one I hated most was the respirator tube as it made his face look all deformed - and this was when he was only 3 days old, when he was just so tiny).

Anyway, 1 year on and all is going well. There have been no complications from his pull-through and he is putting on weight steadily. He is a brilliant eater (always has been since this longest hospital stay anyway - I think he was making up for lost time). And he has just hit the 50th percentile on the charts, for everything, which is a huge achievement.

Ryley initially hated being on his tummy, due to scar tissue and the related pain from that, and so the doctors and MCHN thought he would skip crawling and would walk early. However he started crawling at 10 months and walking at 15 months.

Ryley's only problem is a bad nappy rash - his poor little bottom is so sore with open, bleeding wounds in the crack of his bottom. It's heart breaking to see. Though it's not constant - it comes and goes. It all depends on how his poohing habits are - sometimes he only poos once a day and they are quite hard, and other times he poohs 4 times a day and they can be runny. I noticed it worsened when he changed onto cow's milk when he turned 1 and started eating more solids, but I figure it will just take time for his bowel to learn to adapt again (as it did before).

One more thing - huggies nappies are the BEST for a child with heaps of pooey nappies!

Anyway, that is probably enough from me. I think I have gone a bit "all over the place" but it all really is a distant memory now (I think I have tried to make myself forget). Now I am just so happy with my smiley, happy and HEALTHY little boy!
[Edited on 20/04/2008]

I'd love to hear from anyone else who has a child, friend or family member with Hirschsprung's Disease.

Also, there is a support forum set up for families of HD children:

http://s3.zetaboards.com/Hirschsprungs_Talk/index/

[Edited on 24/08/2008]

Hi!
It must've been so hard for you guys. I'm so glad Ryley is doing so well these days!

wow!!! My heart goes out to you and your little miracle Ryley! I can't even imagine how hard it would be to see your beautiful baby go through so much!!

What wonderful news that he's doing well now! You are a very brave mother xoxoxox

Hi Kristin,

Our daughter has hirschprung's disease. She is now 5 months and had 10cms removed at 10 days old. It was picked up when she didn't do her first poo. She was transferred to the children's hospital at 2 days old, where she had a biopsy confirming she had hirschsprung's and then went through daily wash outs and had a rectal tube in place until her day of surgery. She only had a small segment removed, so does not require a bag.

I completely understand what you went through - not knowing what was going to happen and seeing your new born go through so much. You feel so helpless.

I guess one thing my husband and I realised while in the children's hospital - was at least we knew what was wrong with our little one, and knew it could be fixed. We felt lucky that this was the case, where some parents had no idea what was wrong with their babys and they had no time estimation of when they would be able to go home. We felt guilty for taking up a bed in the newborn ward, as our bub didn't need monitoring etc prior to her surgery - she looked like a healthy bub compared to most that were there.

I'm looking at starting solids soon and am really worried about how she will respond. I'm thinking of seeing a paediatric dietician before we start, so we have someone to discuss her reaction and what we need to do if she starts getting constipated.

How old is Your bub now?

Looking forward to hearing from you,

Take care,

Alice

Hi Alice

So glad to hear from you, and that your story is a fairly happy one. Did you have any family history of HD (that you know of?)

Whereabouts are you? We are in Melbourne.

Your daughter's sounds like it was one of the 'easy' ones from diagnosis through to treatment (surgery). But it is still a very scary time huh? Something you're not expecting when you have a baby is to be dealing with surgeries and life threatening issues so soon! Too often I hear very awful stories with regards to HD. Many go undiagnosed or have various additional problems. I think ours was sort of a weird one, as Ryley's bowel perforation threw a real spanner in the works. And then with the inconclusive biopsies, meaning they never really knew the full length of his bowel affected, that also made it difficult as we didn't know his outcome or even treatment almost until the last minute. Add to that his bouts with enterocolitis - made for some fun times!!!

I am fine when I look back on it now, and have almost forgotten just how bad it was. Now I think really he could have a lot worse than HD, so he is quite lucky.

And you wouldn't know there was anything "wrong" with him, to look at him now, aside form the large scar across his tummy (they had to cut him open for the surgery due to all the scar tissue from previous surgery when his bowel had perforated).

Ryley is now 20 months old and absolutely thriving. From a kid who wasn't on the charts for anything, he is now around the 50th percentile for all of it (including weight which was a hi8ge worry early on).


We did see a dietician around when Ryley was 5-6 months (because he was still in and out of hospital, so it actually came in handy!) and she just told us to start him on solids as you would a normal baby. But to wait until 6 months, not any earlier.

You will also find that foods will affect her in different ways. Often HD kids have trouble with the acidity in tomatoes so many steer clear of tomato based meals. However, this has never been a problem for Ryley. HD kids are also often lactose intolerant - again, Ryley isn't (they thought he was early on, so he was on Pepti Junior formula, but it turns out he wasn't). We started him on pureed pumpkin, which was (and still is!) a huge fave.

It really is trial and error as each HD child is so different.

We also have Ryley on a low fibre diet, as high fibre tends to go straight through him and his poo is a lot runnier. For example instead of weet bix, he has rice bubbles (Which is more constipating). Ryley now poos probably twice a day on average (sometimes once, but usually twice). Which I think is pretty good.

I also recommend using probiotics as that balances the bacteria in the bowel. You can get probiotics for babies.

Does your daughter have problems with nappy/bottom rash? Ryley had massive problems with it, but it all seems under control now. There are many different lotions and creams to try.

Please let me know if I can answer anymore questions as I am only too happy to help. Also, I'd love to see you over at the special HD forum which was set up last year, for parents of HD kids. If I can't answer a question, someone from there surely can as they are very knowledgeable. There are even other parents there with children a similar age to your daughter so you might find it very useful smile

Kind regards,
Kristin

Hi Kristin

I was researching Hirschsprung's Disease and found this Forum. I have read what you have written and it has answered some of my Husbands and mine questions.

We have a 23 month old boy, Brody, who was thought of to have had Hirschsprung's Disease when he was born as he had not passed any stool within 48 hours and he did not feed very well. Luckly a specialist was in Albury/Wodonga and came and saw him. She believed that he did not have Hirschsprung's Disease as he did not have a true blockage and he had an inconclusive biopsy, but because he wasing passing stools and putting on weight they believed that he did not have it.

Then on 17th January 2007, I dropped Brody off at Daycare as usual although he was not his normal self. When I went to pick him up he had not eaten anything all day and only had some water to drink. When I got home, I changed his nappy and felt a hard lump in his belly that I had not notice before and he was crying and restless. I rang my husband to come home and we went to emergency at the hospital.

There they did x-rays and ultrasounds and Brody was screaming all the time. We were transferred to Royal Children's in Melbourne by the Victoria Air Ambulance who were kind enough to come and pick us up as it would have been a 4 hour trip in the back of an Ambulance. My husband travelled down early the next morning.

They found that it was HD and they started doing wash outs to clear his bowl but this did not work and he was rushed into sugery to have a stoma put in on the day he turned 6 months. The staff were wonderful at the hospital getting us information off the net and giving it to us. Mr Audlist the surgeon was great and still is. Brody was only in Hospital for a couple of days and then released home. We were taught how to change the bags etc.

Like you we hated this job with a passion but we knew it was helping our little boy. We too had to change them as they would not stay attached sometimes as well. After 6 long months of changing bags and travelling to Shepparton to the hospital there to see Mr Audlist, he had his surgery 2 days before he turned one. We tried to make the brthday as special as possible and he was allowed to eat something on that day. The doctors and nurses had kept on asking why he was so restless, if he was in pain and I would say that he was hungry. Of course when he started to eat he was a happy little boy and he was able to go home earlier then what we thought.

He has a scare on his belly from the stoma and I love changing nappies rather then the bags anyday. Brody will be turning 2 next month and we are having a great big party for him as he missed out on his 1st birthday.

Brody also had the sores on his bottom and we found that Zinc and Castor Oil Cream was the best thing to put on it. Cleared up his bottom straight away and we applied it everyday and it kept the sores away. He is also lactose intolerant which reading your posts has help us understand a bit more as we did not know very much.

My heart broke everytime hearing Brody cry in pain when they were doing all the tests as he was our first child as well. There is a 3% to 12% chance that another of our children will have HD but we had another beautiful little boy in November last year and he is fine. I just wish that there was more information about this for parents. None of our families had heard of HD until Brody had it, nor had we heard of any other child we knew had it, but since Brody had HD we have heard about 4 other people we know, where they have had a family member or someone they know child's born with HD.

Kind regards

Dianne

Hi Dianne

Aren't all the Hirschsprung's stories so similar. Whenever I read one, I think I could be reading about Ryley!

I have heard quite a few cases where they don't diagnose HD initially. Does Brody have short segment or long segment HD?

How has Brody been since having his pull through and his stoma reversed? I must say, Ryley has handled it all very well and has only been in hospital with one serious bout of gastro since his pull through (which is huge for him, as he practically lived there beforehand!) But I watch his diet very closely and monitor fluid intake.

Does he get gastro and excoriation problems when he gets a cold? Ryley does unfortunately, so it is a constant battle.

I am so glad to hear your new baby is HD free - what a relief!

Please feel free to write back, PM or visit the other forum I have listed previously if you ever want to chat some more (or ask any questions).

Kind regards
Kristin

Hi Kristen

Brody has short segment HD. Brody has been fine since the stoma and his correction surgery. The surgeon actually went through the top where his stoma was to the bottom. He has only had one bout of gastro and he had to visit emergency but after one day of gastro treatment he was but to his normal self.

When he has a cold his doesn't have any problems. The only thing that he does get a lot of is wind. We can here it going around in his bowel. He use to get very bloated when he had cows milk.

Kind Regards

Dianne

Fantastic to hear he is doing so well!

Well, never did I think I would be replying to this thread - simply because I had NEVER heard of this crazy disease.

Our little Ben has Ultra Short Section HD. He was born two months ago by c-section after a superb pregnancy with no comps.

Straight away I knew something wasn't right... he looked like he was all head and no body. All scrawny. 6lb, 3oz and 47.5cm long. Not tiny, but not huge.

He never passed the meconium, so they thought it was a mec. plug, but to be safe biop. for HD on day two of life. No HD found, they had tested too high.

After being released from WCH 12 days after birth, they had decided he was just 'acting prem' and they were waiting for his gut to wake up.. after three dialatations. We had him home for 10 days and we decided he still wasn't right.

Our surgeon, who I might say is a bloomin' genius, booked him straight in for a strip biopsy and we got a diagnosis.

One week later, Ben had a posterior rectal myotomy to split the spasming sphinter. Pretty straight forward, but he got sepsis on night one at hospital. After 5 nights, he got to come home. We are still treating him for thrush from the anti biotics though... has anyone found that HD kids take longer to get over things???

So I have a couple of ?'s

Ben still gets bloated and refluxy... anyone else's little cherubs get this after surgery, and if so, did they grow out of it?

Our surgeon said the first 12 months are when we have to be on our guard, ie. if he gets gastro he will almost certainly end up in hospital??? Thoughts?