Parents’ experiences of neonatal surgery
Hirschsprung’s disease - getting ill & diagnosis
One of the more common congenital* anomalies that require surgery in the first year of life is a bowel condition called Hirschsprung’s disease. This is a rare disorder of the bowel, where the nerve cells do not develop all of the way to the end of the bowel. The section of bowel with no nerve cells cannot relax and it can lead to a blockage. Babies all need surgery and may have ongoing problems with stooling (pooing) normally. Yeah no it wasn’t a paediatric A&E. So yes so that say that was two and a half hours of screaming and that was awful, you know, just bright lights, alarms going off everywhere it was really stressful and my husband soon turned up about half an hour later. And yeah and then the next thing I remember was them saying the surgeons would be down from [children’s] Ward and I just remember thinking surgeons, what. Donna: And so we went over they put the tube in and he kept, she, she did him a tube feed and he actually kept it in and it was cos he was sort of vomiting after about half an hour previously whereas this time sort of an hour or so passed and he didn’t vomit. And then at about 10 ‘o’ clock had a wet nappy so I sort of laid him down and got all excited told the midwife ‘Oh we’ve had a wet nappy maybe the dirty nappy’s on its’s way’ and as I picked him up from changing his nappy he just, he threw everything up again so she spoke to the paediatricians again they said just leave it until his next feed and see how the next feed goes which was I think due at 1 ‘o’ clock in the morning. she came in to do his feed at 1:00 am and I was expressing, she said ‘You express I’ll feed him for you’ and as she was feeding him she said ‘It’s really odd it feels like he’s got a bit of wind so I’m gonna try and wind him’ she said ‘He shouldn’t cos he’s got a tube in.’ Donna: Yeah there was a lot of people around his bed, I just remember I was really struggling to keep my eyes open and everyone was asking us questions. We had one, one doctor was sort of asking, everyone had, several doctors asking me how my pregnancy was and whether there was any medical conditions, whether how our daughter, how healthy our daughter was whether cystic fibrosis was anyone in the family with it. And it, I don’t know it just seemed to be like questions being thrown at us for everything, well it felt like that to me. And then there was one doctor who said, you know, ‘You had an emergency C Section and was it because he was breached?’ I said, ‘No he wasn’t breached,’ and she was like ‘Right well he was breached, so was the section because he was breached?’ So I was like, ‘He wasn’t breached,’ I think she just left it at that thinking I was crazy and I thought she was crazy. But he yeah and he was breached, little tinker but he yeah everyone sort of there was a lot of medical team there trying to work out of he had an infection they were sort of asking a lot about taking lots of bloods off him and then they said that I just remember the one doctor saying that they needed to do a wash out on him.
Hirschsprung’s disease is a condition not picked up by antenatal scans, and only becomes apparent after the baby has been born. We interviewed the parents of 6 babies who had Hirschsprung’s disease.
Early signs of Hirschsprung’s disease
All the babies were born well, but parents started to notice that things were not right within either the first few hours or days. Symptoms included not feeding well, being sleepy or “floppy”, not having passed their first poo (known as meconium) and throwing up green vomit or bile. These signs are the result of a failure of the lower part of the bowel to relax properly to allow poo to pass through.
Vanessa took her son home, but became worried about him and took him back to hospital the next day. He was vomiting green mucus and was admitted for tests. Luke and Angie had their third baby at home, but were soon noticing worrying signs – no meconium and not feeding well. They took him into hospital. Leanne gave birth in a local midwifery unit and took her daughter home after just a few hours. But over the next couple of days she felt that things weren’t right – the baby wasn’t feeding well and was throwing up mucus. She asked the midwife at her local GP surgery to look at her baby, and she was then sent to the local hospital.
Leanne waited with her daughter in A&E for a couple of hours, and was then shocked to be told the surgeons were coming down to see her. They were told it might be Hirschsprung’s disease and given a leaflet.
Leanne waited with her daughter in A&E for a couple of hours, and was then shocked to be told the surgeons were coming down to see her. They were told it might be Hirschsprung’s disease and given a leaflet.
No-one had talked to you about surgery?
No it, it literally just been trying to get the cannula in and doing the you know, checking whatever they check, blood pressure, sugar level I’m not sure, the standard the OBVS they call it don’t they, so that’s all they’d been doing and then the next thing it’s the surgeon will come and see you. And that at that point I was really thrown into shock I suppose because I didn’t think for one second, you asked me whether I knew it was bad I didn’t think we were talking surgery here. And I kept saying to them ‘What do you mean surgeons, what do you mean,’ and I guess it’s just so every day for them they were just saying, ’Well he’ll come down ask you what’s going on, have a chat to you,’ so it was just waiting there and it was getting really late and, and finally a couple of surgeons turned up and they explained that they, there was a problem with [daughter’s] bowel and they needed to work out what it was. So they were going to take her to [children’s] Ward. So we all went across to [children’s] Ward and then she very quickly got onto the x-ray table and they started trying to x-ray her but of course she was too tiny to really have anything to show up so they were putting coloured solution in her so that on the on the screen it would show up all her bowel and her tubes would all show up. And she was just so sweet and like she was just lying on the table little eyes open just watching what was going on and at this point she had wires in her and oh it was awful. and they couldn’t work out from the x-rays what, what was wrong and at that, when you try, I mean they’re busy they’re working against the clock because at this point they did explain that we were the highest risk because it’s a new born baby not feeding you know, so we were the highest priority. So you can’t really interrupt them to say, you know with all your questions, you have to let them do what they’re doing. and there wasn’t really time to sit down and be explaining things to us so we were just watching what was going on and there were phone calls and they eventually got another registrar another surgeon in from another ward who was a specialist in reading these pictures cos they just couldn’t tell whether it was a twisted gut or anything. And so anyway, so this other surgeon was on his way to look at the picture and I think until that point they’d decided they were going to have to operate to find out, they said if they couldn’t find out what was wrong they would have to operate and look inside [daughter] to find out. That’s right because I remember, I remember when they said to us sorry, because it’s a long time, its a year now, so this is like, so they’re looking at the pictures and they couldn’t work out what’s wrong and then that’s, they took us to a room on [children’s] Ward and they wanted to just do a bit on their own I think, if they could felt like they were under pressure we were there and what... So we were now not with [daughter] and they were trying again to get the right pictures and then they came in to see us and so they said that it was now a matter of working out whether she needed emergency surgery and that they had called for this other surgeon to come and look at the pictures. Luckily this other surgeon looked at the pictures and was able to tell very quickly that it wasn’t anything that needed immediate surgery which was great news to us but it didn't mean that she was okay it just meant, it didn’t mean that she’s going to avoid surgery it just meant they don’t need to look inside her to see what’s wrong. Matt and Donna’s son was still in hospital and had not passed any meconium. When he vomited green bile all over the floor the midwife called the surgeon to assess him.
Matt and Donna’s son was still in hospital and had not passed any meconium. When he vomited green bile all over the floor the midwife called the surgeon to assess him.
And so as she winded him, he threw up threw up on her and the floor and everything and she looked at it and she said, ‘I’m gonna go and get the doctors, take him to the doctors cos that’s not, its’s not ,milk that he’s throwing up so I just want the doctors to see him.’ and I remember she took him, took him with her and she seemed to be gone for ages and ages cos she said, ‘The doctors at the desk so I’m just gonna quickly run and get him’ and she come back and she said ‘He’s gone, I’ve rang him but he wants his he wants the consultant with him, he doesn’t, he doesn’t feel capable,’ I think is it the registrar then a consultant? He said ‘I don’t,’ you know, he the registrar wasn’t comfortable doing it on his own so we had to wait for the consultant to come in. by this time it was sort of getting on towards midnight I think, you were, you were.
Matt: About that, yeah.
Donna: Yeah at about 1 ‘o’ clock, well no, yeah, no, yeah it would be after 1:00 won’t it because his feed was at 1:00 so about 2 ‘o’ clock in the morning the consultant came and she showed him, she’d left everything on the floor all the sick and everything and he said sort of as soon as he saw the sick his face sort of looked slightly worried and he said ‘Is this, this what he’s been throwing up?’ I was like ‘Yeah, yeah’ and he said ‘Right we need to stop all feeds we’re gonna take him over to NICU, he’s gonna have to go on a drip, we need to do an x-ray to see if there’s a blockage and run a few tests and then we’ll know, we’ll know from there.’ So he got wheeled, wheeled out into, over to NICU which was sort of just across the way and sort of I got on the phone straight away to you didn’t I and said ‘He’s gone over I’ll let you know’ and he said ‘Well I’m coming back,’ so.
While some parents were fortunate to already be in a hospital that had staff who could diagnose Hirschsprung’s disease, others had to be transferred quickly. Matt and Donna were in a hospital large enough to have a neonatal intensive care unit (NICU)*, but after an x-ray showed he had a blockage in his bowel they were told he was going to be transferred to a hospital that had specialist pediatric surgeons. Both Leanne and Vanessa had previous experience of NICU with their first baby. For one, that experience made them feel better prepared, for the other there was a heart-sinking moment of “not again”.
Diagnosis of Hirschsprung’s disease
Initially babies with Hirschsprung’s disease presented with a bowel blockage that needed to be cleared (mostly by a wash out). Parents were told their baby’s condition was likely to be one of three things. The blockage was either a one-off, cystic fibrosis or Hirschsprung’s disease.
Matt and Donna remember a barrage of question when they arrived at the specialist hospital, as doctors tried to make a diagnosis.
Matt and Donna remember a barrage of question when they arrived at the specialist hospital, as doctors tried to make a diagnosis.
Matt: Yeah
Donna: To get rid of his meconium because that’s what was making him poorly he was.
Matt: That’s the first time I, I got kind of a clarity speaking to, speaking to her she was kind of like, we suspect its’s this we’ve seen a lot of it recently she possibly said Hirschsprung*, I’ve no idea, that time of the morning no idea. and she just very much put my mind at ease as to we suspect it’s this, the likelihood is this, because these are the signs he’s showing for, cos he’s not passed it and obviously all the bile and stuff so yeah that was the first time we got that kind of clarity.
* Hirschsprung’s Disease
A rare disorder of the bowel, where the nerve cells do not develop all of the way to the end of the bowel. The section of bowel with no nerve cells cannot relax and it can lead to a blockage. Babies all need surgery and may have ongoing problems with stooling normally.Jason was greatly reassured by the surgeon who visited NICU* in the early hours of the morning. The surgeon was confident it was Hirschsprung’s disease* and explained that it was fixable.
Jason was greatly reassured by the surgeon who visited NICU* in the early hours of the morning. The surgeon was confident it was Hirschsprung’s disease* and explained that it was fixable.
So he came over to where Lucy was, in your room?
Jason: Yes.
Lucy: So he came over to the ward that I was on and so that he could explain to both of us what he thought potentially the problem was.
Jason: Yeah.
Lucy: Drew us some diagrams and then kind of told us to go away and look into it a little bit ourselves to get a little bit more information, I think he was probably quite confident at that point cos he’d given quite a specific diagnosis.
Jason: He just explained that they’d have, they’d have to do a biopsy just to make sure that they knew what it was.
Lucy: Yeah.
Jason: But then obviously reassured us that, you know, it’s something that can be treated, that there’s a huge success rate and all the rest of it. We just went with the flow didn’t we, just went with it.
Lucy: We did yeah.
Jason: The most important thing for us was that he was gonna be treated, that he was gonna be okay that they could do something for him so that, that took a hell of a weight off of us.
* Neonatal Intensive Care (NICU)
A unit for critically ill newborn babies and infants who need the highest level of nursing and medical care. Babies in NICU often require support for their breathing. Those undergoing major surgery will often be looked after in a NICU.
*Hirschsprung’s Disease
A rare disorder of the bowel, where the nerve cells do not develop all of the way to the end of the bowel. The section of bowel with no nerve cells cannot relax and it can lead to a blockage. Babies all need surgery and may have ongoing problems with stooling normally.
“Okay we are now going to take your baby through here and do things behind these doors and we said, ‘Well we’re coming with him,’ they said ‘Well we’re not really set up for that,’ and went ‘Well we don’t care we are not leaving our child,’ and that was a real theme to some as a real shock to the system.”Luke
Leanne described what surgeons told her about the surgery for Hirschprung’s disease might entail.
Leanne described what surgeons told her about the surgery for Hirschprung’s disease might entail.
Yeah, and what surgery was it that they told you about then?
So they explained to us that she had part of her bowel wasn’t working because it had no nerve endings so with a Hirschsprungs* baby you don’t know how much of the bowel has no nerve endings until the point the surgery starts because they start the operation with the biopsy’s on the tummy to see how many, or biopsies on the bowel to see how much of it is good and how much is bad. So they had to prepare us for the worst possible case which was a 24 hour operation with two surgeons and the removal of the whole bowel. But we were all quite hopeful that it wouldn’t, that she’s a mild case because she was reacting really well to the wash outs, she hadn’t had any infections and she was looking really healthy as well and there were all signs when we did the research indicated that it would be a mild case. And I think the surgeons and everyone in the hospital thought that but nobody wanted to say it, none of us because we didn’t want to tempt fate or say anything that would give anyone false hopes. I had, we all had this feeling that we were all thinking it’s not going to be 24 hours and she, but nobody wanted out say it. And yeah so they take the bad bit of bowel out and then they do pull through surgery to stretch the bowel down so the rest of the bowel picks up the bit of job that the bad bit did.
Okay so how, how old was she when she was in?
So they had to do it at eight weeks old.
* Hirschsprung’s Disease
A rare disorder of the bowel, where the nerve cells do not develop all of the way to the end of the bowel. The section of bowel with no nerve cells cannot relax and it can lead to a blockage. Babies all need surgery and may have ongoing problems with stooling normally.
“I was a new mum and, well, our views, were being dismissed as new parents, when we were saying there was something wrong, there’s something wrong you know right from those early couple of days right through, and really right up to the point of diagnosis at 8 months.” Clare
Despite her worries Clare found it hard to challenge the medical professionals. Clare was relieved when her GP finally took her seriously.
Despite her worries Clare found it hard to challenge the medical professionals. Clare was relieved when her GP finally took her seriously.
And then he would get home and sort of hear me relate this back and be sort of saying well that sounds like complete rubbish, you know, I think you need to press again on this, you know, next time you see them, say, let’s see how it goes but let’s press again, lets press again. And I found it very hard to question medical professionals confidently. Because I was aware I was a new mum and I think the other thing is that you know, this is your child and you want them to be perfect and you, you’re the last person that wants to question whether there’s something wrong about them, you know, it just.
And that’s, to me that’s the point when things started to change, albeit there was still a lengthy process after that or what felt like a lengthy process. But at the GP appointment we, so myself and my son, saw the GP and, and she was fantastic, you know, she ran through all the checks and everything and I, by that stage we’d, we really started to get very frustrated with what we were getting from the health visitors and we could see that [son] was quite poorly and I’d had him, at that point I think I’d had him actually throw up a couple of full feeds as well and although I’d heard from other mums, you know, ‘Oh yes, my child’s throwing up,’ you know, this was right across the room.
James: Yeah projectile.
Clare: There was just, it was like something out of the Exorcist or something so I, I took the opportunity at that appointment to say to the doctor, look, you know, there’s, we’ve had all these visits and everything but he still hasn’t really done a proper poo and I’m, you know, I’m now really quite worried about it. So she examined him and actually during that examination she was very, very thorough and then she sat me down and she said ‘Okay, I’ve obviously had a really good look at your son and actually I am a bit concerned, you know, I agree with you, things are not right. So we definitely needed to take this as bit further’ and then I, she then said something along the lines of a, I can’t remember exactly what but something along the lines of, ‘You’re obviously an intelligent mum I’m sure you’ve been doing some research and, you know, the internet being what it is and everything so you’re, you’re probably getting a feel for some of the conditions that this could be and I think this could be Hirschsprungs*, it would be a really unusual presentation because he has put on weight albeit it’s dropped off, he does look, you know, a healthy good colour, you know, he is still feeding etc. etc. but there are other things here that are pointers and I think it’s worth us getting him checked out.’ So I said, ‘Okay’ and I had seen Hirschsprungs mentioned so I sort of- on various internet things- so I did have an idea of what it was about and what it might mean but was trying very much to kind of go right okay I’m not going to panic. But what then slightly panicked me was that she then said, ‘I’m just gonna go and make a phone call’ and she went off and then she came back in the room about five minutes later and said ‘Right I’ve spoken to the paediatric department at the hospital I want you to go straight up there this afternoon.’ So she had obviously thought that having got to the six week point with everything that had happened that it’s was significant enough to get us seen straight away.
James: And this is probably one of those interventions that were actually incredibly important and positive.
Clare: Yeah, amazing.
James: And I wasn’t there.
Clare: Yeah.
James: But the way she handled it was seemingly very good.
Clare: Yeah.
James: And, you know, it wasn’t inflammatory was it, it was a, ‘I’m worried so let’s, let’s just’-, you know.
Clare: Yeah she was very calm and very matter of fact about it, I really remember that about her as a GP and the way that she kind of dealt with us.
James: And actually a GP who is not a paediatric specialist necessarily to pick up on that is excellent, I mean that, you know, that is baseline brilliant.
* Hirschsprung’s Disease
A rare disorder of the bowel, where the nerve cells do not develop all of the way to the end of the bowel. The section of bowel with no nerve cells cannot relax and it can lead to a blockage. Babies all need surgery and may have ongoing problems with stooling normally.Eventually their son was admitted to hospital with a suspected virus, and Clare and James managed to convince doctors to take their concerns seriously.
Eventually their son was admitted to hospital with a suspected virus, and Clare and James managed to convince doctors to take their concerns seriously.
Clare: It just kind of wasn’t going anywhere.
James: And so we were sort of saying, okay we’re not really seeing much of an improvement here and actually his weight is starting to drop quite quickly, you know, this is quite a concern.
Clare: And they knew, they knew his history as well, obviously that I’d come from, from [city] that there was other stuff.
James: Yeah.
Clare: In the background that there’d been concerns about and by that stage we were a bit more gemmed up I think on Hirschsprungs* as a possibility, I’d certainly read up on it a bit more.
James: I think there was a point at about day three of us being there and obviously Clare, you were exhausted by then weren’t you because you were up with [son] a lot. I spoke to the governor doctor, there was a consultant I remember, a guy came to see Clare. I took him outside and I said, ‘Look I’m really sorry I don’t mean to be rude about this, but you’re wrong, this is not right, you now need to start doing something or I’m gonna, frankly I’m gonna make a complaint because this is just ridiculous we have reached our limit.’ And fair play to him, I mean, he was a bit obtuse about it to start with but after that he did, he went away and we got referred.
Clare: No I think it was diagnostic, his initial diagnostic tests was done maybe a week later or two weeks later.
James: Yeah, so biopsies.
Clare: And that was, yeah so and the first lot of biopsies was the, was probably the most horrific because that was the one where they do it with what’s probably best described as a thing that looks like a gun [laughs] which obviously they insert into the bottom and then it takes the biopsies. And that was pretty horrific I mean I’m not.
James: It was inconclusive, the first round was inconclusive-
Clare: Yeah I’m not squeamish at all and yeah they, it came back as inconclusive.
James: And we were shocked we thought, wow okay suddenly we have made this into something more than it is, you know, a complete surprise.
Clare: Yeah that was an awful moment actually.
James: Okay so we’re back to square one.
Clare: So you’ve put your child through this completely horrific procedure and then you’re told well it’s inconclusive but they did say that as an inconclusive, that was still enough to then put him forward to do it under general anaesthetic because they would then be able to obtain better samples because they did say that sometimes with this particular method they can be anomalies in the sample taking anyway and just kind of lots of issues really and I think, again this might be just perspective on it looking back but I got the impression as well that because it was when he was that little bit older that they kind of felt that it was more likely to be flawed in a way so they didn’t, they didn’t actually seem entirely surprised that it was gonna need a further check.
And he’s eight months at this stage is that right?
Clare: Yeah.
* Hirschsprung’s Disease
A rare disorder of the bowel, where the nerve cells do not develop all of the way to the end of the bowel. The section of bowel with no nerve cells cannot relax and it can lead to a blockage. Babies all need surgery and may have ongoing problems with stooling normally.
*Footnote definitions:
Congenital
A congenital disorder, means it is present at birth, sometimes known as a birth defect, is an error of development that occurs before birth.
Neonatal Intensive Care (NICU)
A unit for critically ill newborn babies and infants who need the highest level of nursing and medical care. Babies in NICU often require support for their breathing. Those undergoing major surgery will often be looked after in a NICU.
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