Claire

Age at interview: 34

Age at diagnosis: 33

Brief Outline: Claire’s second son was diagnosed with exomphalos* when she was 15 weeks pregnant. He was 18 months old at the time of the interview.

Background: Claire is an occupational therapist, married with two children.

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Claire was interviewed when her son was 18 months old. He was at home during the interview. He has a tracheostomy* and is not able to hear, but is sitting and walking with assistance and is able to sign up to 200 signs.

Claire was pregnant with her second child. She went along for the 15 week scan, not expecting anything would be wrong, and was shocked when the sonographer asked for a senior staff member to come in and take a look at the scan. The sonographers had identified exomphalos*. Claire and her husband were taken into the “bad news” room and spoken to by a specialist midwife. She gave them some information to take home. It was a Friday, and they were given an appointment the following Wednesday with the Fetal Medicine Unit.

Claire and her husband were shocked and upset. Over that weekend they did lots of online research.

The appointment at the Fetal Medicine Unit was very helpful. The baby was scanned again, and they had a meeting with the consultant who explained as much as he could. They had an amniocentesis that day, which came back clear. There were also many other tests and scans, in particular cardiac scans. They were told that there were going to be lots of questions that couldn’t be answered until their baby was born. The pregnancy was very medicalised from there on.

Termination was mentioned in the leaflet, and Claire and her husband were told by the midwife that they would support them whatever they decided. Before they reached 24 weeks, they sought a second opinion, just to make sure that they had all the information they could gather. 

During this time, they went to look around their local children’s hospital and met the surgeon who would be overseeing their son’s care. He explained that with regard to the exomphalos they would use a “paint and wait” approach, rather than immediate surgery. They also had the opportunity to meet parents of a baby who also had exomphalos. They found this incredibly valuable and are still friends today.

After 24 weeks, Claire became increasingly unwell with high blood pressure and she was scanned regularly and admitted to hospital.

The baby was born by caesarean section at 37 weeks in their local women’s hospital. Claire was able to see her son very briefly before he was taken away to the NICU. Within a few hours, it was decided that he needed to be transferred to the children’s hospital where he was put in Pediatric Intensive Care. He developed breathing problems and was put on a ventilator.

Claire found it really hard to be separated from her baby. She was herself discharged four days later and was able to go and visit him. She worked hard to establish breastfeeding, but did not feel well supported with this, although in the end she did manage to feed him with breastmilk via a naso-gastric tube until he was 13 months old. Their baby was not well, with breathing problems and finally, after several attempts to wean him off the ventilator, the decision was taken to give him a tracheostomy. This was a huge decision for Claire and her husband, but was actually a very positive step forward. He still has the tracheostomy* in place now, aged 18 months. Once he had had the tracheostomy fitted he was transferred to the surgical ward, where he stayed until he was 3 months old. He underwent multiple tests and his parents were taught how to look after him with a tracheostomy. 

In terms of his exomphalos, doctors painted his tummy with manuka honey, but did not, and have not yet (at 18 months), done any surgery.  His stomach muscles have not joined together so he will need surgery at some stage to rectify this. He has a constellation of issues, and although they have had genetic tests and seen a genetic counselor, they do not yet have a clear diagnosis. One of the major challenges for him is that he has thin auditory nerves (auditory neuropathy disorder) and is deaf.

Being discharged home was a big step. Their son needed very intensive round the clock care. The first couple of months were exhausting for Claire and her husband, until a care plan was put in place which gives them two nights a week of nursing support. Their son still needs regular medical appointments, and life looking after him is complex.

*Exomphalos
An abdominal wall defect, that occurs when the baby’s tummy wall does not develop fully in the womb. Some of the baby’s intestines and sometimes other organs such as the liver, develop outside the tummy and are covered by the umbilical cord. 

*Tracheostomy
An opening created at the front of the neck to allow a tube to be inserted into the windpipe (trachea) to help with breathing.

Claire had a series of scans, which gradually ruled out other potential problems that might be linked to her son’s exomphalos.

Yes, it wasn’t an easy pregnancy to start off with. I had a lot of bleeding early in the pregnancy and attended the early pregnancy unit quite a few times. And I got to about fifteen weeks and had to get another scan and they told me that the baby’s heartbeat was there, so obviously I was relieved. But the sonographer kind of kept scanning for longer than I would have anticipated and she put the scanner down and kind of said, “I think, you know, there’s maybe something we need to get a doctor to check.” So and she mentioned there was some bowel outside of the baby and I’d heard of, what I now know to be gastroschisis*, and so I kind of tried not to panic and thought, well, you know, hopefully, that’s something that, you know, they’ll be able to resolve, maybe it’s not too big a deal.

So she went to go and get another sonographer, who confirmed that they felt there was a problem there but we had to wait a few days for a fetal medicine consultation so I think that was the Friday and then, on the Wednesday, we went back to see the head of the fetal medicine centre there, who confirmed that the baby did have an exomphalos* and that it was large. They couldn’t see other signs of any major problems but, when we’d had the first scan, we had been given the leaflet, which I’m sure most parents get, with pretty gloomy statistics about what that meant for the baby’s outcome. And, one thing that really sticks in my mind, is seeing on the end of the word exomphalos, the letters ‘halos’ and thinking that doesn’t bode very well. 

So we, when we had the original diagnosis we came home and looked for all the information we could find. We had the GEEPS website, which was really helpful but limited, and I think we just read and read over and over again all those stories and tried to kind of find as much positive information as we could. We also used the internet to try and look for any research studies to try and establish what, what the odds might be. Were there any other options? What should we be thinking about? 

So it was good on the first scan with the fetal medicine consultant that they could see some potential issues. They saw some scoliosis and other things but, on the whole it looked quite good. And then that started off as a series of tests and scans, which went through the whole pregnancy, every week it seemed. We had lots of cardiac scans. I had an amniocentesis, which thankfully came back clear. We also had a, a microarray test for Beckwith-Wiedemann Syndrome, which is linked to exomphalos, which also thankfully came back clear. 

So, as time went on, it looked more positive because we were eliminating some of the potential problems through looking at scans but, obviously, all the time the consultants were saying they couldn’t tell us until he was born exactly how big it would be, what the issues would be. So [laughs] so that was really, it was reassuring as we went on. I felt like we were getting more and more better, positive knowledge, so that was great.

* Gastroschisis
An abdominal wall defect, that occurs when the baby’s tummy wall does not develop fully in the womb. A hole is present next to the umbilical cord through which, the baby’s intestines protrude into fluid around the baby while in the womb, and outside the baby’s tummy after birth.

* Exomphalos
An abdominal wall defect, that occurs when the baby’s tummy wall does not develop fully in the womb. Some of the baby’s intestines and sometimes other organs such as the liver, develop outside the tummy and are covered by the umbilical cord. 

Claire’s consultant was kind and reassuring. He offered her an amniocentesis, which she agreed to, as she was keen to get as much information as she could.

And tell me a little bit about the appointment that you had at the fetal medicine unit.

Very odd feeling being in the waiting room kind of wondering why everybody else was here for. And also it’s quite close to where the main scan department is so I was watching people go in and have their, you know, twelve or twenty week scans and that’s quite surreal. I just felt it was just a very other worldly kind of experience.

We were lucky that the professor of fetal medicine that we saw, was very kind, very reassuring and explained that during the scan, he wouldn’t say anything. He would just really concentrate on the images and then, at the end of the scan, he would talk us through what we’d seen. So obviously, it was terrifying and we were thinking kind of the worst as he was scanning but he was very clear and I felt that he was being totally honest with us, which is, you know, what we kind of needed. And he offered us, at that same appointment, to have the amniocentesis, which we’d already kind of decided that we would want to have. Not because we were clear what we would do depending on the result, just that we felt we wanted the information, so we had the amniocentesis at that same initial appointment. Obviously, we didn’t have the results for a period of time but at least we felt we were getting as much information as we could at an early stage.

Claire found the meeting with the surgeon helpful and was reassured to feel she was on the same page as him in his conservative approach.

Yeah, we had an outpatient appointment with one of the paediatric surgeons and that was really helpful and he was very thorough and spent a long time with us, which, you know, I think bit difficult for a surgeon given they’ve not actually got a patient to talk to, but or to work with but he was he was very thorough. Again, I might have anticipated that he might have been a bit more positive about [son]’s chances but he was very realistic and pragmatic. The hospital that [son] had his treatment at favours the paint and wait approach. So we talked a lot about whether, you know, what circumstances might they consider doing an early closure surgery. But it was really apparent that [son]’s exomphalos was going to be very big. So he told us, at that point, that they would use the paint and wait approach and be very conservative in the management of that, which turned out to be absolutely the right thing to do.

But I felt, we felt that’s what we would have preferred having read a lot about it before the appointment.

So it was reassuring to feel that we were on the same page with the surgeons.

And you had a look around the children’s hospital.

Yeah.

Was that different to the hospital that you were being treated at?

Yes, so I was at the women’s hospital.

Obviously the appointment with the surgeon and [son]’s care, it was, we didn’t know at that stage. We knew that he would have to have a surgical opinion but that might have been that the surgeons visited him at the women’s hospital or it might have been that he was transferred to the children’s. 

So they basically said we’d got to kind of wait until he’s born to see whether they would stabilise him at the women’s and then have the surgeons visit him at the women’s hospital and see or whether they would transfer him across. And, at that time, my preference very much was, if possible, and they were going to take a conservative approach for him to stay with me at the women’s hospital.

Claire said that although they were confident in their local service, they went for a second opinion just so they could be sure they had gathered as much information as they could.

So we had our next or sort of major appointments around twenty weeks, when we had a echocardiogram to look at the baby’s heart and they couldn’t get great scans. So they had a couple of tries and they couldn’t see anything significant but again, told us that, that doesn’t necessarily mean that there might not be other problems that they might not be able to spot. We felt like coming up to twenty four weeks was a big time in terms of knowing that we had all the information available to us. We felt very confident in the advice and the opinions we’d been given at our local service but we chose to have an independent private consultation I think just because we felt we were about to embark on such a difficult time that we weren’t sure what was going to happen. We just felt like once we got past twenty four weeks, we were really committed then, in a way. And so we travelled to London and had our second opinion, which kind of told us what we’d been told already, but it just felt like we’d done everything possible then.

Claire said she wanted to talk about it a lot, but found it hard to be around other pregnant women.

Yes. I think people really didn’t know what to say because people always say, when you’re pregnant, you know, “As long as the baby is healthy.” 

And then, when the baby is not healthy or not in a conventional way, people are a bit unsure as to what to say or how to respond. And I, I think people cope with it in different ways. I didn’t have a problem with telling people about it. In fact, I probably talked about nothing else for a long time. But it just meant that I found it very hard to be around other people who were pregnant at the same time or to talk to them. Because they were nesting and buying things and, you know, going out for lunch and on maternity leave and I was in the hospital. So that was, that was very hard and I think some of the support groups that I found online were extremely helpful in that time because I think it can be very isolating, definitely. 

Claire said she panicked when her husband told her the decision had been taken to transfer their son to the children’s hospital. She felt numb as he went past in an incubator.

And so what happened to you immediately after the birth?

I just went through to recovery, you know, quite straightforward. I didn’t have any major complications other than I bled a lot. So I ended up, a few days later, having some blood transfusions. But so I waited in recovery. My husband went to the intensive care to, once they’d stabilised him, after about an hour, he went to the intensive care and I was by myself in recovery. And then he came back and said that they had made the decision to transfer him to the children’s hospital. Which I completely panicked about and, obviously, was very anxious about that. He was born about four o’clock in the afternoon and I think it was about eight or nine o’clock, they took him to the children’s hospital and they came past with him in the super incubator that they take in the ambulance just to show him to me again. And that was very difficult, very hard to see him with all wires and you could barely see there was a baby in there. And I, I did felt, I didn’t know what to do. They kind of said, “Here’s your son.” And I kind, I couldn’t move so I sort of said, “Okay.” And I didn’t really know how to react or what to feel. I just felt really completely numb. I didn’t, I couldn’t believe, process that that was my baby really.

Yeah

And then he went off to the children’s hospital and I was taken upstairs to the postnatal ward.

Yeah. Do you think that was, are you pleased they did that? Are you pleased you saw him on the way out or?

Yes. I think I am, in retrospect, and they took some photos that I was literally able to have right then so, when I went up to the ward, didn’t have him with me but at least I had some photos. So I am glad I saw him but, at the time, it was very difficult. 

Claire would have liked more information and advice during her pregnancy about how breastfeeding or expressing was going to work once her son was born.

Yeah. And we’d been given the opportunity to have a look round the neonatal intensive care unit at the women’s hospital. So we did feel very supported from a medical what will happen next point of view. But one thing I felt wasn’t well addressed was breastfeeding, actually. Which was really important to me, having fed my eldest son. And so I independently contacted the feeding adviser for the women’s hospital. But again, I think that’s very much the focus becomes on, on the baby and the very medicalised side of things. So normal conversations like breastfeeding don’t tend to, don’t tend to happen.

Did you get anywhere with breastfeeding in terms of the information ahead of time or? 

Yes, I did get a little bit of information about expressing and being able to give that to, to [son] early on. But it was quite minimal and I felt like it was me searching it out rather than it was offered.

And there wasn’t really any advice on how to keep going, you know. And also, and this was a big issue for me, I discovered that they pasteurised the milk that they, you can donate to the milk bank in the children’s hospital but they sterilise the milk and pasteurise it. Which obviously takes away a lot of the goodness from the milk and that’s not the same policy as at the children, The women’s hospital and I didn’t feel I’d been informed about that. So, when we discovered that, it was only after about a fortnight or something and most of the time, he had, he was either on TPN*, so he wasn’t taking it. So it didn’t have a big impact but I, they wouldn’t store the milk unpasteurised for us.

In the milk bank there so that meant I had to express, bring the milk home, take it in every day. I couldn’t use the milk bank facilities at the children’s hospital. Which for, you know, poorly baby, you want to do the best by them and again, that was a really specific example of him not actually getting the same level of care or environment that he would have got in the neonatal unit.

*(Total) Parenteral Nutrition (TPN)
TPN is nutrition is delivered directly to the blood via a vein.

Claire appreciated that her son’s surgeon was clear and honest about what would happen next. She felt they were doing everything they could.

They were very clear, when we were in the hospital, “We don’t know. We’re just going to have to wait and see.” And I remember our general surgeon, who was very supportive in his own way, saying to us kind of the worst time when [son] was just about to have his tracheostomy*, “Exomphalos* major, major problems but we’ll get through it. And he’ll be okay.” So they were they were honest about saying, we don’t know why and we don’t know what’s going to happen next. But we were and we did feel that they were doing absolutely everything that they possibly could and they were very thorough with, when they weren’t sure, running every possible test to try and work out what they could do, so.

* Tracheostomy
An opening created at the front of the neck to allow a tube to be inserted into the windpipe (trachea) to help with breathing.
* Exomphalos
An abdominal wall defect, that occurs when the baby’s tummy wall does not develop fully in the womb. Some of the baby’s intestines and sometimes other organs such as the liver, develop outside the tummy and are covered by the umbilical cord. 

Claire found the early visit to her son very difficult and upsetting.

Yes, he was there for two days and I was, obviously, desperate to see him. And the women’s hospital very kindly arranged for me to go and visit him on the surgical ward. So I went and spent about an hour with him, which was very difficult because I was very upset and I felt like I didn’t want anybody else introducing me to my own child. And that they knew him and they’d seen him and spent time with him and I hadn’t and that was really difficult. I was angry and upset the whole time I was there. It wasn’t, it wasn’t a good experience. And then the, that night, unbeknownst to my husband or I, [son] went into respiratory distress and the following morning [husband] went to the hospital, went to [son]’s bed space, as it had been, and there was no baby there. And went to the reception, and kind of said, you know, “Where is he?” And they said, “Oh, it’s okay. We’ve rung your wife and he’s going to intensive care.” And it turned out they hadn’t actually called me. They called to our home number and spoken to my parents, who were looking after our older son, so I didn’t know, [husband] didn’t know. And so he was down in intensive care. [Husband] was able to give me very brief bits of information but, at that time, they were trying to see if they could not intubate him. They tried to hold off. But he was just very unwell and so they had to put him on the ventilator at that time.

Claire’s baby was in a specialist children’s hospital. Even there, they didn’t have all the answers about her son’s condition or prognosis.

Yes, I think that’s very true. I think the issue with exomphalos* and having that as a diagnosis is, there are so many, such a range of things that there can be problems with and I kind of talked a little bit about it before. But exomphalos is a reasonably unusual condition and actually, the consultants don’t always know, you know, what’s going on and, you know, even his general surgeon didn’t know and there were lots of times when they said, “We don’t know why he’s doing this. We’re not sure how to put it right.” And I think that was, to a certain extent, unexpected that even being in a, you know, the most specialist place we could be, they still didn’t have all the answers.

And they weren’t able to tell us, you know, whether we would find out whether there’d be another diagnosis just round the corner. And I think having internal anatomy which is kind of all the wrong way round, makes it very hard for them to run the standard tests and look at scans in a normal way. So I think it makes it really tricky for the doctors to be able to tell you categorically what’s going on.

* Exomphalos 
An abdominal wall defect that occurs when the baby’s tummy wall does not develop fully in the womb. Some of the baby’s intestines and sometimes other organs such as the liver, develop outside the tummy and are covered by the umbilical cord.

During pregnancy, Claire was introduced to another family with a son with exomphalos. It was lovely to see a happy little baby rather than just the gloom and doom of scans.

That was wonderful. We went to meet with one of the paediatric surgeons at the children’s hospital and we were given a tour of the neonatal surgical ward and very kindly, one of the nursing or whoever she was, she was showing round, said, “There’s another family here, actually, who have a child with exomphalos major-, I’ll go and speak to them and they might be prepared to speak to you.” They were extremely kind and despite what they were going through, they made some time to, to talk with us and show us their little boy, who’s absolutely gorgeous. And we’ve kept in touch since that time and that’s been, you know, really lovely to be able to speak to them. And it was just lovely see a you know, a happy, lovely little baby rather than doom and gloom and scans. So that made it all seem much more real and positive and actually, he was doing really well and was about to be discharged home. So that that very encouraging for when.