One thing that this journey of motherhood has taught me – always expect the unexpected, well that is true for some mothers.
Hirschsprung’s Disease – sound familiar? It was the first time I had ever heard this name, when it was mentioned to me as a possibility of outcomes in the testing room when my 1 year 4month old son, Rylan was sent for tests for some problems that increasingly became worse since birth. Born on 25th of September 2020, at 4,03kgs, Rylan was a beautiful big healthy baby boy who made the biggest impact on us all.
We patiently awaited his arrival after 13 hours of a long and very stressful labour which ended up been an emergency C-section and leading to Rylan been resuscitated at birth. I only got to see my beautiful baby boy the following day after his birth. I was wheeled in to see him the next day when I was awake, a moment I looked so forward to, holding him next to me and breastfeeding him for the first time. Days soon passed and we were discharged from hospital and got to go home to our families who waited so patiently to meet him.
Months went on and I continued on my breastfeeding journey with him, how I loved this special bond we shared, but something seemed a bit off when it came time for Rylan to pass stool after his feedings throughout the day, he would
Strain to pass his stool and turn red whilst he pushed, when he did eventually pass it, it would come out with a lot of pressure, like an explosion. Days would go by and even weeks without him passing stool at times, however I was re-assured by everyone including his paediatrician and from my own research that this was normal in breastfeeding only babies. His Paediatrician assured me all was fine with him on his check-ups and that he had passed his meconium after 24hours since birth, which was within the 48hour time frame they are meant to pass meconium, so I had no need to worry about anything.
He started solids once he turned 6 months and this issue of passing stool and straining became noticeably worse and now he was suffering with constipation, something which I was once again told is to be expected once babies start on solids. I couldn’t help but feel that maybe it was what I was feeding him or that I introduced too much at once and he was failing to process and digest all these new textures of foods.
Rylans paediatrician kept ruling this off as something called ” Intestinal Neuronal Dysplasia”, something common in babies and was adamant that he would grow out of it with time as babies usually do, nothing a dose of laxatives couldn’t sort out. The funny thing is that with all the laxatives and medication he was put on to try and get his tummy to work, the effectiveness of the medication would be short term and they would stop working.
Rylan was meeting all his milestones in terms of growth, development and weight, so there were absolutely no tell-tale signs that there was any problem, besides the biggest issue that kept worrying him and us – his tummy problems. From birth, he always had quite a big stomach which everyone just ruled off as part of him been a big baby with a big appetite, but the funny thing is he didn’t have a big appetite as everyone thought he had. I still remember a few comments many outsiders would pass that I am overfeeding him as they looked at his big belly. Everyone would mention that it is his diet causing all the problems with constipation, which in the end became quite offensive to me as his mother hearing this, as I knew that we gave him everything under the sun in his diet to promote a well-functioning gut – prunes, flaxseed, chia seeds you name it. As the months passed, the constipation got worse and he would scream out in absolute pain and agony with each stool he made. He soon developed a Fissure from all the stress and pain the constipation was causing him. As a mother and everyone who saw him trying to pass stool, it would bring one to tears seeing the pain he was going through just to pass a simple stool.
Off again we go to the paediatrician’s a few months later, and once again the diagnoses of Intestinal neuronal dysplasia was given and another prescription for a laxative and suppositories came our way, this time with the laxative dose increasing. We tried the prescription once again even though the previous few times we had tried, they did nothing for him, this time suppositories were added in on top of the laxative. We kept the faith that maybe this time it would be different and would actually work.
I took advantage of this time, as I was away from work for a few months on our off crop season and I had the time to really get to the bottom of this issue my son was having, that in the end affected us all so greatly seeing the problems and pain it was now causing him. Something weird happened when I tried inserting the suppository up Rylan – it couldn’t even go up. I found this very odd at how tight his behind was. The laxative dose as per before, still wasn’t working, even with the increased dosage.
We went to a local clinic to see a GP for a 2nd opinion on the matter and also to request a referral to another paediatrician. The doctor looked at us with such confusion when we explained the issue at hand – she examined Rylan and shared the same sentiments, that there was absolutely nothing wrong with him and it is probably something he will grow out of, but she wrote the referral that we insisted on to another paediatrician. After seeing the second doctor, all doubts set in our minds that maybe we were just looking too much into the issue, if all professionals that we have seen so far seem to think there is no issue with him. Days went by and Rylan’s issues persisted, with each passing day the pain would get worse and his screams would get louder on passing stool and some days no stool at all would even come out despite his efforts.
We finally took the plunge and went with our second referral letter to see a different paediatrician. We explained the issue at hand and He examined him and noticed his Fissure on his behind and mentioned a few other things that were new to us, that had never been mentioned with previous doctors in his examinations. We loved how thorough he was examining him. He felt too that there was nothing seriously wrong with Rylan, but he felt that because of how long he had been experiencing the issues, he referred him for tests straight away, something which we had been requesting at the hands of the first paediatrician which was turned down as she felt there wasn’t any need for tests.
We managed to book him in for the tests for the next day – the test were a Barium Enema and a 24hour X-ray. He had to starve for a few hours before having the test. As I lay my son down on the testing table and tubes were inserted into him from his behind and his screams filled the room with the discomfort he felt as liquid was pushed up into him, my heart broke each time, but I also felt a sense of relief knowing that maybe we will get answers as to what is causing the problems he was having. We had an audience of students surrounding the testing doctor and as he went through the procedure, he spoke about all the possible things that could be causing his problems to his student doctors from a local university and my heart pounded at the sound of each scary term been mentioned. He called my mum into the room where he had computer monitors seeing what was happening inside Rylans system, where the dye they had inserted was visible through their computer – he straight away mentioned the first noticeable problem to my mum as I was outside holding my son down andtrying to comfort him.
He mentioned to my mum one problem is his anal opening is too tight. A light bulb went off in my head when I heard him say this to my mum, as I knew I wasn’t going crazy when I tried inserting suppositories into him when he was prescribed these to help with his constipation and they couldn’t go up his behind. The testing doctor carried on with his tests and picked up all the hard stool in my sons system through his screen, showing the flow of the dye in him. Once he was done testing he told us to come back the next day at a specific time where a 24hour x-ray would be done on Rylan to see how the dye they inserted in him would empty and if he would have passed out plenty stool as should have happened, but did not happen in his case at the end of the 24hour xray. We returned the next day and did a follow up X-ray when the 24hours were up. I returned again the following day after the Xray, to collect the result of the overall tests done by myself and off I went back to the paediatrician’s rooms for him to interpret the results without Rylan present. As he opened the letter there was complete silence as he went through the findings and the X-rays. After some minutes of reading the results he speaks and says the test findings have found that your son may have something called Hirschsprung Disease. Hirschsprung disease? What is that I asked him confused – he went on to explain whilst I tried to process everything he was telling me whilst remaining calm. He referred us to a Paediatric Surgeon with these findings, that he mentioned we should see as soon as possible, as he said this was beyond his designation and now had to be put in the hands of someone more specialized in such matters.
I took the results, x-rays and referral letter for the Paediatric surgeon and went and sat in my car – I opened the results he had just read out to me just to make sure what I was hearing and what he had just told me was correct- I called my husband and mum with tears to tell them the results. After calming down I received a call back from my mum telling me she managed to get an appointment for Rylan to see the paediatric surgeon straight away that day and we had to rush there before the cut off time for seeing patients was for that day. I had to rush home to collect Rylan and off we went to the surgeon with my dad and brother as support.
We got to the surgeons rooms on time and waited patiently for our chance to get to see him, he read the findings of the test and the referral from the paediatrician and one of his first words were, “You have been crying”, he re-assured me that all will be ok and cracked some dry doctor humour to lighten up the situation, he mentioned he was more worried about me the mum, than the tough little guy he saw standing and playing before him. He reviewed the x-rays and results and said he had to schedule a biopsy to be done on Rylan as soon as possible, to confirm the findings of these tests and this was the surest way to diagnose Hirschsprungs Disease.
The following week Rylan was scheduled for his biopsy and lucky I was able to be joined by his dad who worked out of town where we stay in the Lowveld of Zimbabwe. 4 February 2022 – the day of his Biopsy – we were up bright an early and off to the hospital where they prepped him for the procedure to be done. It was scheduled for 9am, however 2 other patients were before Rylan and he had to be last as the procedure//biopsy was messy they said, hence why he had to go last. 9am passed and we were still patiently waiting to go inside, Rylan getting more impatient, irritable and hungrier as time passed, lucky I had the extra help of his father to ease the stress of a crying child. 11am we were finally taken in for his biopsy, I held him in my hands as the Anaesthetist administered the anaesthetic over his nose, with each scream, Rylan sucked in more happy gas and eventually dossed off. I lay my baby on the surgeons table and I was asked to leave the room so they could begin the biopsy. Over an hour later, whilst we patiently waited at his bedside in theward for them to call us to the recovery theatre, the nurse finally came to fetch me and I waited next to Rylan in recovery for him to wake up.
The doctor came through a few minutes later and explained his sample from the biopsy had been sent to the lab and we will be called once results come out. He prescribed some pain medication for Rylan for the discomfort and pain he may feel after the biopsy and we were discharged a few hours later. 2 weeks later, the biopsy results were finally out and It was confirmed that he does indeed have Hirschsprung Disease (HD) and the surgeon explained everything in depth about what happens with the disease and what the way forward is. Unfortunately with HD the only way to alleviate the symptoms is through surgery – in Rylan’s case he suggested a TransAnal Endorectal Pull through surgery needed to be done on him, which came as a bit of a relief as in some HD cases from the research I had done, a Stoma will need to be connected through his stomach to the large/small intestine and then later the pull through surgery done. I had become quite the expert with all the terms he used as I dwelled in all types of research regarding this disease upon getting the results from the first tests.
Rylan was scheduled and booked for surgery on the 25 of February 2022.
22 February 2022 – the day Rylan was admitted into hospital, 3 days prior to his surgery for his system to be flushed out every few hours. The flush-outs however were not a success and he went into surgery on the 25th of September without passing any stool, this is how bad it had got for him, that flush outs of his system did not do a thing for him with helping him pass stool. Rylan’s dad travelled back to be with us a day before his surgery and spent his days in hospital with us.
25 February 2022 – the day of the surgery which was scheduled for 8am – the nurse came to wake us up bright and early to remind me not to feed him anything 6 hours before the surgery. As the time got nearer to his surgery, I felt a lump in my throat with both nerves and emotions, we were called into the theatre room where his surgeon and assistant surgeons and anaesthetists and others involved in Rylans surgery were waiting in their gowns/robes and masks covering their faces, a very nerve wrecking and intimidating site for anyone, yet alone a mother leaving her little one’s life in the hands of complete strangers. I held my baby boy, as they once again put him off to sleep, this time the atmosphere more intense and way more intimidating than it was for his biopsy. I handed him over to the surgeons and I headed back down to my husband who was waiting in the kids ward.
Over 6 nerve wrecking hours passed, waiting for Rylan to come out of theatre, with each hour that passed our nerves increased and messages from concerned family members asking why he was taking so long in theatre. Finally, the nurse came down to let us know that they were done with the surgery and I could come up to the theatre ward to see the surgeon and Rylan who was in recovery. I patiently waited for him to wake up and as he began to wake up he became more irritable and groggy from the anaesthetic and pain he was experiencing. The 2 main surgeons involved in Rylans surgery came down to explain that everything went well in Rylan’s procedure and that 15cm of his intestine was affected by HD and they cut off the affected section and a kind warning was given that at some point he may need something called dilation. We were wheeled down to HDU and that was where Rylan spent the next 2 days and the remainder in the general ward.
What was to come after the surgery was something I was never prepared for regardless of how much research I did and how many mothers I spoke to whose kids share the same disease as Rylan. These were the hardest few days in hospital with my son, seeing him in the state he was in and the pain he experienced with endless amounts of stool he was making. Never in my months of motherhood had I changed so many soiled diapers as I did after his operation and the months to follow after that. The days after were a whirlwind of emotions for us all watching Rylan in this bad condition, it was very hard not to tear up seeing him like this. He basically lost control of his bowels and cried out in excruciating pain with each watery stool he made. He lost a lot of weight, he had no appetite what so ever and all that he wanted was breastmilk at the time. In hospital, after his operation he was now been monitored for signs of an infection called Enterocolitis as he was showing possible signs of this, with a high fever, vomiting and other symptoms implying this.10 painful days of been in hospital with Rylan we were finally given the go ahead to be discharged when things began improving – he still had absolutely no control of his bowels and still had excruciating pain but guess what this guy is a soldier, despite all this he still managed to attempt playing and smiling throughout it all. We finally went back home and had many hands waiting to help us with him.
Rylan however developed bad separation anxiety and all he wanted at the time was his mama. These days were absolutely hard, the days and nights seemed endless, sleep was something that never existed at all in my vocabulary during this time. Each time I would change his diaper, he would pass another stool (diarrhoea) that would seep out through the diaper onto the linen saver something that was out of control and it would continue like that the whole night combined with him crying out in pain with each stool made, I remember this so clearly his stomach would make a loud rumbling sound before each stool he would pass, it was endless amounts of stool, sort of like he had made up for all the time he struggled to pass stool over his few months of life. The surgeon and mothers of HD kids who had been down this road before,that I communicated with, did however warn me that this is the side effect of the surgery, endless amounts of stool that will improve in the long run. Days went by and Rylan began developing excoriation on his behind because of the acidic nature of the stool he was passing, due to his intestine been shortened. This made things even harder as his behind had become raw and he even failed to sit on it. These hard days and nights finally started catching up to me and I too became ill. On one side I had a baby that did not want anyone else but me and on the other side I was weak, vomiting and had diarrhoea. My body had finally given in as well, but luckily after 2 days with a lot of nurturing and rest I soon was back to normal and geared up to look after my son again.
Speaking to other mums who had gone through this with their kids, prepared me for a lot of the issues I would face after Rylan’s operation, one mum suggested a magic ointment for nappy rash called Metanium to use for the excoriation which I quickly dashed off to buy and behold the excoriation improved and dried up within a few days and it was one less pain and problem we had to deal with. As the days and month went by, everything was more or less like a blurr, but things began to improve a bit with time, the pain got less and stool reduced a bit and became more solid and life started to feel somewhat normal again.
Life after surgery and living with a child with Hirschsprungs disease has been quite the rollercoaster. Unfortunately Hirschsprungs disease is a lifelong rare disease with no cure, with the cause of it also unknown, but risk factors that increase chances of having it include been male and having a family member/sibling that has it. Surgery makes the disease manageable. Rylan is doing well now, things with this disease have gone from one extreme to the next, from him hardly passing any stool, to him passing stool several times a day, some days still none at all. He loses water faster than an ordinary person due to his shortened intestine hence we have to ensure he stays drinking water, things affect him differently at times compared to how they would affect someone that doesn’t have HD.
25 February 2023 – officially 1 year post surgery and we have a beautiful little 2 year old Tipolilo(Superhero) as he calls himself, that brings so much joy and laughter to our world, It is amazing how as an adult you can gain so much strength and admiration from someone so small watching them soldier on through such a crazy experience.
Fast forward to August 2023, I am currently pregnant and due soon with my second baby boy, all fears running through my head of my second baby having this dreaded rare condition that Rylan has, doctors have been monitoring my baby for this, however in most cases the disease only becomes apparent once baby is born and as the months go on, as in Rylans case.
Our journey of ups and downs living with a child that has Hirschsprung Disease is far from over, Rylan still experiences many issues associated with the disease – we have our good and bad days, but what counts is that he is with us – alive and well and living his best life – Rylan-Our little Hirschsprung’s disease warrior, our little Tipolilo
