Written by Lorna Gannaway

Hirschsprung’s disease

Born on 25 September 2020, at 8lb 13 oz (4 kgs), Rylan was a beautiful big healthy baby boy, who made the biggest impact on us all, but since birth he experienced unexplained symptoms that were worsening with time.

Rylan’s birth had been difficult. My long and stressful labour ended with an emergency caesarean section, but waking up the next day, I had the moment I had been so looking forward to: holding him next to me and breastfeeding him. Over the months that followed, I loved that experience, breastfeeding was a special bond we shared—but I noticed how something seemed a bit off when he tried to pass his stools afterwards. He would strain and turn red while he pushed. Eventually, when he did pass them, they would come out explosively. Days would go by, weeks even, without him passing anything. However, his paediatrician and my own research told me that this was normal in babies who were breastfed. The paediatrician assured me that I had no need to worry because Rylan had passed his meconium 24 hours after birth, within the 48-hour timeframe that is considered normal.

Once Rylan turned six months, he started solid food, and his straining became noticeably worse. Now he was suffering with constipation, but I was told, again, that this is normal once babies start on solids. I wondered if the problem was what I was feeding him, or whether I had introduced too much at once. The paediatrician insisted that the cause was intestinal neuronal dysplasia, which is common in babies, and he was adamant that Rylan would grow out of it in time. It was nothing a dose of laxatives couldn’t sort out, he said. But much as we tried laxatives and prescribed medications, nothing worked for long.

From birth, Rylan had always had quite a big stomach. Everyone wrote this off, saying he was a big baby with a big appetite—outsiders, looking at his big belly, sometimes suggested that I was overfeeding him, but the funny thing is that he didn’t have as big an appetite as everyone thought. People also blamed his diet for his problems, which became quite offensive to me, because we gave him everything under the sun to promote a well-functioning gut: prunes, flaxseed, chia seeds—you name it.

As the months passed, Rylan’s constipation got worse and he would scream out in agony with each stool. It would bring anyone to tears seeing the pain he went through to pass a single stool. Soon, he developed a fissure, which made matters worse.

Our diagnostic journey continues

Revisiting the paediatrician a few months later, we were given the same diagnosis, intestinal neuronal dysplasia, and another prescription. This time we were prescribed laxatives again, but at an increased dose, and for the first time, suppositories. We kept the faith that maybe this time things would be different and the medicine would actually work.

Soon we found that the laxative still wasn’t working, even with the increased dosage, but I noticed something weird when I tried inserting the suppository—it wouldn’t go up.

We went to a local clinic to get a second opinion on Rylan’s problem and to request a referral to another paediatrician. The doctor agreed with the paediatrician that there was absolutely nothing wrong with Rylan and that he would probably grow out of these difficulties, but at our insistence, she wrote a referral to another paediatrician.

At this point, having spoken to a second doctor, we started to question ourselves. Perhaps we were reading too much into this problem. But with each passing day, Rylan’s pain was getting worse and his screams were getting louder. Some days, no stools would come out at all despite his huge efforts.

We finally took the plunge and went to see a different paediatrician with our second referral letter. He listened to us and examined Rylan. We loved how thorough he was as he examined him. He noticed the fissure on his behind and he also mentioned a few other things that were new to us and had never been mentioned by previous doctors. However, he also felt that there was nothing seriously wrong with Rylan, but because of how long these issues had been going on, he referred him for tests straightaway. We had asked the first paediatrician for that, but we were turned down—she felt there was no need.

We managed to book Rylan in for the tests for the next day, a barium enema, followed by an X-ray 24 hours later. I laid my son on the testing table, holding and comforting him as tubes were inserted into his behind. His screams filled the room as a liquid containing barium dye was pushed up into him. My heart broke each time, but I also felt a sense of relief, knowing that we might finally get some answers.

There was an audience of student doctors from a local university surrounding the testing doctor, and as he went through the procedure, he explained the possible causes of Rylan’s problems to them. My heart pounded with each scary term he mentioned. Then, he called my mum into a room where computer screens showed the flow of the dye around Rylan’s system. I heard him describe the first problem he had encountered—Rylan’s anal opening was too tight. I also heard him talk about the hard stools blocking him up.

It was a lightbulb moment—proof that I hadn’t been going crazy when I tried inserting his suppositories.

Diagnosis

Once the tests were over, we were told that Rylan would pass plenty of stools before we returned the next day for the follow-up X-rays, but that didn’t happen. The day after the X-rays, I went back again for the tests. As the paediatrician opened the letter, there was complete silence for several minutes as he went through the findings and the X-rays. After studying them all, he said, “Your son may have something called Hirschsprung’s disease.” Confused, I listened to his explanation, trying to stay calm and process everything he was telling me.

The paediatrician referred us to a paediatric surgeon, saying that Rylan needed more specialised care and that we should see him as soon as we could. I took the results, X-rays and referral letter and went and sat in my car—I had to go through the results that he had just read out to me, to check my understanding. Then I called my husband and mum to tell them the results, through my tears.

Afterwards, calming down, I received a call from my mum, who said she’d managed to get an appointment for Rylan to see the paediatric surgeon straight away, but we had to get there before the last appointment. I rushed home to collect Rylan and off we went, my dad and brother coming, too, to give their support.

Thankfully, we got to the surgeon on time and waited patiently for our chance to see him. After he read the findings and the referral letter, his first words were, “You have been crying.” He reassured me that everything would be OK and cracked some dry doctor humour to lighten the situation. He said he was more worried about me, the mum, than the tough little guy he saw standing and playing before him. He explained that Rylan needed a biopsy as soon as possible to confirm the diagnosis.

4 February 2022

Rylan’s biopsy was scheduled for the following week and, fortunately, his dad, who works out of town, could come along too. On 4 February 2022, we were up bright and early and set off for the hospital. The nurses prepped him for the procedure but two other patients were due to be seen before Rylan—he had to be last because the biopsy was messy, they explained. The slot, at 9 am, passed, with Rylan getting more impatient, irritable and hungry with each passing minute. I was lucky I had his father’s help as I tried to soothe him.

At 11 am we were finally called in. I held Rylan in my hands as the anaesthetist administered the anaesthetic. With each of his screams, Rylan sucked in more gas and, eventually, he dozed off. After I’d laid my baby on the surgeon’s table I was asked to leave the room so they could begin.

More than an hour later, a nurse finally came to take me through to the recovery room, and I sat next to Rylan waiting for him to wake up. The doctor came in a few minutes later and explained that the biopsy had been sent to the lab and we would get a phone call to give us the results. Rylan woke up safely and we were discharged a few hours later with medication to treat any discomfort and pain he might feel after the procedure.

Two weeks later, the biopsy results finally came: Rylan’s diagnosis of Hirschsprung’s disease was confirmed. The surgeon explained in depth what happens with the disease and our next steps. Unfortunately, the only way to alleviate symptoms is through surgery, he explained. In Rylan’s case, he suggested that transanal endorectal pull-through surgery would need to be performed. That came as a bit of a relief, as in the research I had done on the disease, a two-stage operation was described. Since the results from the first test, with all my research I had become quite the expert on the terms I was hearing! Rylan’s surgery was scheduled for 25 February 2022.

22 February 2022

Rylan was admitted to hospital, three days prior to his surgery, so that his system could be washed out every few hours. The washouts were not successful, and he went into surgery on 25 September without having passed any stools. That was how bad it had got for him—the washouts did nothing for him.

25 February 2022

Rylan’s dad had travelled back to be with us the day before the surgery, and bright and early we were awoken by the nurse, who reminded me not to feed Rylan anything within six hours of the surgery. As the time approached, I felt a lump growing in my throat with my nerves and emotions.

We were called into the theatre where the surgeon and assistant surgeons and anaesthetists and the others involved in Rylan’s surgery were waiting in their gowns, with masks covering their faces. It would be a nerve-wracking sight for anyone, let alone a mother leaving her little one’s life in the hands of complete strangers. It was a way more intense and intimidating atmosphere than at the biopsy. I held my baby boy as they once again put him to sleep and handed him over to the surgeons, heading back to my husband who was waiting in the children’s ward.

More than six nerve-wracking hours passed, as we waited for Rylan to come out of the theatre. With each passing hour came increasing nerves and messages from concerned family members asking why it was taking so long.

Finally, the nurse came down to let us know that the surgery was over and I could come up to the ward to see Rylan in recovery. As Rylan began to wake up he was irritable and groggy from the anaesthetic and pain. The two surgeons who had led the surgery came down to explain that everything had gone well. They had found that 15cm of his intestine was affected by the disease and they had removed that part. They kindly warned me that at some point Rylan may need something called dilation. Afterwards, we were wheeled down to the high dependency unit, a ward for patients who need close monitoring but not at the same level as is given in an intensive care unit (ICU), and that was where Rylan spent the next two days.

Life after surgery

What was to come after the surgery was something I could never have prepared for, irrespective of how much research I had done and how many mothers I had spoken to whose kids share the same disease as Rylan. These were the few days in hospital with my son. These were the hardest—seeing the pain he experienced and the state he was in, making an endless number of stools.

Never in my months of motherhood had I changed so many soiled diapers as I did after his operation and in the months that followed. The days were a whirlwind of emotions for us. Watching Rylan in this condition, it was very hard not to tear up. Basically, he 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 whatsoever, and all that he wanted was breastmilk. To add to our worries, he was monitored for signs of enterocolitis (inflammation of both the small intestine and the colon), as he was showing possible signs of this, with a high fever, vomiting and other symptoms.

After ten painful days, Rylan still had absolutely no control of his bowels and he was in excruciating pain, but guess what, this guy is a soldier! He was attempting to play and he was smiling, despite it all. With things beginning to improve, we were given the go-ahead to be discharged.

When we went home, many hands were waiting to help us, but Rylan had developed separation anxiety and all he wanted was his mama. These days were so hard: the days and nights seemed endless—“sleep” stopped being part of my vocabulary.

Each time I changed his diaper, Rylan would pass diarrhoea that would seep out through the diaper onto the linen saver. His motions were out of control and it continued like that the whole night, with him crying out in pain each time. I vividly remember how his stomach made a loud rumbling before each stool. With the endless stools, it seemed like he was making up for all the times he’d struggled before.

The surgeon and the mothers who had been down this road before, had warned me of this side effect of the surgery but assured me that it would improve in the end. Days went by and Rylan began developing sores on his behind because of the acidity of his stools, which was due to the shortening of his intestine. This made things even harder. His behind was raw and he couldn’t even sit on it.

These hard days and nights finally started catching up with 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, I was vomiting and I had diarrhoea. Luckily, after two days of nurturing and rest, I was back to normal and geared up to look after my son again.

The other mums with kids with Hirschsprung’s disease prepared me for many of the issues I would face after Rylan’s operation. One mum suggested an ointment, which I quickly dashed off to buy and, behold, the sores dried up within a few days—one fewer problem we had to deal with! The days and months went by, more or less like a blur, but things began to improve a bit with time: Rylan’s pain lessened and his stools reduced a little in frequency and became more solid. Life started to feel somewhat normal again.

A rollercoaster experience

25 February 2024 and we are officially 2 years post surgery and we have a beautiful little three-year-old—“Tipolilo” (Superhero) as he calls himself. He brings so much joy and laughter to our world; it is amazing how as an adult you can gain so much strength from watching and admiring someone so small soldier on through such a crazy experience.

Life after surgery and living with a child with Hirschsprung’s disease has been quite the rollercoaster. Unfortunately, it is a lifelong disease with no cure, so the ups and downs are far from over, but Rylan is doing well now. The disease has gone from one extreme to the next, from his passing hardly any stools, to his passing stools several times a day. We have to make sure he drinks enough water as, owing to his shortened intestine, he loses water quickly. There are other things, too, that affect him differently at times compared to how they would affect someone who doesn’t have the condition.

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.

Editor’s note: Please get in touch if you would like to share your own Patient Voice story: hello@rarerevolutionmagazine.com

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