Chris*, 4, has had what his mother, Sarah*, describes as abnormal bowel movements his entire life: “mucousy stools”, diarrhoea, and needing to go to the toilet multiple times a day.
But when Sarah and her husband first took their son to see various doctors in Melbourne, they were told it was “toddler diarrhoea” and “normal for little boys to have loose stools”.
For a while, Sarah says she believed them.
“We had a daughter beforehand and so we thought, ‘Oh, maybe it is just boys, because he eats everything,'” she says.
“We then trialled a lot of dietary things to see if that helped, but we didn’t notice any difference.”
Shortly after the family moved to Swan Hill in regional Victoria, Chris began passing blood in his stools.
As a nurse who has treated children with inflammatory bowel disease (IBD), Sarah says the blood was a “big red flag”.
Even then, she had to keep pushing for tests until they were eventually referred to the Royal Children’s Hospital in Melbourne.
One doctor told her he would “eat his shoe” if Chris had IBD. But Chris was diagnosed with very early onset IBD, a rare form of the disease, at three years old.
In all, it took 18 months to get his diagnosis.
More than 100,000 people in Australia are thought to have IBD, with up to a quarter being children and adolescents.
And experts say the disease is becoming more prevalent.
What is IBD and how is it treated?
IBD refers to a group of chronic inflammatory conditions which primarily affect the gastrointestinal tract and cause damage to the bowel.
It is an autoimmune disorder, meaning the body’s immune system attacks healthy tissues.
The exact cause of IBD is still a mystery.
A study published this week in Nature uncovered a genetic susceptibility to IBD in around 95 per cent of people diagnosed with the condition.
While this may lead to potential drugs to treat the condition in the future, the specific factors that trigger disease development, however, are still being uncovered.
IBD symptoms can vary between people, and include changes in a person’s bowel frequency, diarrhoea, bloody stools, stomach pain and weight loss.
Ed Giles, a consultant paediatric gastroenterologist at the Monash and Royal Children’s hospitals, says IBD shouldn’t be confused with irritable bowel syndrome, or IBS.
“They can share some of the same symptoms, but the underlying damage to the bowel [in IBD], the consequences, and the need for surgery and immune suppressive therapy is extremely different.”
Dr Giles says IBD is a “hidden disease”, rarely discussed by people living with it, perhaps out of embarrassment.
“Often when I diagnose patients, which I do very frequently, unfortunately, a lot of people will say they’ve not heard of it,” Dr Giles says.
Diagnosis typically involves an initial blood and stool test, followed by a colonoscopy and gastroscopy for confirmation.
Once diagnosed, Dr Giles says treatments differ for each patient, depending on their age, the form of the disease, and how well they respond.
The short-term treatment for one type of IBD, Crohn’s disease, typically involves a liquid-based diet. For another type, ulcerative colitis, it is medication such as anti-inflammatory drugs.
However, Dr Giles says the “vast majority of patients” with both conditions will need some form of immune-suppressing medication in the longer term due to their overactive immune system.
IBD rates in children
By definition, very early onset IBD is diagnosed in children younger than six years.
This group represents approximately 10 per cent of all under-18 cases of IBD in NSW, according to Shoma Dutt, clinical lead of the IBD service at the Children’s Hospital at Westmead.
Children with very early onset IBD usually have an underlying genetic or immunological disease driving their gut inflammation, Dr Dutt says.
“This group can face a more severe disease, need earlier biological treatments, and specific treatments for any identified immune deficiency.”
The incidence of very early onset cases has remained stable over the past decade, she adds.
But, “there has been a clear increase” in the overall number of children and adolescents diagnosed with IBD, locally and globally.
“Everyone’s experiencing this phenomenon of seeing more inflammatory bowel disease than ever before,” Dr Dutt says.
Some 90 – 100 new cases of paediatric IBD (up to 18 years of age) are now diagnosed each year at Westmead Children’s Hospital, compared to less than 50 in 2013.
“Our population hasn’t increased twofold or threefold, so I feel it’s a true find in incidence,” Dr Dutt says.
“Population data in places where there’s been studies show that as well.
“We’ve got three children’s hospitals in New South Wales and they are seeing the same phenomenon.”
She adds that the incidence rate of paediatric IBD doesn’t include people aged 16 to 18 years who may present to and be managed at adult centres.
What causes IBD in children?
Most people aren’t born with IBD, so what triggers an immune system to attack its body?
One possible cause is an immune system malfunction where it responds incorrectly to, say, a viral or bacterial infection, and attacks and inflames the digestive tract.
Researchers are working to understand the impact of genetic, environmental, and other factors in the disease, including the balance of bacteria in the gut, called the gut microbiome.
UNSW gut microbiologist Georgina Hold leads a national study investigating changes in people’s gut microbiome, diet, and IBD symptom onset.
So far, the study has recruited 1,000 participants — those with and without IBD, as well as first-degree relatives of IBD patients — ranging from the age of six years to 80.
“A lot of the risk factors associated with IBD, which are genetics and environmental factors and the microbiome, are shared by your first-degree relatives,” Professor Hold says.
“But the increasing incidence of IBD in the past 100 years can’t be explained by genetics, because genetics haven’t changed that quickly over 100 years.”
A clue might be in what we eat.
The study includes analysing the levels of emulsifiers, which are added to stabilise processed foods, in participants’ stool samples.
“We were able to show that people with IBD were consuming more emulsifiers than healthy controls,” Professor Hold says.
They also found the emulsifier intake was higher in children compared to adults.
The study shows an association between emulsifier levels and IBD symptoms, not necessarily a causative effect.
But further research in the IBD space is essential and needs to be supported, Professor Hold says.
“People take for granted that we know what IBD is and it’s not important to understand IBD, but it absolutely is. There’s so much we have yet to understand.”
Trust your instincts
At this stage, Sarah says it looks like her son has ulcerative colitis, adding that the form of IBD can also change with his age.
“We’re in a period of uncertainty,” she says.
Chris, who is now about to start school, took an anti-inflammatory medication for almost 12 months, but didn’t respond to the drug as well as the doctors had hoped.
He has since completed two rounds of steroids and recently started on an immunomodulator, a drug used to change the body’s immune response, alongside the anti-inflammatory drug.
Children with IBD face a lifetime of immunosuppressive and biological treatments to control their condition, Dr Dutt says.
While there is no restriction to or lack of medications like anti-inflammatories, there are pharmaceutical benefits scheme criteria for using more complex “biological” drugs which target specific parts of the immune system.
Only one class of biological drugs is available under the pharmaceutical benefits scheme to treat IBD patients under the age of 18 in Australia.
There are other classes of biological medications available if a child needs them, but hospitals usually don’t have the funding for them, Dr Dutt says.
“We know that the best outcome for any child with IBD is to switch off their disease as early as possible with the right drug at the right dose and frequency, as this will protect the child from the long-term consequences of active disease.”
Sarah’s advice to parents who suspect their child may have IBD is to get a second opinion, “if you still think something isn’t right”.
“The parents know their kids best and just because one doctor says there’s nothing wrong, keep pushing for further investigations,” she says.
“If you ever notice anything or you’ve got concerns, just insist on a blood test because that can tell you so much about what’s going on inside.”
*Some names in this article have been changed.
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