When you hope for a bad diagnosis

When getting a diagnosis is the hardest part ...
When getting a diagnosis is the hardest part ... Photo: Getty

My wife's heart sank at the supermarket checkout. Two loaves of bread. BEEP! A pack of wraps. BEEP! A box of Weet-Bix. BEEP! Each one was necessary. Each one was going to make our four-year-old feel terrible. Cramps, diarrhoea, tiredness, irritability. But the only way to diagnose our gluten-intolerant son - was to ‘torture’ him for two months. Here we go again.

Our little fellow started life with a few challenges. He spent a couple of weeks in-and-out of ICU, as he couldn’t latch onto mum and struggled to put on weight. He screamed from terrible reflux which took months for the doctors to diagnose. But by the time he was two-and-a-half things seemed to settle down. In fact, he was becoming too settled.

He started getting tired. Dead tired. Lethargic. Despite adequate sleep he had constant bags under his eyes and soon wasn’t eating properly. Things weren’t going well at the other end either. He had terrible diarrhoea and his toilet-training competence started to go backwards. His eczema was flaring up too; first his ankles and shins, and soon his back. Sometimes the scars would look like he’d come off a motorbike. We booked blood tests and a visit to the paediatrician.

‘He has low iron levels, low white blood cells and a slightly-raised transglutaminase reading.’ This he explained, was a potential marker for coeliac disease; an autoimmune disorder where your small intestine reacts when exposed to gluten. We saw a paediatric gastroenterologist who told us to include more iron-rich foods in our son’s diet. And we did ... for two months, with no visible improvement. It was time for more serious action.  Further blood tests, and this time - an endoscopy. The doctor would inspect our son’s small intestine, taking biopsies and looking for damage that usually indicates coeliac disease. In our case, there was no damage visible. No damage, no diagnosis. More blood tests to follow up. The results were poor.

Our three-year-old boy had terribly low iron levels, despite a good diet. The paediatrician started him on a supplement, but after a month or two the blood tests showed no improvement. His preschool teachers were concerned he was sleepy, a bit irritable and not quite himself. We couldn’t wait any longer. After more than a year of worries, more than six months of blood tests, theories, poking and prodding, my wife and I made the phone calls. We told our GP, the paediatrician and the gastroenterologist we were going gluten-free.

It’s a neat little phrase ‘gluten-free’. Sounds like you just choose a different packet on the supermarket shelf for that family member. But the tiniest amount of gluten will trigger a reaction, so the whole household has to be ‘in’. We emptied all the offending food from the pantry, boxed it up and gave it to the babysitter. We ran the food containers through the dishwasher. We threw out our toaster, and bought a new one. But my god it was worth it.

Within the first week or two, we saw changes. It was February 2013 and we were getting our little boy back. His diarrhoea and eczema went away. So too the terrible bags under his eyes. And in place of these things we saw the energy, the sense of fun we hadn’t seen for ages. He was less anxious, he showed interest in food. His next blood test confirmed it; iron levels and white blood cell count both up to healthy levels. All we needed to do was stay vigilant and things would be right. Sure we had a couple of accidental slips - like the allegedly “gluten free” fish and chips that made him ill for days. But for eight glorious months he was back. Then the old symptoms started to return.

The tiredness, the irritability, the bags under his eyes. Was something else happening in his little body? The specialist suggested we put our four-year-old on a two month ‘gluten challenge’. To deliberately feed him the foods that made him ill. All for an endoscopy and that elusive coeliac diagnosis. It went against every parenting instinct we had, but we couldn’t see an alternative. My wife went to the supermarket, and watched as each of the banned foods scanned past, with a cheery ‘BEEP’. I bought another toaster and labelled it ‘gluten’.

The effect was immediate. Stomach problems first, then longer afternoon naps. His anxiety was getting worse; his meltdowns more dramatic and more frequent. He had little energy, and struggled to concentrate. My wife and I gritted our teeth, supported each other and kept going. But there were some benefits; once again our son was able to eat the ‘real’ birthday cake at a friend’s party. And we enjoyed sandwiches that didn’t taste of disappointment in every bite. Every small pleasure was appreciated as we watched the calendar and counted down the days to the endoscopy.

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“No, no! I want to go to beach! I want to go to beach!” We’d barely entered the hospital’s reception area, and our son knew what was coming. “I don’t want! I don’t want!” He wriggled and squirmed as I scooped him up and strode with my wife towards the waiting room. We eventually calmed him down, and my wife took him in with the anaesthetist. She returned, I handed her a takeaway coffee. It was over. Eight weeks, two long months of making our son feel terrible for the sake of a diagnosis. We waited for the ‘gastro guy’ to emerge from surgery.

“I’m afraid the photos don’t show the damage we were looking for.” he explained. It didn’t make sense. The coffee tasted bitter. The gastroenterologist went through all the symptoms our son showed when on and off gluten. (Yes, yes we knew all that.) “But unfortunately in medicine there are often ambiguous situations.” he explained. And all we could do was to stay strictly gluten-free and retest in two years time.

So once again we’re buying loaves of bread that are half the length and twice the price. We’ve swapped Vegemite for gluten-free Ozemite. And we’re received the full blood analysis which shows no signs of the more serious diseases. We didn’t get our official result, we didn’t work out why things went pear-shaped late last year, but right now, our little boy is looking better. And that’s enough.

Coeliac disease now affects around 1 in 70 Australians, and 80% of those people are undiagnosed leading to higher risks of infection, infertility and some forms of cancer.

This week is Coeliac Awareness Week.  For more information, visit coeliac.org.au

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