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Sharon had no idea her boy’s mystery condition could affect his eye sight and his weight…
Here, Sharon, 39, tells the story in her own words.
Clipping onto his side, my bub, Joel, rolled his way across the room. My little guy found crawling difficult, but he wasn’t going to let that get in his way – he had places to be! ‘You’re my little Joelly Rolly Polly, aren’t you?’ I cooed.
It was adorable, but I couldn’t help but worry. Missing his milestones, he struggled with balance and one or both of his eyes would turn outwards. At 18 months, Joel was diagnosed with a lazy eye.Thankfully, he took his first steps six months later. But, as he grew up, it was clear he was different to other kids. Starting daycare, he hardly played with the toys or the other children. No matter how many doctors I took him to, no-one had an answer. But I had an inkling.
A mum of four, my eldest, Emmily, then seven, had autism, and I suspected that Joel did, too. Then, when he was four, my boy gave me a scare. His eyes flicked back and forth at super speed and wouldn’t focus. Is he having a fit? I panicked.
But as quick as it had started, the terrifying vibration stopped. Worried, I was referred to an ophthalmologist. ‘It looks like nystagmus,’ the specialist said after examining my boy. The condition, known as dancing eyes, caused them to make repetitive, uncontrolled movements. It could also affect balance and coordination. Although it made sense, my mum’s intuition told me otherwise.
Desperate for answers, I took Joel to every specialist under the sun. When we finally visited a neurologist, my boy had turned six. By now, Joel had developed a worrying tick, like a Tourette’s sufferer. As he walked, he’d flick his head to one side, like he was trying to sweep his hair out of the way.
Over the next few years, he was tested for every possible condition that his symptoms matched. But they all came back negative. ‘How’s my little puzzle?’ Joel’s neurologist would ask, playfully. Always coming out with cheeky one-liners, Joel was a delight. But soon, he began to have horrifying meltdowns. Grabbing a knife from the kitchen, he’d lock himself in the bathroom. One time, he threw a dining chair across the room with strength that belied his tiny frame. What’s happening to my beautiful boy? I fretted.
Prescribed an anti-psychotic by a child psychiatrist, Joel became his sweet self again. Always a slight kid, by his 10th birthday, he’d started to pile on the kilos. Like his siblings, he ate well and they were all a healthy weight. Joel didn’t like different foods touching, so for his lunch box, I’d prepare little containers filled with cold meat, cheese, cherry tomatoes and his favourite, cucumber.
Weight gain was a side effect of the medication he was on. But this is out of control, I thought, worried. Coming off the meds, my boy’s anxiety skyrocketed again. There was no choice – he had to take them, but the dose was reduced. Prior to starting it, he’d weighed 38 kilos. Two years later, at 12, Joel tipped the scales at 96 kilos.
Early last year, we received one answer – he was diagnosed with autism. Now that it was official, I could finally start to get Joel the help he needed, like a regular teacher’s aide at school. Six months later, after working with a geneticist who had cross-referenced Joel’s genes against thousands of others, we got some more news. Pushing the trolley in the supermarket, my phone rang. ‘Sharon, I’ve found it,’ he exclaimed.
My boy had a rare genetic condition called Bardet-Biedl syndrome, affecting just 150 other Australians. Along with vision problems, it could lead to autism, learning difficulties, kidney failure, liver and heart disease, and obesity! Joel’s genetic makeup caused his fat cells to store more than they needed.
Now 13, Joel weighs 124 kilos and uses a wheelchair to ease the pressure on his knees. His diagnosis means he’ll always struggle with his size, but with hydrotherapy, gentle exercise and diet, it can be managed. While strangers take sideways glances, we’ve only had one truly horrible experience.
Sitting in a cafe, a man sidled up to our table. ‘Look at you, you fat little turd,’ he spat at Joel, before stomping away. But Joel just smiled calmly. ‘Mum, I think there is something wrong with him,’ he said. His reaction was so cool, I had to laugh. But I felt angry. Don’t call my boy fat! I thought. It’s very easy to judge a book by its cover, but you have no idea what’s going on behind the scenes. I know he struggles, but Joel’s ability to keep his head up high is inspiring.
Recently, he started going to a special school where his needs can be properly met. Gushing about it to his occupational therapist, he made the most profound statement. ‘I feel like I belong,’ Joel grinned. To me, that means the world.
As part of Joel’s therapy, he uses swings to improve his sensory issues and balance. Visit gofundme.com/carterjd to contribute to Joel’s very own portable therapy swing set.
Read more in this week’s issue of that’s life!
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