The Weekly Advertiser Horsham

‘I love him’

- BY SARAH MATTHEWS

After several years of searching for answers, Pomonal couple Belinda and Tim Wethers left Melbourne’s Royal Children’s Hospital in July in utter despair.

When their son Bodhi, 6, was diagnosed with alpha-mannosidos­is – a rare, incurable and degenerati­ve storage disorder affecting about 200 people worldwide – doctors ‘pretty much said there was nothing they could do’.

“We left the hospital with no hope,” Mrs Wethers said.

“They offered to hook us up with Make-a-wish. It was devastatin­g.”

Refusing to accept nothing could be done to stop Bodhi’s condition progressin­g, the Wethers embarked on their own research.

They formed a relationsh­ip with the founder of a rare diseases organisati­on in New Zealand, which resulted in an appointmen­t with an oncologist and ultimately, hope.

John Forman started not-for-profit Rare Disorders NZ in 2000 as a way to help families navigate the health and disability system, while promoting research into rare diseases.

“He had two twins with alpha-mannosidos­is, but they weren’t diagnosed until their late teens,” Mrs Wethers said.

“When we told him the doctors said there was nothing they could do, he got quite angry and said there was something we could do.

“He called a contact at the Royal Children’s Hospital and told us we needed to get a referral to a certain oncologist, who could talk to us about a bone marrow transplant. It was too late for his kids to get one, but he has dedicated his life to helping people like us.”

Alpha-mannosidos­is is a lysosomal storage disorder, characteri­sed by an inability to properly break down certain groups of complex sugars in the body’s cells.

The accumulati­on of waste affects many of the body’s organs and systems. Signs and symptoms vary, but often include mild to moderate intellectu­al disability, hearing loss, weakened immune system, distinctiv­e facial features and ataxia, a failure of muscle control leading to movement disorders.

Mrs Wethers said while a bone marrow transplant did not offer any guarantees, anecdotal evidence showed it was the best chance Bodhi had to stop his condition progressin­g.

“Through a Facebook support group, we have been able to form relationsh­ips with other families experienci­ng alpha-mannosidos­is or similar conditions and have learnt of their success with bone marrow transplant­s,” she said.

“We’re hoping if Bodhi has one in the near future, it will replace his marrow with an enzyme that actually does work and should stop any further progressio­n.

“With his disease being so rare, there is obviously a lot of unknown, but from the people we’ve spoken to, it’s pretty much his only hope.

“If we didn’t do a bone marrow transplant, he’d be in a wheelchair in his 20s with a likelihood of death around 30 or 40, maybe a little later.

“Cognitivel­y, he will also continue to decline, as the disease leads to like a childhood dementia.

“There is only a small window if you’re having a bone transplant, which is why the sooner they get a diagnosis, the better chance they have.

“Most of the families we spoke to said their children would have passed away without the transplant.”

After weighing up the risks and making the decision to push ahead with the transplant, Mr and Mrs Wethers questioned how they could speed up the process.

After discoverin­g Bodhi’s best match would be a sibling, they spoke to their other four children, Charlie, 14, Billie, 12, Dusty, 10, and Tully, 5, about undergoing testing.

“When it came to getting a blood test they were all a bit nervous of the needle, but Billie was probably the most anxious,” Mrs Wethers said.

“Of the four, Billie was the only 100-percent match, the others were all a 20-percent match.

“When Billie came up as a match, we told her she didn’t have to do it, but she said of course she would, because Bodhi needs it. She said she would do whatever it took to support him. “All of the kids were really brave.” Billie, who is in year seven at Marian College in Ararat, said she was happy to be able to help her brother.

“I didn’t think it was going to be me. I thought I’d be the last person to do it,” she said.

“It’s pretty surprising and overwhelmi­ng at times but I’m glad I can help him.

“He’s funny and cute and I love him.”

Mrs Wethers said Billie had been ‘amazing’ throughout the process.

She said testing revealed Billie was a carrier, but as she had only one copy of the gene, she could still donate.

“The disease is a recessive one, which means Tim and I are both carriers for it,” she said.

“We haven’t had the other kids tested yet. We know it’s unlikely they have the disease, but they could be carriers, so we’ll get to that at some stage. It won’t affect them now, but it will in the future when they’re looking to start families.”

Mrs Wethers said she and her husband always knew ‘something else was going on’ with Bodhi, but could not pinpoint what it was.

“He started walking at 18 months but he never crawled, he kind of just bum-shuffled,” she said.

“That’s when we also discovered he was deaf. He’d be crying for us but couldn’t hear us yelling out to him.

“For many, alpha-mannosidos­is starts with hip dysplasia, then hearing difficulti­es and global learning difficulti­es.

“We requested a referral for a genetic appointmen­t because we felt there were underlying issues we’d been missing.”

Mrs Wethers said a chance spotting of an article about a child with a rare disease in a Ballarat newspaper helped shed some light.

“As I was reading the story, I realised Bodhi ticked every box,” she said.

“We had an appointmen­t with the Royal Children’s Hospital via Webex, and we showed them the story, which helped them fine-tune what to test for.”

Mrs Wethers said she wanted to share Bodhi’s story with The Weekly Advertiser in the hope it might help another family.

“Maybe if they read this and notice some of these symptoms in their own children, it could help with a diagnosis,” she said.

“Bodhi’s hearing screen as a baby was normal but it had degenerate­d in a couple of years to severe hearing loss. He didn’t sleep well, had sleep apnoea, for a long time he had constant diarrhoea and as a baby he had continual chest and ear infections, another alarm bell.

“His symptoms also include muscle tightening, significan­t learning difficulti­es and severe behaviour – which we’re not sure if it’s related or not.

“He also has what they describe as ‘coarse facial features’ which is why we initially thought maybe Down syndrome. An enlarged forehead is another identifyin­g factor of alpha-mannosidos­is.”

Mrs Wethers said Bodhi had undergone a range of tests and treatments in the past few months and was meeting with his oncologist yesterday to discuss when the bone marrow transplant could occur.

He also had casts placed on both legs because his muscles were starting to shorten.

Mrs Wethers, who is principal at Pomonal Primary School, said although Bodhi had a long road ahead, he remained in good spirits.

“He’s been lucky enough to be still going to school throughout the pandemic,” she said.

“We have 17 students and they are all so supportive of him.

“Bodhi loves looking after his chickens and his schedule revolves around putting out the bins at home and at school – he loves it.

“We are hoping after the transplant he will be able to live a positive, happy life.”

 ?? Picture: PAUL CARRACHER ?? WHATEVER IT TAKES: Pomonal’s Billie Wethers, 12, will donate some of her bone marrow to her younger brother Bodhi, 6, in the hope it will prevent his health from further deteriorat­ing due to an extremely rare disease.
Picture: PAUL CARRACHER WHATEVER IT TAKES: Pomonal’s Billie Wethers, 12, will donate some of her bone marrow to her younger brother Bodhi, 6, in the hope it will prevent his health from further deteriorat­ing due to an extremely rare disease.

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