Mum's fight to save son from rare disease doctors thought would kill him 27 years ago

Josh Thomas is the oldest person to survive vein of Galen malformation in Australia.

When Josh Thomas was born, his mother was dismayed to find just one paragraph online about the rare disease attacking her baby's brain. He wasn’t expected to live more than seven days.

“They weren't originally going to give him treatment, but he was the first to survive in Australia” his mother Mette Thomas told Yahoo News.

Remarkably Josh defied the odds and is now 27 years old, and is the oldest person in the southern hemisphere with vein of Galen malformation (VOGM). He receives life-saving support from the NDIS but the symptoms Josh suffers from due to his rare brain blood vessel abnormality — seizures, mini-strokes, mood changes and memory loss — are worsening. He’s in need of medical help that can only be performed overseas.

Left - Josh Thomas as a baby in hospital with a tube in his nose. Right - Josh as and adult and his mum hugging.
Josh Thomas was expected to live for more than seven days, but since then he's experienced 27 birthdays. Source: Supplied

When Josh received the same treatment in 2019, it renewed his quality of life. Back then the procedure cost a comparatively low $40,000, and his family was able to remortgage their house to pay for it. But just five years on, the cost is expected to be almost double, and this has forced Mette to resort to fundraising to get her son the United States.

“Costs have gone up astronomically — everything from flights and accommodation to treatment. We also have to bring two workers with us instead of one because Josh needs 24/7 care now,” Mette said. “We’re getting there, but it’s really getting down to the line and raising the money is becoming a struggle, so we’re concerned.”

While donations have been trickling in, not enough money has been raised. And Josh's family is facing financial hardship if they can't secure more. If you’d like to donate to Josh’s cause you can do so here.

Josh as a baby in hospital and Josh as a young boy.
Josh has suffered from seizures which have affected his movement and memory. Source: Supplied

Josh reveals 'frustrating' impact of pain and memory loss

Josh spoke to Yahoo from his home in suburban Melbourne, explaining he’s had headaches and been extremely sore over the last few weeks, particularly his shoulder, legs and worst of all his back. Walking and concentrating on complex tasks has also become more problematic. “It annoys me and I can’t find the words or anything. It is frustrating — trust me,” he said.

Despite his ailments, Josh is hopeful for the future. Once he’s feeling better he wants to start a small business and use his sewing machine to produce cloths for cleaning. But for now he’s unable to make them because his fine motor skills have deteriorated. “I can’t unless you want to sew my hands together,” he lamented.

Left - Josh Thomas smiling and wearing a tuxedo. Right - Josh in a hat and sunglasses and sitting in an wheel chair
As Josh's symptoms have worsened, his ability to walk and speak has been compromised. Source: Supplied

Josh's harrowing decline after series of strokes at 16

Josh was born with epilepsy and he also suffered multiple strokes. And while he has an intellectual disability, he’s considered to be high functioning. He was initially treated with neuro-radiology, but because this led to complications, methods have now changed. Based on what clinicians have learned from Josh and several other patients around the world, procedures have changed.

“Survival rates are better. They’re still not phenomenal, but they’re better,” Mette said. “We’ve been flying in the dark a lot of the time, trying to figure out what to do because there aren’t many people with [VOGM] who are older than him.”

When Josh was 16, his condition worsened and his mum wasn’t sure what the future would hold. By 17 Josh was continuing to decline and his doctors believed he was showing signs of dementia.

“He was losing a lot of his speech, and he wasn’t clear. He wasn’t able to be awake very long and was sleeping for at least four hours every day. He was also incredibly angry and violent – there was no happiness in him at all,” Mette said.

Overseas treatment improves movement, fights off dementia

With his symptoms worsening Josh's clinicians were at a loss and discharged him from their care. With nothing to lose, Mette decided to sign Josh up to a new overseas treatment she saw on a television current affairs show.

It involved placing an anti-inflammatory injection through the C3 vertebrae to remove the protein that strokes and seizures leave behind. While it doesn’t correct the damage, it removes the artefacts left behind, allowing messages in his brain to flow correctly.

“We thought bugger it, we’ll give that a go. And he responded so favourably that I don’t think he could be regarded as having dementia anymore. He has memories of childhood, kindergarten that he never had. He can contribute to conversations when we’re sitting around having dinner. And he’s got back a lot more movement,” Mette said.

“Everything was good until 12 months ago when we could see it all happening again. He’s going downhill, he’s losing clarity of speech. You ask him a question and he’s not quite sure of the answer. He’s really struggling, and he’s really angry again.

“He’s not quite at the stage he was at last time, but we can see where he’s heading and we don’t want him to go there.”

Mette is hoping Josh will get this procedure again this year. By the time he needs it again she's hopeful it will be available in Australia.

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