SINGAPORE: A groundbreaking and “life-changing” new million-dollar gene therapy has been given to a “butterfly” child for the first time in Australia at the Royal Children’s Hospital.

The development represents a genuine breakthrough for Australians with epidermolysis bullosa, a cruel, incurable and life-limiting rare disease that leaves skin as delicate as a butterfly’s wings and prone to wounds that never heal.

Melbourne’s Jacob Burmeister, aged 4, has a severe form of EB and has been quietly undergoing treatment with the drug, a topical gel called beremagene geperpavec, since December last year.

It was the culmination of a mammoth 18-month effort by the RCH to get a one-off approval for Jacob from Australian regulators — a highly complex process — and several charities and philanthropists who covered the drug’s entire cost.

The gel was approved in 2023 in the US, followed by Europe and Japan last year, but remains legally and financially out of reach for Australians, with some – including until now the Burmeisters – considering a move overseas.

Jacob’s dad Nathan Burmeister said the gel has “completely changed” their life, healing an open wound that Jacob has lived with since birth and allowing him to walk to kindergarten using his mobility aid.

“This drug will mean more than likely Jacob won’t live a shortened life,” he said.

“It could be that I get to spend more than 18 years with my son, in fact, it’s more than likely.

“That’s the biggest part of this story.”

RCH chief medical officer Associate Professor Tom Connell said the drug, which is applied weekly, was not a cure but a “life-altering and potentially life-saving” therapy.

EB, a rare genetic condition, affects about one in 20,000 children but there are several subtypes. Jacob has one of the most severe, recessive dystrophic EB.

Patients do not produce a crucial protein that holds the layers of skin together, leading to painful blistering and wounds which can be caused by the lightest touch and do not heal.

Prof Connell said the disease also affects internal organs and patients are constantly at risk of developing deadly complications like sepsis and, if they survive to young adulthood, skin cancer.

“EB is one of the most confronting conditions I have seen in children,” he said.

“For a child who is born today with recessive dystrophic EB, the lifespan is probably going to be in their 20s to 30s.”

Nathan and Lauren Burmeister had never heard of the disease until Jacob was born, but they quickly became experts – thrown into a world of 24/7 nursing care.

Ms Burmeister said Jacob was mostly tube fed and must have his skin wrapped in special dressings to protect it at all times.

“He requires three people to do the dressings every day,” she said.

“It takes four hours.

“It’s obviously really tiring for him but he’s become very patient.”

Mr Burmeister said it had been horrific to watch his child suffer while knowing that a treatment was available in America for his specific type of EB.

“[The drug] became the only thing I thought about,” he said.

“The more wounding Jacob gets, the harder his life is going forward because each wound turns into bad skin.”

He cited Jacob’s foot, which has a bad wound and points down, making it difficult for him to walk, as an example and said they considered selling their assets to buy the drug.

So the family jumped at the chance when the RCH hospital suggested applying via a special pathway for non-approved drugs to get Jacob — the most severe case of his condition in Victoria — the drug.

The Royal Children’s Hospital Foundation covered a significant portion of the cost, and were supported by EB Research Partnership Australia, Cure EB Foundation and several individual philanthropists.

Mr Burmeister said he can recall the “exact moment” they learnt the gel had arrived.

“It was about a week before Christmas, and we remember looking at each other just thinking ‘that’s just about the best Christmas present you can get,” he said.

Prof Connell said the drug “basically delivers the gene the child is missing” and, when applied on an open wound, allows the child’s body to produce the protein needed to heal their skin.

“It’s actually mind-blowing how this works,” he said.

“For the carers that he has 24/7, to see some of the changes they’re describing is phenomenal.

“Anything that’s offering hope to a family, reducing pain and making life more bearable is a real breakthrough.”

Ms Burmeister said they see improvement in his mobility “every week” and hope that, as he continues to get better, they will need less time to do his daily dressings.

“He used to just bum scoot around to get everywhere … whereas now he has the opportunity to get up in a little walker and use some parallel bars to move around and practise his standing,” she said.

When the Herald Sun met Jacob earlier this week, the chatty four-year-old was excited to show off his new skills and, with two bars for support, race his dad.

“I won,” he giggled before turning around to do another lap.

Behind each step he made, was countless supporters who did all they could to help this butterfly boy soar.

“They say it takes a village to raise a child with EB,” Prof Connell said.

“It takes a village to get a treatment like this into Australia.