A little Melbourne fighter dubbed the “butterfly boy” is taking giant strides on the road to recovery after a groundbreaking treatment gave him back the ability to walk.
Just four months ago, Jacob Burmeister couldn’t walk at all. The four-year-old was born with the genetic condition Epidermolysis Bullosa, which makes his skin as fragile as a butterfly’s wings, causing painful blistering and open wounds from the slightest touch.
“He was born without skin on one leg,” his father Nathan Burmeister said. “There’s pain, there’s itch, and just not being comfortable in your own skin.”
“This is one of the most confronting things I’ve dealt with for 18 years as a consultant at this hospital,” Dr Tom Connell from the Royal Children’s Hospital said.
But now a groundbreaking gel has turned little Jacob’s life around.
“It delivers the missing copy of his gene into the skin. And you look for those wounds to heal over the next two to three weeks. And that’s what we’ve seen,” Connell said.
“He will live a longer life. He will walk. You know, he won’t be as disabled,” Burmeister said.
The Royal Children’s Hospital worked tirelessly for 18 months to get special approval to treat Jacob, with his family relying on several charities and philanthropists to cover the drug’s enormous cost.
“It’s in the millions per year. And it’s for life,” Burmeister said.
The gel has already been approved for use in the US, Europe and Japan, but remains out of reach for most Australians. Doctors hope the resounding success of Jacob’s treatment will help expedite TGA approval.
Approximately 1500 people live with Epidermolysis Bullosa in Australia.
“We would love this to be more widely available,” Connell said.
“And that it gets funded by PBAC,” Burmeister said.
