Audrey Ashman’s bone treatment for rare genetic disease known as XLH denied government subsidy

Audrey Ashman loves to ballet dance and plays with her brothers — but she needs a special bone treatment that’s been rejected for a government subsidy.

Exclusive: Little Audrey Ashman loves to ballet dance, dresses up as Emma Wiggle and plays rough and tumble with her older brothers.

But she is far from your everyday two-year-old.

The youngster suffers from a rare genetic disease, called X-linked hypophosphatemia (XLH), which left her father’s bones so soft he required rounds and rounds of horrifying surgery.

A $200,000-a-year miracle drug has so far spared Audrey the agonising bone straightening treatment, but her family this year learned it had been rejected for an Australian government subsidy.

“One of the biggest concerns for me in originally not wanting to have children at all was that I didn’t want anybody else to have to go through what I had been through,” her father Grant Ashman said.

When he was aged six and seven, and again at age 15, doctors broke Mr Ashman’s legs in multiple places before fixing them with a steel rod. Screws were then driven through his flesh and into his bones — and the device was tightened daily.

“I could feel my bones moving when we would turn the device to straighten it up, also I effectively had upwards of a dozen open wounds on my leg for a period of six months,” the 33-year-old IT manager explained.

“I was put in a plaster cast for another three months before then having to go through some pretty traumatic and rigorous physical therapy effectively to learn to walk again.”

Grant Ashman as a child pictured post surgery. He has a rare condition that effects his bones called XLH – X-Linked Hypophophatemia. Picture: Supplied.

XLH is a condition that sees the body excrete the phosphate it needs to form bones.

It results in bones that are so soft they bend, causes bowed legs short stature and severe bone and dental pain.

The condition spans three generations of Mr Ashman’s family. His grandmother had it, his mother and her brother also inherited it, he got it from his mother and then passed it on to his daughter.

When women carry the genetic fault there is a 50/50 chance each of their children will have it. When the male carries the fault there is a 100 per cent chance their daughters will have the condition but their sons will not be affected.

Grant Ashman’s bones were so soft his legs were severely bowed and he required drastic bone straightening surgery. Picture: Supplied.

XLH Australia Vice President Naomi Ford said around one in 20,000 people were born with the condition that “impacts every single bone in the body”.

“So arms, legs, fingers, toes, all of those things. You can experience hearing loss as well because you’ve got all of those little tiny bones in your ears,” she said.

Her son has also undergone an osteotomy, the same painful bone straightening surgery as Mr Ashman.

Mr Ashman was thrilled when his daughter was given compassionate access to a breakthrough new $200,000-a-year therapy made by pharmaceutical company Kyowa Kirin.

“Burosumab is a monoclonal antibody therapy, which specifically targets the molecule that’s causing the phosphate leak,” Dr Peter Simm, a Paediatric Endocrinologist at Royal Children’s Hospital in Melbourne, said.

“It dramatically improves the rickets (soft bones) to the point where it can look like they have healed, both in the blood tests and on X-ray.

“I’ve seen incredible improvements on X-ray and on blood tests, and most importantly, on what these kids have been able to do.”

The medicine is subsidised in the US, UK, Japan and some European countries but in March an independent government advisory committee — the Pharmaceutical Benefits Advisory Committee (PBAC) — rejected a submission to have it subsidised here.

The Ashram’s and XLH Australia are hopeful the pharmaceutical company will make another attempt at gaining a subsidy.

Two-year-old Audrey Ashman with dad Grant has a rare bone disease which means her bones are so soft they bend. Picture: Rob Leeson.

Mr Ashman said “there’s Buckley’s chance” his family could ever afford to pay for the treatment their toddler needs.

“Absolutely no chance to the point that there are other families in the community that have seriously considered moving internationally,” he said.

“The reality is that this is life changing.

“It’s somewhat ironic, I think, to think that Australia has such an advanced and progressive healthcare system, and has Medicare and yet a medication of this importance can’t get through that system.”

Originally published as Audrey Ashman’s bone treatment for rare genetic disease known as XLH denied government subsidy