Every two weeks, Aaron and Taylor Adams go to the Royal Melbourne Hospital to have a needle injected into their spines.
A lumbar puncture might not seem like much to look forward to, but it’s part of a clinical trial the Kangaroo Flat family desperately hopes will improve the lives of people with a rare genetic disease.
The siblings are living with Niemann-Pick Type C Disease, which causes irreversible damage to vital organs because of cholesterol accumulation.
Aaron, 19, was diagnosed in late 2013. Taylor, 22, was diagnosed in May 2014.
The disease is presently incurable and patients rarely survive longer than 10 years from diagnosis.
When their mother, Kellie Adams, and Australian NPC Disease Foundation president Mandy Whitechurch heard about a drug intended to slow the disease’s progression, they were determined to bring the trial to Australia.
So they applied for passports and flew to an international NPC disease conference in Germany.
“Vtesse wasn’t initially going to bring it Down Under, but they decided after talking to us and hearing our stories they would like to help us,” Mandy said.
Aaron and Taylor were the first trial participants in Australia. They received their first infusion on December 21.
Mandy remains hopeful the drug might be approved for compassionate use by her sons, Timothy and Matthew, who were diagnosed with the disease almost 10 years ago.
“I just hope it’s going to be in time for them,” she said.
Her children, in their late 20s, exceeded the age criteria for trial participants.
“I’m still advocating for it because I can see the good in it,” Mandy said.
“If it was my kids in the age criteria, I’d be jumping at it.”
Kellie’s two children and two others are involved in the trial in Australia. One child and their family have come from New Zealand for the opportunity to participate.
But Mandy and Kellie are fearful there might be others missing out.
They helped find participants for the trial’s extension to Australia.
“This is our only hope,” Kellie said of the drug.
“As a parent, when your child has a condition there are no answers for, you’re going to do everything you can for that child.
“I didn’t have any second guesses in taking part in the trial.”