Greg Johnson, pictured with his wife Kath, was diagnosed with Von Hippel-Lindau disease as a teenager.
The first medicine has been approved for Kiwis living with a rare disease that causes multiple tumours throughout the body – requiring repeated surgeries to remove them.
Von Hippel-Lindau (VHL) disease is an inherited genetic disorder causing cancerous and non-cancerous tumours to form in several different places in the body, including the eyes, brain, spine and kidneys.
People with VHL have a 50% chance of passing it on to their children.
Now, a drug called Welireg (belzutifan), taken as an oral tablet, has been approved by Medsafe to treat adults with VHL who have associated types of kidney or pancreatic cancer, brain or spinal cord tumours which don’t immediately require surgery.
If Greg Johnson had access to the medication earlier, it could have been “life-changing”.
Johnson, 51, was diagnosed with VHL as a teenager. By the time he was 33, he had gone completely blind.
His family became aware of the genetic link after his grandmother’s death and autopsy in 1982.
His mother and her six siblings underwent genetic testing, and five were shown to have the VHL gene.
“Their DNA was sent over to the UK for testing, and then they were told not to worry about any of us kids that were alive because it didn’t affect children, which we’ve found out now to be wrong,” Johnson says.
VHL affects one in 36,000 people globally, and is thought to affect fewer than 100 Kiwis, though the exact number isn’t known.
In the early 1990s, Johnson began having vision problems, caused by tumours developing in his eyes.
“That’s generally how most people get diagnosed – because the eyes are the easiest part to look at, rather than scanning your brain or your spine.”
But Johnson went completely blind in 2007.
“I lost one eye pretty much straight away, because the tumours were too big. [Doctors] tried to save it and then it didn’t work, so I had to have that removed because of pain issues.”
He says he was monitored frequently, and when tumours were found, they were usually lasered, to “try and blow them up” or cut off the blood supply.
For Johnson, as for most people with VHL, the disease progressed from his eyes to his kidneys, brain and spine.
Life after diagnosis with VHL is like being “stuck in a loop”, he says – with regular specialist appointments, MRI scans, and monitoring to check the growth of recurring tumours throughout the body.
“No matter how many things they blow up and chop out, they just keep coming back.
“You’re dealing with loss and deficits, like going blind. I dealt with that reasonably well, but then I had spinal tumours and lost the function in both my arms, one after each surgery.
“That combined with blindness has just left a life of frustration, and frustration leads to anger, anger leads to depression.”
While he hasn’t been diagnosed with depression, his mental health has been through “ups and downs” as a result.
Exercise helps, and also aids his recovery after surgery, Johnson says. With the help of a guide, he’s completed the Auckland Half Marathon and the New York Marathon.
He and his wife Kath, who works as a nurse practitioner, divide their time between Auckland and the Coromandel. The couple took over running the VHL New Zealand support group from his parents in 2019.
“Out of the blue, we might get a phone call [from someone], and then we’re offering them support based on our lived experience. Kath’s got pretty good experience of managing it, but also understanding the health system, which is pretty complex.”
This has shown him the impact of the disease on others living with it. Some are affected at a younger age than Johnson was, and others later in life.
“We met a young woman in Auckland a few months back, and she’d had multiple brain surgeries and she’s only in her late 20s.
“Often there’s multiple family members with it in the same family.”
Until now, the treatment options for VHL in New Zealand have been limited to surgeries, laser or injection therapies, with interventional radiology available in Auckland to treat kidney problems.
Johnson himself likely won’t benefit from new drug Welireg.
“I’m probably too far gone for it, to be honest.
“We’re doing [this] for the next generation of people, so they don’t have to go through the same amount of surgeries and the scans and appointments that we’ve gone through.
“It would be completely life-changing.”
For those who are eligible, it would mean needing less surveillance, fewer scans and specialist appointments, and not needing to take as much time off work.
“The big benefit is for the patient, but the other benefit is for the health system if we’re not in hospital so often, it’s a no-brainer,” Johnson says.
It’s not known what the drug will cost patients, but he estimates it won’t compare to what his own treatment has cost the health system to date.
Welireg is funded for VHL patients elsewhere around the world, including in Australia. Pharmac is currently seeking clinical advice on whether to fund it here.
“Medical refugees are a real thing and there are people that have moved from New Zealand to Australia to seek treatment,” Johnson says.
“[Australia] has a fast-track process, that they essentially put this drug through their system in around 12 months. That’s something New Zealand needs to look at, I think, for a drug that’s proven now in multiple countries to work well.”
Bethany Reitsma is a lifestyle writer who has been with the NZ Herald since 2019. She specialises in all things health and wellbeing and is passionate about telling Kiwis’ real-life stories.