Getting a whole new body may sound like something out of a sci-fi movie, but one New Zealander says a new genetic treatment felt just like that.
Hereditary angioedema is a rare immune deficiency that causes indiscriminate, disabling, and potentially fatal swelling.
It is estimated that one in 50,000 people lives with the condition.
Judy Knox lived with hereditary angioedema for decades.
Without medication, the attacks were debilitating.
“I would get swelling in the abdomen and it gives you a lot of pain and you also get a lot of nausea and vomiting. It can last quite a long time and go on for as long as six to eight hours,” Knox said.
Children have a 50 percent chance of inheriting the gene if their parent has it.
Rose was diagnosed when she was five years old and had weekly seizures.
“As a kid I went in and out of the hospital for treatment… I missed quite a few things that any normal kid has to do and it was always in the back of my mind. I missed a lot of school growing up too,” she said.
The swelling was often caused by injury or illness, Rose said.
University of Auckland immunologist Dr Hilary Longhurst said the condition is difficult to diagnose and very dangerous if left untreated.
“When people with this condition go to their doctor, they get treated for allergies, but allergy treatments don’t work. So the families will learn that actually there’s no point in going to the emergency room, there’s no point in going to the emergency room to go.” doctor,” said Longhurst.
“If they don’t have the correct diagnosis, they will suffer in silence, often for years.”
But Judy Knox and Rose are two of 10 people with hereditary angioedema who have had no symptoms for months.
The American company Intellia Therapeutics chose New Zealand as the first place to try a breakthrough gene editing technology in late 2021 and 2022.
Longhurst, the lead researcher, said the therapy was delivered through a tiny globule of fat.
“It’s an injection or an IV that gives a substance that goes to the liver and releases a little bit of genetic material that cuts the gene that’s causing the problem,” she said.
“The gene heals naturally and the treatment material is naturally cleared by the body in a few days.”
Each transfusion was given at the New Zealand Clinical Research facility in Auckland, with each patient under intensive monitoring.
Rose said the eight months since her IV had been incredible.
“I’ve been able to physically push my body more than ever before and those nights when you don’t get much sleep are no longer triggers [for an attack],” she said.
“It’s like living with a new body again, because… the options are now limitless.”
Knox felt ecstatic that she was no longer dependent on medication – which she was off for the first time in 35 years.
“All the drugs we have are not funded. It costs a huge amount. I mean, just the injections, just the little ones that I still have with me in case of a flare-up — they cost $1,500 to $2,000 each,” said she. .
“This gene-editing treatment removes all of that. Plus, it makes your life safe.”
Knox’s son also had the gene and lived remotely.
Texting him was the first thing she did after realizing the treatment was working.
“It’s such a relief… I said to him ‘hey listen this is great – raise your hand and do it’.”
It was something Longhurst was committed to.
“My ambition is that people with hereditary angioedema can live normal lives without symptoms, and it’s almost within reach,” Longhurst said.
Rose was overcome with emotion as she spoke about the difference the treatment made in her life, and she had a message for others.
“For anyone living with a rare disease, new, promising drugs are constantly being developed, so … don’t give up. Don’t give up hope. Things are always being developed that can change lives,” she said.
The 10 patients undergoing the treatment will be monitored monthly and if the results continue to be successful, the technology could also be used to treat other conditions.