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In What’s It Like To Be… New Zealanders from all walks of life share stories of health & wellbeing. Here, Olivia Worthington explains how gene editing appears to have cured her of a painful condition so rare that many doctors had never heard of it and other patients died when they weren’t treated correctly.
“My hands had swollen up since I was a child. Sometimes it would happen when I’d ride my bike or go for a walk. It was a bit hot, itchy and painful but because it would go away quickly, my parents weren’t overly concerned.
In my late teens, the swellings became much worse. I’d gone on to study after high school and when I was typing up all my assignments, my hands would balloon up and stay large for several hours. The GP thought I might have RSI (repetitive strain injury) or carpal tunnel syndrome. That seemed a bit weird for a teenager, but I did physiotherapy and a bunch of other treatments. None of them worked.
I was eventually x-rayed and diagnosed with cervical rib syndrome, which is when you have extra ribs growing out of the first vertebrae of your neck. The hypothesis was that the extra rib was pushing down on the nerves and veins in my arms, which caused the swelling in my hands. The solution was to remove the ribs through cardiothoracic surgery. The operation was so major they could only do one side at a time.
At that point I dropped out of my studies and ended up working in a supermarket until I finally got called up for the surgery. It was a horrible operation with a really painful recovery, but I was told it went well.
But the surgery didn’t fix the problem at all - my hands continued to swell up. I didn’t know what to do, except hold off on having the second rib removed and just get on with my life.
About a year later I started to get major abdominal stomach attacks. The pain was next level. I’d just want to curl up and die. My boyfriend would come home and find me lying on the floor, doubled over. I could be vomiting for hours and would pass out from the pain. It was just excruciating. A doctor later described the pain from these episodes as being really high on the pain scale – right up there with childbirth.
Of course, I went to the hospital numerous times and had all sorts of tests, but nobody knew what was going on. At one stage I was treated for Crohn’s disease and given high-dose steroids, which give you a beautiful (not) moon face. They put me on all sorts of medications, but nothing worked to stop the stomach attacks. I tried every diet, every treatment, every alternative therapy and saw every specialist, but nothing worked.
When I was 29, I had a really bad hand-swelling episode at work. My GP thought it might be an allergy, so gave me antihistamine and a Phenergan injection. That night, I had one of the worst abdominal attacks ever and had to go to hospital. Luckily, because they thought I was having an allergic reaction, they referred me to an immunologist. A couple of months later, I saw an immunologist registrar who ran a bunch of tests.
My hands were still swelling up, but I never connected the hand swelling with the stomach issues. She called me later and said, “We’ve run the blood tests, and we’re considering a very rare condition. I just want to know, have you ever had any sort of stomach problems?”
She told me I had hereditary angioedema (HAE) - a very rare genetic disease which causes a missing enzyme (C1) in the blood. That can cause swelling anywhere in the body and can be life-threatening if the throat swells up. It turned out the stomach attacks were caused by my intestines swelling massively.
The only treatment for HAE then was an IV infusion of a blood product that contains the missing enzyme. I was terrified to learn that most hospitals didn’t even carry the drug and most doctors don’t even know about the condition. Patients have died because they weren’t treated correctly.
Over the years I had a lot of infusions, which I was eventually able to give to myself. I still had a lot of attacks, especially after the hormone disruptions of pregnancy.
Things took an amazing turn in 2023, when I was offered a clinical trial for gene editing. Using CRISPR-Cas9 technology, they send a lipid into the liver via a minor virus. The DNA change is encoded in that lipid particle and processed by the liver. In my case, the DNA change could permanently edit the gene response causing my HAE.
The process wasn’t straightforward because it was a double-blind clinical trial. The first time I only got the placebo ‘treatment’ and kept having swelling attacks. Eventually I got the real dose in the second arm of the trial.
I was severely fatigued for a couple of weeks after the treatment but since then, I haven’t had a single swelling attack. I have also noticed I have so much more energy. I didn’t realise the full extent of my HAE symptoms as I’d had them all my life.
Having this cutting-edge treatment, which won the Nobel Prize for Chemistry in 2020, has been completely life changing. So far, there have only been 37 HAE patients treated globally but it’s hoped that this technology can help people with rare genetic conditions and lots of other diseases to live better lives.
I feel incredibly lucky because I now live like a normal human being. I’m so happy – new and improved, genetically engineered and alive!”
The Gene Technology Bill 2024, which is to enable safe use of gene technology and regulated other organisms, is currently before the Health Committee, which is considering submissions. CRISPR-Cas9 is gene-editing technology that uses “molecular scissors” (Cas9 enzyme) guided by a small RNA molecule to add, remove or alter sections of a DNA sequence.
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