Kym’s life-changing trial
“I was shaking, having palpitations, nausea, muscle cramps, severe abdominal pain. I became really, really frightened.
By that stage I was in tears and talking gibberish.
That’s part of it, psychosis.”
Kym, 46, who has the rare Porphyria gene
In 2017 Kym’s life was full and happy. She was the Nurse Manager in charge of a Cardiac and
Intensive Care unit, mum to 3 active kids and had a busy life with her husband and friends. But one morning, something wasn’t right. More than not right… something was horribly wrong. Like many mums, she was tough, and tried to just “get through it”. But this was too much to push through.
“It was 8am Monday, I’d put the kids on the bus for school and was trying to get ready for work. I just had to go back to bed. I felt horrendous. I couldn’t function. Fatigue, cramping, muscles twitching, my limbs were heavy and weak. And I was talking gibberish about things that I didn’t realise were worrying me.”
At 43 years old Kym was a high achiever who never sat still. She was in peak physical fitness and about to embark on a NZ trekking holiday with her sister. What Kym didn’t know was that a rare genetic disease, Porphyria, was now waking within her body. Around 6% of Australians are living with rare diseases.
You see, instead of producing healthy proteins for her body, Kym’s genetic condition Acute Intermittent Porphyria means her genes have a defect. It’s this defect that causes her body to produce toxins – and these toxins rapidly attack her nerves and cells. Causing severe abdominal pain, nausea, cramping, muscle twitching, extreme fatigue and psychosis. Porphyria is a rare genetic disease and it exists within Kym’s family. Her father, sister and grandmother all suffer from it. Her Dad’s cousin died with Porphyria complications. Attacks can have many different triggers and the impact, particularly in Kym’s case, is debilitating.
“I had 8 admissions for acute attacks within the first 9 months. I’d only ever been in hospital before to have my children.”
“My only option to control the attacks was to have an IV heme infusion every 7 days through a PICC line – a permanent needle in my arm for direct access to my blood stream. I’d feel better initially – but within days all the symptoms would soon start again and then it was time for my next infusion. bIt was not a great drug, it causes major clots in vessels. I’ve had 15cm blood vessel in both arms blocked.”
A chronic illness changes everything and Porphyria is life-threatening. She’d spent the last 5 months on a rollercoaster of infusions. She’d had to give up her beloved, challenging nursing career in tears. She was leading an isolated life where she couldn’t go out, could not meet friends or even take her children to sports games. Kym was lonely and trapped at home with constant fatigue.
For Kym, a global trial of an innovative therapy provided possible hope. It would be using one of the newest, most promising and rapidly advancing therapies available today; RNAi therapy – or ‘gene silencing’. Professor David Coman, Principal Investigator at Wesley Medical Research of the RNAi therapy trial that Kym is participating in describes her situation.
Someone living in this type of pain is severely impacted. This disease can be life threatening.. An acute attack can cause paralysis and body chemistry alterations, due to large sodium changes. Kym’s previous treatment, Heme infusion therapy, the standard treatment for Porphyria, helps to absorb the toxins (like a sponge)… But this therapy is caustic. It will destroy veins in your body. It’s a rough treatment with a lot of side effects. It might mean you have to swap one problem for another – such as liver transplant.
Without a doubt, if this trial works it will open ‘life-doors’ for patients.