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A new lease on life for Kym

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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.

Kym and her lovely family

But one morning, something wasn’t right.

Like many mums, she was tough, and tried to just “get through it”. But this was too much to push through.

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.

Around 6% of Australians are living with rare diseases.

What Kym didn’t know was that a rare genetic disease, Porphyria, was now waking within her body.

Kym’s Sister, their father and Kym.

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.

In fact, Kym’s first Porphyria attack was so acute the diagnosing Pathologist rang her directly. He’d never seen this before. He asked her, “most people with these levels would be in hospital, are you in hospital?”

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.

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 this severe. 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, is the standard treatment for Porphyria and 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.”

Kym describes the experience, “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 bloodstream. I’d feel better initially – but within days all the symptoms would soon start again and then it was time for my next infusion.”

For Kym, a global trial at Wesley Medical Research of an innovative therapy is providing hope. It uses one of the newest, most promising and rapidly advancing therapies available today; RNAi therapy – or ‘gene silencing’.

Today, Kym is halfway through her trial with positive results.

“I feel so lucky….I haven’t had an acute flare-up since June last year. Any episodes are nowhere near as severe. Before I’d need hospital admission. Now I can work through it.

“Now I can go out. I can meet people, go to functions, I can go to work, I can go to all my kids sporting games. I don’t have to stay at home and be tired.

“Emotionally I don’t know how I’d see the future without this trial, or cope with what the future would be like.

“The whole experience has been profound for me. I thought I’d lost the joy in my life. But I’ve certainly got that back through the clinical trial.

“I feel so grateful and so fortunate that this is available. To have my life back”, finished Kym.

More to explore...

Advocates Event: Making a Big Impact in Rare Disease Research

Did you know that rare diseases are actually common? There are about 8000 rare diseases affecting an estimated 1.5 million Australians.

At this special Advocates Event, Associate Professor Robert Henderson and Professor David Coman will detail some research they are working on to give people with rare diseases better treatment options and offer a better quality of life.

Read More »

Wesley Medical Research

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