'Nothing but a DNA test would have figured this out'
Tess* underwent genomic testing at Austin Health to inform a potential kidney transplant. This is her story, in her own words.
I often look back at the last few years and wonder: What the hell happened to me?
I’d had kidney stones for a long time, so I scheduled once-a-year checkups and blood tests with my urologist in regional Victoria. A little over three years ago, he called me, saying: “You should see a nephrologist straight away.” I could hear the panic in his voice.
The average person’s kidney glomerular filtration rate is about 100 – maybe down to 50 when you’re older. Mine was 12, which was considered ‘end stage’.
The nephrologist put me on dialysis. I asked him, why am I on this path? He said: “Your kidney’s not working. It’s just you.”
That wasn’t good enough. I have two adult sons. If this was a ‘just me’ problem, couldn’t it be just them, too?
I said, I want a DNA test. He said no, it wasn’t at all necessary. I kept insisting. Then he said it would cost too much: I said we’d pay what needed to be paid.
I needed to know, for myself and my sons.
Eventually I was sent to The Austin for my kidney transplant. There I met the A/Prof John Whitlam, the doctor who turned out to be my saving grace. I said to him, is it too much to ask for my DNA to be tested? And he said, “Of course you can!” And the hospital covered the cost of the test - it was such a relief.
I got the test results over Zoom, because we were in the middle of COVID lockdown. “I’m sorry to say, you need a liver and kidney transplant.” Honestly, I didn’t hear anything else after that – it was lucky my husband was there to listen!
It turned out the DNA test found a one-in-a-million illness: Primary Hyperoxaluria type 1. The genetic problem was in my liver, not my kidneys!
Had I gotten a kidney transplant before this was discovered, the new kidney would have died because my liver would have been pumping it with excess oxalates. I’d have had to keep getting new kidney transplants – which would have been harder as I got older – and live my much-shorter life on dialysis, without ever knowing why.
Thank you, DNA test, because nothing else would have figured that out!
If you find out what the problem is, you don’t have to have repeat hospital visits and expensive procedures. You and the health system save money by not paying for what doesn’t work!
I had just one operation in December 2022, to get a new kidney and liver. The results are good so far, and I’m about to go back to work.
My sons got a test, too. Both are carriers of the gene mutation that caused my illness, but it won’t affect them. And as both their wives don’t have the gene mutation, my grandchildren will be fine.
It really is important that doctors don’t dismiss patients when they ask for a DNA test. It’s not the right option for everyone, but at least talk it through.
After all, I wouldn’t be here today if I hadn’t insisted on it.
*Tess is a pseudonym used to protect privacy.