Hi.
Welcome to my blog. I document my adventures in travel, style, and food. Hope you have a nice stay!
Welcome to my blog. I document my adventures in travel, style, and food. Hope you have a nice stay!
Mitch, aged 36, has autosomal dominant polycystic disease (ADPKD) but it’s had no effect on his career. Initially a production designer working on kitchens and exhibitions, he then moved to the staging of major rock concerts and music festivals. He now has a full-time role managing the venues for Opera Australia’s annual cycle of outdoor performances in Sydney and Queensland’s Gold Coast. “It’s a challenge, but a good one,” he says.
There is no obvious history of ADPKD, an inherited disease, in Mitch’s family so his condition probably resulted from a spontaneous mutation. His parents, brother and sister are free of the disease. When Mitch was 16 he had pneumonia and some routine X-rays suggested his kidneys were unusually large. A follow-up ultrasound confirmed they contained cysts typical of the disease.
“I didn’t think much about it at all,” Mitch says. “A 16-year old teenager doesn’t think much about the future, and I was told my doctors would just keep an eye on it.”
His GP referred Mitch to a renal physician who monitored his progress once a year during his 20s. “There were never any major concerns. When I was about 24 I started one tablet a day to treat my high blood pressure, but it’s well controlled."
“My kidneys look like a sack full of marbles. Occasionally during a check there will be a trainee doctor who wants to have a look at the scans, and I see the surprise on their faces. My kidneys are enlarged but I’m quite tall – six feet five – so that’s not causing any problem. I sometimes have back pain, but that could be because of my height rather than from my kidneys. I don’t have any other pain or other symptoms, so PKD has had very little effect on my health.”
The biggest impact of PKD has been on the decisions Mitch and his wife have made about having children. Genetic tests identified the mutated gene in his DNA and a genetic counsellor provided expert information about the options.
“They did some DNA research into our family, including my parents and siblings, and worked out where the mutation was sitting. We decided that, rather than take the 50/50 chance of passing it on, we would go through IVF so they could scan our embryos and choose one without the ‘broken’ gene,” he says.
“We did talk about it a lot. IVF, apart from anything else, is a tough process for women, it’s very ‘medical’, and it’s expensive. But we decided that, for us, it made sense. We’re very lucky to live in a country as wealthy as Australia where we can make these types of choices. And if you have the choice, why would you not?”
Their daughter, now two and a half, is thriving, and they are thinking of having another child.
Mitch still feels a little like the nonchalant 16 year old who discovered he had a kidney disease. “PKD doesn’t change my life, and I’m healthy. I had an occasional freak-out when I was younger, but I know that, for now, it’s not changing my standard of living,” he says.
His kidney function is currently about 40% of the normal level. “It’s not in my personality to follow it obsessively. If it gets too low I know someone will tell me, but if I track it myself, it’s just something else I have to worry about.”
He relies on his medical team to keep him up to date about his condition and any potential developments in treatment. “If you rely on something like Google, there’s probably a lot more misinformation than good information,” he says. “I have always trusted my GP and my kidney specialist, and I’ve never felt the need to look things up or double-check what they are telling me. You need to find doctors who strike the right balance between being overly concerned on one hand or, on the other hand, not concerned enough.”
Mitch says his apparently relaxed approach to PKD reflects the way he deals with his life, but he does take the disease seriously. “There are no decisions to make at the moment and it’s hard to be proactive. If the situation changes then we will deal with the new information at the time,” he says.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic, progressive disease characterised by the formation of cysts which increase kidney size and can ultimately lead to kidney failure. Approximately 10,000 people are living with ADPKD in Australia.*
*Prevalence of ADPKD in Australia is based on epidemiological data from the European Union sources (Wiley CJ et al. Nephrol Dial Transplant 2017;32:1356-1363).
If you would like a copy of the booklet 'Rare Humans' ask your nephrologist.
Otsuka Australia takes no responsibility for the information contained on the site which you will be accessing. The information you are about to access may not comply with the Australian regulatory environment.
