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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!
“I was having an ultrasound to check for another problem when the radiographer turned the screen around and said, ‘This doesn’t look normal!’ I had to agree with her,” he says.
“I could see my kidney and there seemed to be dots and lumps all over it, and then realised that both my kidneys were affected. I wasn’t too worried but I knew I’d need to get them looked at a bit more closely.”
Fraser had always been fit, healthy and active, and a keen cyclist for many years. He owned and operated a bike shop and expanded the business to include online parts sales in the early years of e-commerce, until the daily grind of a retail business prompted him to move in a different direction.
“Until I know there’s a problem, I try not to worry about things or dwell on the future too much,” he says.
“I saw my GP straight after my ultrasound. He’s older and very experienced, but it was the first case of PKD he had ever seen. He used me as a guinea pig a few times after that with trainee doctors, checking if they could pick up the condition.”
While Fraser was “a little” concerned about the diagnosis his wife was more assertive about the need for some specialist advice. He was very fortunate in having a trusted GP, as well a brother who is a GP and an uncle who is a kidney specialist. “My uncle told me to find the best nephrologist possible. He said it’s a long-term condition, so look for a specialist of about the same age so you can grow old together.”
Soon after his diagnosis Fraser was referred by his GP to the hospital renal clinic and has remained under its care. Initially he was told there were no options for active treatment, other than doing his best to stay healthy and fit. The aims of his care were to establish some baseline measures, including his kidney function and blood pressure, and follow his course over time.
About 18 months later there was an opportunity to participate in a clinical trial of a medication in PKD. “I asked him about the pros and cons of the study, but I knew there was little hope of other treatment,” Fraser says. “There was the potential that the drug would help keep my kidneys working for longer, even though we don’t know the answer yet."
“The clinic already had some history about the path of my kidney function, so I was an ideal candidate. The decision really was a no-brainer for me. The medicine had been approved for the treatment of PKD in some countries, so it wasn’t really experimental, and I felt I had very little to lose."
“The alternative of doing nothing was not palatable for me. If there is anything that will help me get better – or at least not get worse – then I’ll consider it.”
Participating in the trial means that Fraser has regular check-ups with the team and has access to expert care. “Monthly visits could be difficult if I was working 9 to 5 for an employer, so it was fortunate I had the flexibility of working from home,” he says. "The decision really was a no-brainer for me. The medicine had been approved for the treatment of PKD in some countries, so it wasn’t really experimental, and I felt I had very little to lose."
Fraser’s healthy lifestyle, established decades before he learnt he had PKD, has stood him in good stead as he ponders the next steps. “There seems to be a good chance I will die of old age before I need to think about dialysis or transplantation,” he says.
His kidney function is now about 30% of the healthy level for a person his age, and it seems to be declining quite slowly. Apart from the clinical trial for ADPKD, he is not taking any other medication and he does not have high blood pressure. In fact, he has thought about the next steps and is concerned about the possibility of needing dialysis. “It’s very limiting being tied to a machine for three days a week. I lead a pretty active life, so that would have a big impact,” he says.
His aunt and two brothers have both offered to donate a kidney if he ever needs a transplant.
Overall, he feels PKD has had very little impact on his life apart from the effects of taking a medicine for ADPKD. “There is a silver lining: the disease is an added incentive to keep fit,” he says. Fraser appears to be the first member of his family with autosomal dominant PKD so it may be the result of a spontaneous mutation rather than being inherited from one of his parents. His siblings have been tested and are free of the disease.
“My two boys are 12 and 14, so we’re coming up to a time when they might have some scans,” he says. “We have chatted briefly but haven’t talked to them in detail about the possibility that they have PKD. We’ll deal with it at the time – worrying won’t help.”
36 years
Sydney, NSW
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.
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