MELISSA, 47 years old Mont Albert VIC

Melissa, now 47, was told she shouldn’t have children because she had autosomal dominant polycystic kidney disease (ADPKD). “Bad luck,” she told her doctor, an internationally-renowned kidney specialist, “I’m having three.” And she did.

Melissa is well and leads a busy life focussed on those three children, now aged 17, 14 and 10. She returned to full-time work after her husband had a major health scare seven years ago, she has just transitioned her parents into an aged care facility, and her office has recently moved to a new site, so there’s little time left to worry about her ADPKD.

With a background in marketing, Melissa works as an events organiser with a church organisation. She plans about 70 events a year, ranging from day-long training session for 20 people to major weekend meetings attended by more than 1,000. “We have a lovely group of people and a very positive, supportive team culture in the office,” she says. “It’s a nice place to be.”

"I’ve been open with them, so it won’t be a surprise if I eventually become unwell. At the moment, though, I’m a picture of health and my children know that their grandmother with ADPKD is still with us."

PKD in the family

There is a 50/50 chance that a child of someone with ADPKD will also have this inherited condition. Melissa’s grandfather, who she never knew, had the disease and died at the age of 52 because of its complications.  Her mother, now in her mid-70s, also has ADPKD. She received a transplant from her husband when she was aged 52. Melissa was a young adult at the time and recalls the stress of knowing that both her parents were on operating tables at the same time, one donating a kidney, the other receiving it.

The transplant went well, lasting about 20 years until Melissa’s mother needed a second procedure, this time receiving a kidney donated by her mother’s sister. 

“Mum’s been going well and has managed to live independently until now,” Melissa says. “She’s not strong health-wise – she’s weak and frail – but her kidney is fine.”

Melissa’s sister, four years older, has ADPKD too. “She is struggling. She had a kidney transplant from her husband but it was rejected and a second transplant two years ago. The second one is now showing signs of rejection and she’s having treatment trying to control it."

Melissa’s diagnosis

Melissa found out she had ADPKD at the age of about 14. Her family had agreed to participate in a study of ADPKD genetics so she had some blood tests, and then had an ultrasound which revealed the typical cysts. 

As a child she didn’t know that her grandfather had the condition. Although the family knew about her mother having PKD, it was not an obvious feature of the family’s life. “PKD was not a ‘presence’ in my family,” Melissa says. “When I found out I had it, I was never really concerned. Even when I started taking blood pressure medication and regularly seeing a nephrologist, I didn’t give it any weight because at that point in time I hadn’t seen any detrimental effects. Mum didn’t seem to be sick, so I didn’t think it would make any difference to me.” 

Having children

As Melissa learnt more about her family’s history she realised that her mother’s journey had been smoother than her grandfather’s. She hoped that she, and her children if they developed the disease, would benefit from further advances in treatment over the years. 

“The disease didn’t come into any decision-making process about having children. I knew PKD was inherited, but I didn’t think it would be a major issue, because I still hadn’t seen any consequences for the people around me,” she says. 

Melissa briefly explored genetic testing for her children to see if they carried the ADPKD gene, but discovered the out-of-pocket cost would amount to many thousands of dollars. “I’ve discussed it with my nephrologist, and we have decided to wait. When we think it’s right for each child, we will do an ultrasound. He doesn’t think it’s necessary to know at this stage as there is still little we can do, and there are consequences like insurance coverage once you know you have a pre-existing disease."

“All my children know about the family history,” she says. “I’ve been open with them, so it won’t be a surprise if I eventually become unwell. At the moment, though, I’m a picture of health and my children know that their grandmother with ADPKD is still with us.”

Melissa has taken medication for high blood pressure associated with ADPKD since she was about 18 and it is well-controlled. She has occasional urinary tract infections and back pain also caused by the condition, and has had several episodes of a kidney cyst bursting or bleeding. “It’s like having the flu for a couple of days when that happens, but I’ve been very lucky and haven’t had any major problems at all,” she says. 

Melissa says her medical team are “amazing” and have done everything possible to care for her. The family’s GP, who still looks after her parents, has a good understanding of ADPKD and is an important member of the team. 

"To someone just diagnosed with ADPKD, I’d say, ‘Don’t worry too much’. My story has been fairly easy until now, so don’t assume the worst."

The future

Melissa has watched as her mother and sister have had kidney transplants, and knows she may need one in the future. Her husband has heart disease and is not a candidate for donation. The team also made it clear they would not use anyone who is the parent of dependent children, which has ruled out some friends who had initially considered donation. “So, I don’t really have a lot of options,” she says. 

Her kidney function is not yet at the level where dialysis or transplantation are essential. When the time comes, if she is unable to find a live donor she will start dialysis and be placed on a transplant waiting list, perhaps for two years before she can have the procedure. 

“I try not to worry, and I regard dialysis and transplantation as inevitable,” she says. “I have faith in God. I know that just because I have faith, doesn’t mean bad things can’t happen, but I feel a sense of comfort. I worry more about the children than about myself, but as every year passes they are older and better able to cope.”

Melissa has seen the range of possible outcomes in her family, from the early death of her grandfather to successful transplants for her mother, and greater challenges with transplants in her sister. 

“I relate my story more to my mum. Looking down the barrel of the future, I look at her and think, that’s what I’m going to be like. But I’m a generation younger, my medical care has been better, and I’m in better health than she was at my age, so I think I will be healthier at the time of a transplant. 'To someone just diagnosed with ADPKD, I’d say, ‘Don’t worry too much’. My story has been fairly easy until now, so don’t assume the worst.”

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About ADPKD

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).

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