JODIE, 33 years old Melton VIC

When Jodie recently had a small skin cancer removed from her face, covered by a surgical dressing, people were concerned, sympathetic and offered to help. It was a different story when, 12 years ago, she told her friends she had autosomal dominant polycystic kidney disease (ADPKD). Some said she was simply making it up because she looked healthy, the condition was ‘invisible’, and kidney disease was ‘for old people’.

“You have to put up with a lot of judgment and misunderstanding, because no-one can see your kidneys,” she says.

Jodie is now 33 and telling her story in a tranquil park in a small town just outside Melbourne. She explains that, as a 21-year-old, she had a new diagnosis of ADPKD but very little information to guide her. She was rejected for a time by her friends who didn’t accept that she was unwell. Years later, her marriage suffered when difficult decisions about having children had to be addressed.

Her family, too, took time to come to terms with the diagnosis. Because ADPKD is inherited, there’s usually a parent, grandparent, aunt or uncle in the family who has been diagnosed. In an unusual twist, Jodie’s father was found to have the condition about seven years after she had been diagnosed, when he had some investigations for the high blood pressure which had been present all his adult life.

“He always said I’d inherited his high blood pressure, but he was shocked to find out he also had ADPKD and I’d inherited that as well,” Jodie says. (High blood pressure is a common result of ADPKD). “When he put two and two together he had a devastated look on his face, realising that he had passed it on, and it was a very uncomfortable topic for a long time.”

In recent years she and her father have strengthened their relationship based on the challenges they have in common, and are both dealing with the fact that their kidney function is slowly declining.

“Dad’s kidneys and mine are working at about the same level. That’s a bit of a worry for me considering that I’m so much younger,” Jodie says.

Although ADPKD is rare, Jodie discovered a former co-worker had the condition. “It had been diagnosed in her family for generations, so she knew everything about it,” she says. “It was very different for me, because I was the first person diagnosed in my family and I started out knowing nothing.”

Pathway to diagnosis and care

Some practical sessions at university first alerted Jodie to her medical problems. She volunteered to be the ‘guinea pig’ as students explored ECGs and blood pressure.

At the age of 18 her blood pressure was 173/120 mmHg compared to a normal level of 120/80 mmHg or less. She started treatment for her high blood pressure immediately after being sent to the campus doctors, but discovering ADPKD took another three years.

Jodie had persistent back pain after a fall at work and her GP ordered an ultrasound a few weeks later to check for any damage. “The radiographer doing the scan noticed something and said, ‘Can I have your consent to ultrasound your kidneys, even though it’s not part of the request?’ And then she said, ‘You need to wait right here until I’ve processed the scans and then take them straight to your GP’.”

Jodie’s GP instantly recognised the distinctive image of her polycystic kidneys: they were about 40% larger than normal and contained multiple clear cysts, up to 5 cm in diameter.

Although being told she had ADPKD, Jodie received very little information about the implications or what to do next. Referred to nephrology outpatients services, she felt she “bounced around” the health service, spent hours in clinic waiting rooms, saw different doctors at every visit, and still learnt very little about her situation.

Some of the information was very negative. Jodie was told, ‘You’re quite young to have advanced disease. We think you’ve got until your 30s until you’ll be on dialysis, so anything you’ve got to do, do it right now’. “They focussed on my blood pressure and ordered some tests, but no-one had explained what it meant. I thought, they don’t seem to care so much or be worried, so why should I take this seriously?”

"My family and friends were worried about something bad happening in the trial but I said, what if something good happens?"

Access to expert care

As a young woman building her life, Jodie decided that ADPKD, doctors and hospital clinics were not for her. She ignored her condition for six or seven years until a GP was alarmed by the results of some routine blood tests showing that her kidney function had dropped to about half the healthy level, and her blood pressure was high.

“I asked, is that bad? And he said, ‘Well, you’re 30 years old, so it’s not great’. I had to stop pretending I didn’t have it and decided to take control,” Jodie says. “I arranged to be seen by the nephrology clinic at the hospital. I knew about its good reputation and I also knew about clinical trials.”

On her first assessment in the clinic she was asked to consider entering a clinical trial evaluating a new treatment for PKD. “My family and friends were worried about something bad happening in the trial but I said, what if something good happens? I wasn’t doing it for me. I know where I’m headed, but what about people in the future? Regardless whether the results are positive or negative, we need the data.”

Participating in a clinical trial means that Jodie has been reviewed every month by the clinic, now for a total of about three years, and she also talks regularly to the trial coordinator by phone to discuss any difficulties. “Even without being in the trial I know I still would have had great care,” she says.

A healthy life

Jodie’s life and medical care is complicated by several other medical conditions including lifelong severe eczema (which is now well-treated and under control), food intolerances and hypermobility of her joints. She has had difficulty with her heart rhythm, as her heart rate is often over 100 beats a minute but at times is too slow.

Her reduced kidney function limits the range of medications that she can take, so her doctors have been working together to provide the best possible care.

Jodie walks around her home town every day, wears a FitBit to monitor her heart rate, and will shortly get a new device which will also record her blood pressure. Her enlarged kidneys sometimes cause a little abdominal pain, but it is not a major problem. She’s had to limit her enthusiasm for kickboxing and paint ball, following her doctors’ concern that they could be dangerous for her vulnerable kidneys. Having grown up in a “family of foodies” Jodie loves cooking but her diet is limited by several food intolerances, except for a planned monthly indulgence. She follows advice from a clinic dietitian to limit her salt and protein intake.

Jodie takes two medications to control her blood pressure and heart rate, and a statin to lower her cholesterol, together reducing the risk of cardiovascular disease that accompanies ADPKD. Fish oil and glucosamine help control joint pain caused by hypermobility syndrome. She also takes three tablets of the trial medication in the morning and one in the afternoon.

A daily tablet box which she fills each morning helps ensure she takes her daily quota of medicines. Alarms on her phone provide reminders, but Jodie has found they are easy to dismiss without actually taking the tablets. She finds her daily pill box valuable, because it provides a very obvious visual reminder about whether or not she has taken her prescribed doses.

"You have to put up with a lot of judgment and misunderstanding, because no-one can see your kidneys."

Impact on work

Jodie worked full-time until about six months ago, having developed a successful management career in a major retail organisation. A very long commute, tiredness and her accumulating health problems meant she had to take a break, and she’s still considering her options.

Although earning a living is an increasing challenge, Jodie is pessimistic about the prospect of support from Centrelink. “When a 33 year old is able to walk into their office, it’s hard to convince them of the real disability of an invisible disease,” she says. “If I had kidney cancer rather than ADPKD, people would be much more likely to understand. Everyone’s heard about cancer, and knows how serious it can be.”

Looking forward

As her kidney function continues to slowly decline, Jodie knows that dialysis and transplantation may become a reality for her. “We don’t actually talk about it at the clinic, but for me I think it’s inevitable,” she says. “People in the future might have the option of an implantable artificial kidney, but we’re not there yet.”

In contrast to her earlier experiences, Jodie now has a strong and supportive network of friends and her family members have come to terms with the condition. She is full of praise for her healthcare team. “I can’t fault them. I know I can have an honest discussion, and they are so supportive.”

For someone newly diagnosed with ADPKD, Jodie would advise them to talk to people, get to understand the condition, and have open and honest discussions with family, friends and healthcare professionals.