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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!
Julie has autosomal dominant polycystic kidney disease (ADPKD), so the cramped back seat wasn’t the most comfortable way to travel. “I think the world is a wonderful place and life is what you make it,” she says. “But sometimes you discover the rules that you think have been set for your life haven’t really been set at all.”
Julie’s grandmother, mother, aunt and son also inherited the condition. Her grandmother started peritoneal dialysis as her kidneys started to fail and about 10 years later had a kidney transplant. The transplant was a success and she lived over another 20 years, into her 80s. “Nana did really well,” Julie says.
Her mother’s course was a little more difficult. She, too, had a transplant, using an unmatched kidney donated by Julie’s father. The transplant performed well for about five years before it failed and her mother moved on to dialysis for a further four years, but dialysis had its complications. Her mother’s sister passed away from a brain aneurysm related to PKD at the young age of 38.
Julie was diagnosed with PKD when she had an ultrasound of her kidneys at the age of 12, but her two brothers are free of the condition. “I started thinking immediately, ‘That’s it, I’m going to die, I’m not going to make 30’,” she says. “So, I lived fairly hard, making the most of it. It’s not nice watching your Nana and your Mum going through what I saw, and thinking, ‘Well, that’s what I have to look forward to.”
In fact, Julie is now just over 50 and has already beaten her target by 20 years. Until the last 10 years or so she has generally been well, but is now working with her medical team on managing the early signs of progressive kidney damage as well as some difficult symptoms. “I see the changes to my body, and it’s like looking in the mirror and seeing my mother,” she says. “But Nana and Mum were both sicker than me at a younger age.”
Julie and her family were convinced that PKD occurred only in girls in their family, as there hadn’t been a case in a male for more than 60 years. When she thought of having children herself, she briefly considered IVF so she could choose to only have boys. “I thought it would keep us safe,” she says. In fact, PKD does not discriminate between males and females, and there is a 50/50 chance that a mother or father with the mutation will pass it on to a child.
“You have to go through the discussion with your husband, saying it’s hereditary, I might get sick. When you are young, it’s quite embarrassing to have to admit there’s something wrong with you,” she says.
Julie had two sons and one was unlucky enough to inherit PKD. “When I was diagnosed my Mum apologised to me so many times. ‘I’m so sorry,’ she said. Now that my son has been diagnosed, I know why she was like that. It is guilt, absolutely.” Julie’s challenges in life have been compounded by a brain injury her son suffered when he was just two years old, leaving him with special needs to the present day.
Julie says that at the age of 40 she was still “hot”, happy about her flat stomach, good health and ability to live life to the full. Since then the symptoms of PKD, which can vary widely from one person to the next, have started to slowly accumulate.
“Underneath this dress I look like I’m seven months pregnant,” she says. One kidney is 26 cm long, and together they weigh about 6 kg.
“I’ve had to learn to dress for it, and it affects my self-esteem. My Nanna’s stomach never got big and I always wanted to be little like her, but I came out like Mum who also had very enlarged kidneys. Why did I have to get the big stomach? Ageing is bad enough, but having this as well is a pain.”
Her purple hair, matching nails and multi-coloured tattoos help her to think about other aspects of her body, and divert people’s attention from her less-than-flat stomach. “As a woman, I am judged,” she says. “I’ve been asked if I’m pregnant, and I’m judged for seeming to be overweight. I can’t wear a sign saying, ‘This is because I have PKD’.”
She also has high blood pressure, a common result of PKD, which now requires medication. A stroke at the age of 27, which initially left her with vision problems in one eye, was probably related to the condition as well. Her stomach is compressed by her kidneys, so she can eat only very small meals and sometimes vomits afterwards.
Julie had been working for many years in disability services, initially with special needs children in schools but more recently in adult rehabilitation. She left work last year on the advice of her GP because of difficulties with the stress of this demanding role combined with tiredness associated with PKD. She has little faith that she would qualify for a Disability Support Pension so the financial pressures are mounting, and in any case she’s keen to return to work in a less stressful role.
Discomfort from her kidneys, sometimes manifesting as outright pain, is a growing concern. “They ache, and they rub on my ribs,” she says. “We looked at the possibility of draining the cysts but they are multiple, so it wasn’t possible.”
Sitting immobile in an airline seat to America, and being cramped in the back seat of the Mustang convertible, was extremely uncomfortable. She desperately wants to go overseas again, but the prospect of any long trip is daunting. “And I’ve never been able to get life insurance or travel insurance,“ Julie says.
When Julie was a teenager her medical care was overseen by her mother’s nephrologist, but as a young adult she found her own kidney specialist who has guided her ever since. Initially she saw her doctor for monitoring every few years, then annually, then six-monthly, and now every three months.
Her medications include treatment for high blood pressure and high cholesterol level, occasional pain relief, and she is involved in a clinical trial of a potential new treatment. Julie agreed to join the trial about seven years ago. “I was a great candidate because I had normal kidney function but was well into the disease,” she says.
Working closely with her medical team has been vital for Julie in managing her PKD. She is full of praise for the care provided by the hospital, especially her nephrologist and specialist nurses. “The staff I deal with have never made me feel like a number or ‘just another patient’,” she says. “My nephrologist considers my point of view and discusses the benefits and possible complications of treatment with me.”
PKD is not a common condition and people living with it tend to become experts in their own disease. Julie has found it a little difficult to identify a GP with an understanding of her medical issues, but thinks she has now succeeded. Her GP and nephrologist collaborate in providing comprehensive care, both for her PKD and the usual medical issues of mid-life.
Although her kidney function has been completely normal for many years, recent tests have shown some deterioration and discussions about dialysis and transplantation have a heightened focus. “I wasn’t surprised. I’ve spent most of my life expecting it,” Julie says.
One possible benefit of transplantation may be the removal of one or both of her enlarged, problematic cystic kidneys, reducing her constant discomfort and restoring the body shape of her early 40s.
“I like the idea of a transplant and see it as a natural progression of PKD. My mother’s experience wasn’t what I would call a huge success, but my Nana’s was brilliant,” she says. “It’s all about our own choices. It’s our body so ultimately we have to take responsibility for that. 'I can’t stress enough the importance of being able to talk frankly with the treating doctor and having the type of good and honest relationship that I’m lucky enough to have. Doctors are different these days compared to when my Mum and Nana were being treated – they are people you can have a discussion with.”
Julie’s message for someone just diagnosed with PKD is to find a medical team that you are comfortable with. “You need to be comfortable, because it’s such an intimate disease,” she says. “If you have trouble finding that, then look at the networks that have been formed for people with PKD where you can ask other people questions."
“And remember that it’s not a life sentence. I have purple hair, and I’m an optimist.”
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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