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Welcome to my blog. I document my adventures in travel, style, and food. Hope you have a nice stay!
Laura, 29, also has the condition and is following her mother’s example, leading a productive and active professional and personal life while working hard to maintain her health.
“My mum was the strongest person I have ever seen,” Laura says. “She never said, I can’t do this because of my disease or because I’m unwell.”
A social worker who is passionate about her contribution to disability care in Melbourne, Laura was aware from the age of five or six that she, too, could have this inherited condition. “It has always been part of my life,“ she says.
Laura had a medical check-up before starting a volunteer role when she was 21 and chose to check whether she had PKD too. Until that time there was little point in pursuing the question, as she was healthy, had no symptoms, and knew that problems with kidney function did not usually emerge until a little later in life.
“My grandfather had PKD. My mum was one of five children, and she and her sister both had PKD as well,” she says. Laura’s aunt, as well as her mother, inherited the condition.
“For us, having a mother with PKD was normal,” she says. “We never knew anything else. Mum was quite unwell for a lot of my life, and as the oldest child I had to pick up things for the family as I watched her on her journey.”
Her mother’s path became complicated when she developed breast cancer and was treated with aggressive chemotherapy which may have hastened the progress of her kidney disease. She started peritoneal dialysis when she was about 40 and then progressed to haemodialysis after about seven years. A kidney transplant was not successful, and she passed away. Tragically, her aunt with PKD had died six weeks earlier in the same hospital.
Laura says she was pragmatic when she was diagnosed with the disease herself, as she was not surprised and wanted to focus on how to live her life. “The hardest thing was telling Mum, so I kept it a secret for quite a while. But my father found out and then I had to tell her.”
She has stayed healthy, active and positive in the eight years since her diagnosis. She takes two medications for high blood pressure, a common result of the condition, but has no symptoms and has never been admitted to hospital even though her kidney function is currently about 20% of the healthy level. “I’ve been really lucky,” Laura says.
Laura was monitored by kidney specialists, initially every 12 to 18 months. About two years ago she agreed to participate in a clinical trial of a medication in autosomal dominant PKD. “There was very little the clinic could offer until the trial came up,” she says.
“Kidney health has always been a big thing for me, growing up with it in my life. After watching my mother’s progress, if there was a way I could delay that for myself, or support any advancement in the field, I knew it would be a good thing.”
Close monitoring and regular assessment as a participant in the trial has been a positive experience for Laura. She has also benefited from having a GP who understands her PKD, is committed to her care, and works with her kidney specialists to keep her well.
“I’m inquisitive, so I ask questions,” Laura says. “I search for information if I’m not offered it, and that way I can feel in control of my life.”
Laura has found information sessions organised by the Australian PKD Foundation (pkdaustralia.org) helpful for both her and her partner, and she also accesses the resources offered by the American PKD Foundation (www.pkdcure.org) including regular webinars.
She has been an active fundraiser for Kidney Health Australia, attracting up to $3000 in sponsorship in walks and other events. “My friends know about PKD and my family, and they want to help,” she says.
Laura would like to see more recognition of the fact that kidney disease can affect young people, not just older people. “Young people need support too,” she says. “It’s also important to recognise that everyone is an individual, and affected in their own way by disease.”
And her advice for someone who has recently been diagnosed with PKD? “It sounds like a cliché, but the more you are aware, the more you can prepare!”
Laura is about to travel to the United States to celebrate her 30th birthday, including time exploring New Orleans. The trip symbolises the fact that PKD is not imposing any limits on her life.
“I play netball once a week, I go to the gym twice a week, and I like swimming,” she says. “My mum was a home economics teacher and an amazing cook. Food is a big thing for me, and I still enjoy it.”
Although she’s careful about “burdening” other people with her condition, Laura told her partner about PKD very early in their relationship. Now almost 30, she is facing difficult decisions about the possibility of having children. “It’s complicated,” she says.
The issues include her ability to carry a pregnancy, the risks of her child inheriting PKD, and the very difficult dilemmas of pursuing IVF and testing whether or not an embryo is carrying the gene. “If I had a child with PKD, I would hope that science will have advanced enough to support people with the condition,” she says.
A graph printed by her GP shows a steady reduction in Laura’s kidney function, measured by glomerular filtration rate (GFR). It was about 60% of the normal value when she was first diagnosed eight years ago but is now hovering around 20%. “I think that’s quite a decline,” she says.
Her medical team tells Laura that she will probably need dialysis when her kidney function drops to below about 15%, but the path is unpredictable. “I’m not scared of dialysis because it’s such an ingrained part of my life, having seen my mum go through it,” she says. “But not knowing when this might happen is a problem. I would prefer to know when I’ll need it, so I can plan my life.”
And transplantation? “I won’t accept a living donor from a family member,” she says. “It’s too much pressure on them, and I saw my mum have an unsuccessful transplant. I would hate that to happen if someone had given me a kidney.”
Laura acknowledges that PKD is a significant part of her family’s history, and her own life. “But I don’t feel it defines me,” she says. "There are so many other important things that take precedence, like a strong relationship, a fantastic family, and being supportive of them. I’m now the matriarch in my family – it’s a role you have to accept.”
33 years
Melton, VIC
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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