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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!
The threat has done little to slow down the pace of her international career or life with her three children. A senior human resources manager with a leading management consultancy, Anna, now in her early 40s, has an overseas role as well as leading the company’s human resources services in Australia. The family’s history suggests that Anna, too, may eventually need dialysis or transplantation. “I try not to be overwhelmed by that, because you could let it become all-consuming,” she says. “Sometimes when I look at the future I pull back and realise that there’s so much more in life. This is just one element that I have to live with.”
As a child Anna visited her grandmother who was having dialysis at home. She became one of Australia’s longest-standing dialysis patients, being treated for more than 20 years. For a child, exposure to an unwell older relative was disturbing. “The machine was like another person in the house,” she says. “It was confronting to learn that her blood would leave her body, get cleaned and get put back in again.”
Anna’s father provided a very different role model. “My father was diagnosed with PKD in his mid-20s,” she says. “He discovered he had the disease but was determined not to become ‘a sick man’. Dad’s been a very positive influence. Like him, I don’t define myself as a sick person or think that PKD should hold me back in any way.”
Anna’s father ignored the fact that he had PKD – he had no symptoms – until his kidneys failed with little warning 20 years after the diagnosis. After about 6 months on dialysis he had a kidney transplant from his brother. “Now in his late 60s he is well, goes to the gym every day, and lives like someone decades younger,” she says.
When Anna was 16 she and her older brother had an ultrasound to check whether they, too, had PKD. “At that point we didn’t know very much, but we had two extreme examples in the family - my grandmother having dialysis and my dad who said there was nothing wrong with him. 'In hindsight, 16 is not a great age to find out something like this but, to be honest, I didn’t think much of it. My mother was very distressed so I knew it was something bad, but in my head I thought, ‘I’m going to be just like my dad’. I was invincible, like all teenagers, and I didn’t really change very much.”
Anna’s younger brother was also diagnosed with PKD, and noticed the first symptoms such as kidney pain and blood in the urine in his early teens. Most recently the family has discovered that Anna’s oldest son has PKD too, after suffering a series of kidney infections at the age of 15.
“I was with him when he had the ultrasound,” she says. “I saw the cysts on his kidneys, and I knew what it meant. He said, ‘It’s fine mum!’, but I did have a heavy feeling of guilt. It’s one thing to have a theoretical discussion when you’re pregnant about the risks for your children, but very different to find out your 15-year-old has the disease. 'He knows about PKD. He has seen me in and out of hospital and thinks it’s no big deal, because he also sees me when I’m very healthy.”
Anna had no symptoms or complications associated with PKD until she became pregnant and had her first child at the age of 25. “I was immediately told it was a high-risk pregnancy. This was the first time I thought that life might not be smooth sailing,” she says. Complications arising from her kidney disease included high blood pressure and pre-eclampsia, requiring multiple hospital stays.
Two years later her second pregnancy was relatively straightforward – although closely supervised by her medical team – and her second son was born. Twelve years later Anna had her third child, a girl who is now almost three years old. It was another complicated pregnancy, but managed expertly by a team including her long-standing nephrologist, an obstetrician, and a physician who specialises in the medical aspects of complex pregnancies.
“When we found out we were pregnant with our first son, one of the first questions was whether we wanted genetic counselling,” Anna says. “I asked about the purpose and was told we could decide not to have that child. I was 25, I didn’t have any complications, I could see that my dad was healthy, so I asked myself, why would I not have this child?” Anna remains very optimistic about the future for herself and her children and the potential advances in PKD treatment. “The world my grandmother lived in when she had PKD was different to the world of my father, and my world, and my children’s world,” she says.
“I bounced back to good health straight after my first two pregnancies,” Anna says. “The other effects of PKD didn’t happen until I turned 30 when I had three kidney infections and a haemorrhagic cyst in one year. Suddenly I thought, ‘OK, I have to think differently about this, it’s not going to be as simple as it has been for Dad. Since then I’ve averaged one major episode of infection or haemorrhage, with a trip to hospital, every year, and it can take up to a month to recover.”
Apart from a short break, Anna has been under the care of the same senior nephrologist since her early 20s. They have an excellent professional relationship in which Anna is acknowledged as an expert in her own disease, and able to recognise when she is becoming unwell. Copies of test results are routinely sent to her as well as her doctor. “It’s your information,” her specialist has told her. ‘Knowing her numbers’, for example about her current kidney function, helps Anna communicate clearly when she needs to consult other health professionals.
She has been lucky to find a GP who understands PKD, including the fact that complications can extend beyond the kidneys. Some years ago she developed a severe and persistent headache and her GP urged her to have some tests. They identified a dissection of her vertebral artery – a small tear on the inside of the blood vessel – which can occur in people with PKD. It responded well to treatment. “Having a good relationship with your GP is critical,” Anna says.
Her experiences have not always been positive. “One doctor was convinced I did not have a kidney infection, when I knew that I did. You do need to be an expert in your own disease, and find doctors who you can trust,” she says. Her workplace has been very supportive during the bouts of illness. “I was very honest when I accepted my current role and have always explained why I need time off work. It can be hard for an employer to understand that someone can have a disease but not be sick. I always have a contingency plan in case I get unwell, and I have an amazing team around me who can pick up things at work. “The long hours and travel are starting to make life harder. I’m not at optimum health and I push it by working hard, but I love what I do and don’t want to be constrained.”
Looking to the future Anna’s nephrologist is optimistic about the status of her kidney function, telling her that the need for dialysis or transplantation is probably 10 years away. “But I know I’m coming up to the age when both my grandmother and my dad developed kidney failure,” she says. “All I can do is stay optimistic, do everything I can in terms of healthy lifestyle, take my medication, and continue to bounce back when I do have complications.”
She appreciates the work of organisations such as the PKD Foundation of Australia and Kidney Health Australia. Anna sees two major roles: connecting the community of people and families with the ‘invisible’ condition of PKD, and supporting research. “There’s also a lot more that can be done to support organ donation,” she says.
“There is so much scope for involvement and advocacy, but maybe that’s for when I don’t have a three year old and a big job!” Being the third generation of her family with PKD, Anna has had the opportunity to come to terms with the disease and its possible implications. And her advice for other people with PKD? “Take life one step at a time.”
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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