Rare Humans – Anna

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Like her grandmother, father, brother and son, Anna has autosomal dominant polycystic kidney disease (ADPKD). “Knowing that you are likely to end up with kidney failure…is like having a ticking time bomb,” she says.

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.”

PKD in the family

As a child Anna visited her grandmother who was having dialysis at home. She became one of Australia’s longeststanding 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.”

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This (gift) of Life

By Helen

A dozen years ago, Judi and I were two mums who shared a school run for our boys. Our biggest worry then, was when to give up the drive and allow our two fifth graders Michael and Sam to take the train.

At their first sleepover, we shared that each of our sons had polycystic kidney disease, known as PKD. Michael has ARPKD, which affects one in 20,000 births. Because it’s a recessive disorder there was no sign of it in earlier generations. ARPKD children like Michael, need continuous treatment from birth and before long Judi will be his kidney donor. My Sam, like his 3 siblings has ADPKD. He had a 50% chance of inheriting the gene from his father Michael senior, who was then aged 53 and starting dialysis.

Back then, when our kids were young and still at school, we hoped for some kind of miracle to hold back the future choice of dialysis or transplantation; two mums’ ferocious love compressed into a wordless background hum of constant worry. We imagined raising money for research. Supporting some already established group.

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“Do all the things that you want to do, right now”

By Graham Bradley

I discovered that I had PKD back in 1989 after a four-wheel driving adventure on Fraser Island. The rough terrain managed to give me the warning sign. After a visit to my GP on returning home and a scan, he announced that I had PKD and referred me to the Renal Centre at my large, local hospital. After more checks and visits I was advised that it was likely that I would be on dialysis within 5 years (that would be at age 50). I was referred to the hospital dietitian and received lots of other literature. I was a bit shocked by all this at the time in my life. Could not find any family PKD connections. Anyhow from then on, I visited my hospital kidney specialist regularly, followed all the dietary advice, took up regular personal regular monitoring of my BP and decided that I was going to get on with life to the full but within my constraints. I needed to reduce weight, salt and sugar, exercise more…that was the hard one, eat all the right foods that relate to potassium and phosphorus intake, etc etc.

My wife and I loved to travel, not only in Australia but also overseas. Realising that fairly soon we may be restricted by my PKD we hit the road so to speak, caravanning, camping and a number of overseas trips, all under the guidance of my renal specialist.

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Tiny Cysts and Tiny Kidneys

By Charmaine

When my son was born, there were already tiny cysts growing in his newborn kidneys. I knew there would be a 50 percent chance that I would pass on ADPKD to my son, but as I lived a symptomless childhood I did not expect that we would run in to problems so soon.

As a first-time mother I was struggling with feeding issues and my son struggled to gain weight. After several trips back to the hospital I had this awful feeling that something wasn’t quite right. I had noticed rust-like stains in his nappies, which was brushed off by the doctors and nurses.

Eventually he was re-admitted to hospital with a UTI where they failed to get blood after several attempts to take blood from his tiny veins. I had to hold him in a scrunched-up ball as he screamed and the doctors proceeded to perform a lumbar puncture. They wanted to be sure his recently diagnosed UTI had not spread. The antibiotics cleared the infection and after a few days we were released to go home. When the antibiotic course had finished it all happened again, rusty nappies, and an immediate urine test confirmed another UTI. I was a nervous wreck.

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The Women’s Disease

Guest Post-  Janice Creenaune

My name is Janice Creenaune and I have PKD. My mother has PKD. Her sisters had PKD and my daughter has PKD. In my family, through the generations, it was always known as the ‘Women’s disease’. Most, living in the country areas, had limited care. Records are limited. However, I knew of nobody outside of my immediate family who suffered from the disease.

All of you suffering from PKD have a story associated with your illness and many of you have far more complicated conditions. Yet we have much to learn from each other.

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Discovering PKD

Guest Post – Vanessa Cullen

Like many people with Polycystic Kidney Disease, I was not aware of having this affliction until my thirties and were it not for martial arts, I may not have found out until my kidney function seriously started to decline. This is a common story as PKD often shows no outward symptoms until mid life and our bodies can seem quite well right up until near failure.

Here’s my diagnosis story:
It was November 2012 and I was training six days a week. In just a few weeks I was going for my Jujutsu black belt grading. Being thrown to the floor was a near daily occurrence. It was without a thought that I hit the ground to start my warm up that Saturday afternoon.

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A Sister’s story

Guest Post By Mel Cornell

My younger brother was born with Autosomal Recessive Polycystic Kidney Disease (ARPKD). The doctors had assured my parents that it was unlikely he would survive the pregnancy, and once he was born it was clear that every minute was precious.

Though most of it’s a blur, I will never forget the constant visits to the hospital and the endless amount of needles. We were very lucky that he continued to fight the disease and as time went by my sick baby brother soon wasn’t a baby anymore.

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Super humans

Guest Post By Alicia Faehrmann

An old friend once asked me if I could have a superpower what would it be? And I replied with something along the lines of once you realise how hard it is to have a ‘normal’ life, you’ll know that just to be human is itself super. Long before I knew I had polycystic kidney disease, I was taught how to live with a disease by the example of other people in my life who suffer from chronic illnesses.

The first person who comes to mind is my mum, diagnosed with lupus at 26. She too suffers symptoms of hypertension and chronic pain and also has arthritis. In spite of it all she constantly pushes herself to be generous with others. While looking after dad and raising four kids, she was often the first port of call for my grandparents whenever they needed anything and would never refuse them. She is also the most reliable person I know, often agreeing to help out a friend here and there, never failing to through regardless of how worn out she is.

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Another way to live…

Guest Post – Alicia

When I was diagnosed with PKD almost 3 years ago at age 22, I took it as a death sentence. But with three ultrasounds, a chest x-ray, a CT scan, MRI, several blood tests and other jabs against hepatitis A & B, 5 visits to a wonderful specialist and many more to to an equally wonderful GP under my belt, the verdict is clear and the sentence set. I got life.

After the initial shock and I’ll admit, disgust at the discovery of the disease PKD, in a strange twist, being a person with PKD has taught me a lot.

Firstly, I learnt a lot about myself. At first it was difficult to come to terms with because I didn’t look sick, I still don’t. Nor can I see the state of my kidneys without the help of xrays and dye or sound at a higher frequency that 20khz. And reading about it made me feel more isolated – the more I read about my illness, the less I felt I knew myself. However upon reflection, being diagnosed with a disease actually made so much sense.

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“we have chosen not to let his condition define him …”

Guest Post by Jenni Miller

I first heard of PKD in early 2003 when I met my father-in-law, Peter. He was on a dialysis machine set up in the study of their family home.  My husband Damian skimmed over the details of PKD with me that evening, explaining that neither he nor his brother David could donate a kidney to their Dad as they both also had the disease.

Peter passed away later that year – at only 50 years old. It was a huge wake up call and the catalyst for Damien to start thinking more seriously about his future. We married in 2005 and had our first child Ajay later that year.

Damian’s nephrologist appointments were generally uneventful as his kidney function and blood pressure were within a “healthy range” and his specialist said he wouldn’t have to worry about dialysis until later in life. Then in late 2006 Damian took a knee to one of his kidneys in a basketball match and that evening saw blood in his urine. He spent a week in hospital and it was then that we found out his kidney function had declined quite dramatically.

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