Carole Bartlett chose not to ‘watch and wait’, as suggested by a renal specialist in hometown Perth, after being diagnosed “very early” with a blood disease.

“I was very nervous about waiting,” said Carole, 64, a research assistant at the University of Western Australia (UWA).

So she travelled across Australia for further tests and advice that suggested having a stem cell transplant as soon as possible.

Her symptoms were minor – changes in her hair and nails, feeling more tired than normal, some weakness in her arms, and losing a bit of weight – “not something I’d go to the doctor for on their own”.

Carole’s diagnosis took eight months and began when her GP noticed changes to her cholesterol and albumin from regular blood tests taken to monitor menopause. When urine tests showed Carole’s protein was higher than normal, she was referred to a renal specialist who did a free light-chain test.

“It came back positive for paraprotein, then a kidney biopsy showed amyloid in the kidneys,” said Carole.

Bone marrow biopsy

Next, she saw a haematologist and had a bone marrow biopsy. A clone of cells producing excess levels of lambda free light-chains confirmed a rare blood disease called AL amyloidosis.

“It’s important to know what kind of amyloid you are dealing with and I’d been picked up pretty early which is unusual,” said Carole.

“Being in medical research, I wanted to find out as much as possible about the disease, and I have access to research journals and scientific papers, which I delved into.

“Initially, I was shocked. A lot of articles said prognosis was very poor but the more I read, I realised… that’s not the case for everybody. There are people who are picked up earlier, and the message – ‘early diagnosis and early treatment resulted in the best outcomes’ – came out again and again.

“This reassured me, but at the same time my renal physician was saying we’d just watch and wait and see what my protein levels did.

“I’d been handed back to the renal physician for treatment and it seemed he was waiting for my kidneys to get significantly worse before doing anything.

“He talked about eventually going on to chemotherapy but I couldn’t see the point of waiting and didn’t have a lot of confidence in this approach,” said Carole, and she was concerned about having a blood disease but not being treated by a haematologist.

“After my diagnosis, I contacted the Leukaemia Foundation and was put in touch with a patient advocate in Brisbane who specialised in support for people with this disease.

“She became my life jacket, keeping my head above the water. She was always at the end of the phone line, gave me family counselling, information and perspective. In fact, she completely changed my life.

“She also put me in touch with my local Leukaemia Foundation office and another patient in Perth who I started meeting up with for coffee and a chat. He was very supportive in terms of telling me what he’d been through.

“The most important thing to me was to make a decision about treatment,” said Carole, who was becoming increasingly concerned as her monthly renal tests showed her kidney function was dropping.

“Things were getting worse but no treatment was being instigated.

“A problem with amyloidosis is that it is a rare disease and not all doctors are up to speed with current developments. Getting to see the right people is very important.

“I knew there was a specialist amyloidosis clinic at the Princess Alexandra Hospital in Brisbane and asked my GP for a referral to go there for a second opinion,” she said.

Amyloidosis tests

In November, she made the trip to Brisbane. More tests confirmed her diagnosis and she saw three different amyloidosis specialists.

“They said they would get me straight on a stem cell transplant regimen because I was young enough, healthy enough and that was the best option for me. I felt empowered by that,” said Carole.

Back in Perth, she set the wheels in motion. She got a referral to a haematologist she’d heard was running a clinical trial for an amyloidosis treatment, and contacted him personally, asking his advice and opinions.

“He agreed I should get treatment as soon as possible and felt I was a good candidate for a SCT. The trial was not my best option as it was randomised; with only a 50% chance of getting the new drug combination.”

Starting chemotherapy

On Boxing Day 2011, Carole started chemotherapy – three rounds of cyclophosphamide, dexamethasone and thalidomide over nine weeks. After a break, her stem cells were harvested and she had an autologous stem cell transplant on 15 April 2012.

Her husband, Peter, took charge of the home environment and cooking, drawing up a menu of sterile meals for when she was neutropenic.

“We were anal about cleanliness, knowing the main problem was infection post transplant. We changed sheets, towels and pajamas and wiped down surfaces with alcohol, initially every day.

“I remained infection-free, so it was worth it,” said Carole.

Returning to work after treatment

She returned to work in July 2012, has since “got better and better”.

“It took a while for the free light-chain levels to come down and they are now in the normal range. My kidney function has improved over the years, but is still not quite normal,” said Carole.

Her life though is back to normal.

“I really enjoy my work, being with friends, getting out and walking, cooking, photography and spending time with my family.”

She has three grown children, recently became a grandmother and hopes to retire at the end of next year.

Amyloidosis story

Having amyloidosis has changed Carole’s outlook on life.

“I’m really grateful to be where I am. Even when things are a bit tough, I’m grateful to be here to experience them. It could have been a very different story.

“I look at the positive side of any situation and I don’t like to waste time. I appreciate that time is short, so you have to make the most of every day.”