A trial put Joe in remission for six years and counting
Jozsef (Joe) Mulaahmetovics was among the 13 Australians with amyloidosis who participated on the international ALLG MM13 trial which he says saved his life.
When he was diagnosed with AL amyloidosis in the heart, in January 2013, Jozsef had never heard of the disease.
“Amyloid in the heart causes the heart to stiffen so it is unable to fully relax and fill up with blood,” said Joe, 65, a retiree.
“Even though the heart muscle may still be able to contract normally, blood supply to the body is less efficient, so there may be reduced blood flow to vital organs.”
The thickness of Joe’s stiffened heart wall was 12.5 mm. This has since reduced to 11 mm which he says, “is not much”, and it causes ongoing fatigue and weakness.
Soon after his diagnosis and before starting any other treatment, Joe’s haematologist, Dr Peter Mollee, mentioned a clinical trial. Within a few days Joe was accepted on to that trial and not long after that he started the treatment protocol.
“When you are diagnosed with a life-threatening disease and your survival chance is very slim, you are absolutely shocked, so I was very happy and lucky to have the opportunity to go on the trial.
“The chemo was melphalan and dexamethasone, and for a few lucky patients like me, I got the additional bortezomib (Velcade®) injections in the stomach twice a week for the first four weeks.
“When my stomach became really red and hot and covered in welts, I was administered the bortezomib in the arm from then on.
“I was thankful to be accepted on the trial and even happier when I found out my body was responding to the bortezomib.”
At the time Joe and his family were living on Queensland’s Gold Coast.
“During the trial we travelled to Brisbane’s Princess Alexandra (PA). Hospital to get the Velcade injection 2-3 times a week, sometimes more often. We didn’t need to stay overnight.
“My treatment started in June and finished in late-December in 2013,” said Joe who hasn’t had any further treatment for amyloidosis since.
“My body slowly started to respond to the treatment and my blood count started to move down slowly. It was a slow process, but positive signs started.
“Around late-November, Dr Mollee reduced the amount of Velcade because I had more and more side-effects. He was worried about permanent damage.
“After the treatment I went to PA for a check-up every 3-4 weeks, then later on, it was every six weeks.
“It took nearly two years when Dr Mollee said, ‘you are in remission’.”
“Prior to starting the trial, I also underwent a stem cell collection procedure for future treatment if necessary,” explained Joe, but he hasn’t needed to use these stored stem cells.
Now Joe, his wife Katalin, and their daughter, Sylvia, (pictured above) live at Bribie Island north of Brisbane.
“Constant fatigue forced me to stop working. I was an accommodation manager at the Gold Coast, responsible for taking care of a holiday complex and letting the apartments,” said Joe, who is still plagued by a range of side-effects.
He describes these as including “nerve pinching, joint pain, pain in my toes, shooting pain in the side of my leg, blurry vision sometimes, shaking hands, tiredness, numbness in fingers, left leg and arm, forgetting words, dizziness, derealisation, and brain fog sometimes.
“But all things considered, I feel very lucky.”
“If there is one thing I could tell other people diagnosed with amyloidosis, it would be to never give up.
“I feel extremely lucky to have been diagnosed at an early stage and that I received help immediately. After six months of chemotherapy treatment I’m still in remission. I feel happy.’
“It is very important to stay strong and positive mentally. Follow the doctor’s orders, eat well and rest as much as you can. Join groups and meet other people with the same condition.”
Joe continues to have three-monthly check-ups, which includes an amyloid blood and urine test, and once a year he has an ultrasound and x-ray.
“I’m still in remission and I am absolutely sure the treatment saved my life. I wouldn’t have survived without it, and Dr Mollee,” he said.
“Living with amyloidosis can certainly be challenging but a positive attitude and having the support of medical professionals and your loved ones goes a long way in fighting this disease.”
Joe goes to meetings with other amyloid patients at the Leukaemia Foundation.
“In the initial stages of my diagnosis they [the Leukaemia Foundation] provided a one-off rebate on one of my household utility services, which was of great assistance.”
A clinical trial, demonstrating the benefit of bortezomib (Velcade®) in improving response rates and overall survival in AL amyloidosis, is described as “a staggering result, almost never seen in blood cancers”.
Long-term follow up of patients enrolled in an international Phase III AL amyloidosis trial, known in Australia as ALLG MM13, and funded here by the Leukaemia Foundation, has shown that bortezomib treatment results in a ~30% absolute improvement in survival, said Associate Professor Peter Mollee, a consultant haematologist in clinical and laboratory haematology at the Princess Alexandra Hospital (Brisbane), Associate Professor with the University of Queensland Medical School, and chair of the Scientific Advisory Committee of the Australasian Leukaemia & Lymphoma Group (ALLG).
Last month, the results of the ALLG MM13 study, that tested a new standard of care for patients with AL amyloidosis, were published in the Journal of Clinical Oncology.
The randomised, controlled study of melphalan and dexamethasone versus bortezomib, melphalan and dexamethasone, investigated the haematologic response after three cycles of therapy in previously untreated patients with systemic light-chain (AL) amyloidosis.
There were 109 participants from 10 countries in the trial, including 13 Australian amyloidosis patients; just over 1/10th of the trial enrolment, which A/Prof. Mollee said was “quite a lot more than most other countries, on a per capita basis”.
The study, which opened in 2011, was run by the ALLG at four hospital sites in Australia, and was completed in January, after extended follow-up.
ALLG MM13 results “staggering” and produced “amazing data”
A/Prof. Mollee said the trial results showed not only that the proportion of patients who achieved a response was higher, but the responses were far deeper.
“The trial was powered to show a difference in the haematologic response – that is, how low you could push down the light chain that was causing the problem, by killing the cells that are making the light chain,” explained A/Prof. Mollee.
“The haematologic response rate overall was 79% in the bortezomib arm and 62% in the control arm, but deeper responses (technically known as a very good partial response or a complete response) were 64% in the bortezomib arm and 39% in the control arm, and these were highly significant differences.
“Response is important, but you’re always looking for a good improvement in the organs affected by the amyloidosis, and also that you may prolong the patient’s life,” said A/Prof. Mollee.
“And this is where there was a very surprising result; the magnitude of improvement in the number of patients alive in the group that got bortezomib.
“In the patients who received the bortezomib, the proportion of patients alive four years after completing their course of treatment was around 70%, whereas the proportion of patients alive in the arm that didn’t get bortezomib was around 40%.
“So, if you got the bortezomib, that’s almost one in three patients who were alive, who previously wouldn’t have been. When you look at randomised trials and cancer treatment, you rarely see that improvement in overall survival,” said A/Prof. Mollee.
“I think it’s quite a staggering result.”
“These patients had their treatment between 2011 and 2017, and now we’ve got enough follow-up to know the really important outcomes; how many patients are alive four to five years down the track.
“We know that data, and it’s amazing data.”
However, despite the results of this trial, bortezomib is not approved specifically for AL amyloidosis, in Australia or anywhere else in the world. In fact, worldwide, there are almost no countries where any drug has yet been approved for AL amyloidosis.
AL amyloidosis patients can only access bortezomib on Australia’s Pharmaceutical Benefits Scheme if they also have a diagnosis of myeloma.
“So, we’ve got a great drug, but it’s not always easily available at this stage,” said A/Prof. Mollee.
The first-ever trial in AL amyloidosis in Australia – the ALLG MM8 study – looked at melphalan and dexamethasone in various doses and was supported with a $30,000 grant from the Leukaemia Foundation in 2005.
Several years later, when the results of the Phase II trial were presented at a European meeting and A/Prof. Mollee spoke to amyloidosis experts there, discussions raised the need to internationally collaborate. With AL amyloidosis being such a rare disease, single countries couldn’t conduct randomised studies due simply to not having enough amyloidosis patients to participate.
“Professor Giampaolo Merlini from the Pavia Amyloidosis Centre in Italy had an idea for a trial looking at bortezomib, and the possibility of Australia joining the trial came up,” said A/Prof. Mollee.
Bortezomib was highly effective in myeloma – a related disease – and looked likely to being effective in AL amyloidosis too.
“A trial was designed to add bortezomib to what was then the standard of care for most patients; melphalan and dexamethasone, to see if it improved outcomes in amyloidosis,” said A/Prof. Mollee.
However, the European Myeloma Network that was sponsoring the trial didn’t have the ability to sponsor it in Australia.
“We took a proposal to the ALLG to run the trial, with some funding and supply of the drug from Janssen (the manufacturer of bortezomib), and a $105,000 Grant-in-Aid from the Leukaemia Foundation,” said A/Prof. Mollee.
“This trial – ALLG MM13 – wouldn’t have happened in Australia without the Leukaemia Foundation grant!” he said.
“It was a substantial grant and it enabled us to have enough money to bring the trial to Australia.”
“When this trial was designed, pharmaceutical companies were reluctant to run a study in this disease.
“This is one of the advantages of investigator-initiated trials. Researchers can try to answer important questions in rare diseases.
“This trial broke new ground in AL amyloidosis.”
“Since this trial, a number of pharmaceutical companies have sponsored studies because they have seen that you can do trials in this patient group, the international amyloid community could work together, and there was a good chance that their drugs could get to market.
“But I don’t think any of that ever would have happened without this study (ALLG MM13) proving that the networks were there internationally to make studies work.”
Delaine Smith, CEO of the ALLG said, “the ALLG is proud to deliver research that makes a significant impact locally for Australian and New Zealand patients as well as having global reach.
“As Australia and New Zealand’s only not-for-profit cooperative trials group focusing on all blood cancers, the ALLG is privileged to offer a range of important trials in challenging disease areas such as AL amyloidosis.
“In fact, we have another AL amyloidosis trial in the pipeline to launch in 2021. The outstanding results from the ALLG MM13 trial will help deliver better lives and better treatments for patients with AL amyloidosis here and around the world.”
A/Prof. Mollee said that while bortezomib was very effective, it was not for everyone and was a more difficult drug to use in patients with AL amyloidosis, compared to in myeloma patients.
“Patients with myeloma have a large amount of cancer cells, but typically speaking, preserved organ function, so their heart, kidneys and liver are all normal.
“But while the tumour bulk in AL amyloidosis is very low, the organ function is compromised because of amyloid deposition in those organs.
“This means their heart, or kidneys, or liver, or nerves aren’t functioning properly; all of which are very common issues for patients with AL amyloidosis.
“So any drug is more poorly tolerated in this group of patients than it is in a population with preserved organ function.
“If you get an infection and you’ve got amyloidosis, it’s much more difficult to handle than if you’ve got a cancer but have preserved organ function,” said A/Prof. Mollee.
On top of that, bortezomib has particular toxicity on the nerves; an organ system that’s often damaged in amyloidosis to start with, said A/Prof. Mollee, so you’ve got far less reserves to deal with the side-effects of the drug.
On the bortezomib arm of the MM13 study, A/Prof. Mollee said people did get more side-effects overall, “particularly problems with peripheral neuropathy (nerve damage) which can persist, more problems with low blood counts, and heart failure in patients with cardiac involvement”.
“Patients with AL amyloidosis need to be aware of that, but while the side-effects are more in the short-term (during the treatment period), there’s a long-term payoff.”
While A/Prof. Mollee doesn’t have information on how many patients have had to go on treatment following the trial, he said, “in the majority of patients, the light chain that causes the disease will come back again at some stage, in which case they move on to the next line of treatment”.
“There are more and more options becoming available for patients whose AL amyloidosis has come back. There is no doubt that we are making real progress in this rare disease which is great news for patients,” said A/Prof. Mollee.
Associate Professor Peter Mollee discusses issues around AL amyloidosis
Associate Professor Peter Mollee is a consultant haematologist in clinical and laboratory haematology at the Princess Alexandra Hospital (Brisbane), Associate Professor with the University of Queensland Medical School, and he chairs the Scientific Advisory Committee of the Australasian Leukaemia & Lymphoma Group (ALLG).
He describes AL amyloidosis as a rare disease where plasma cells in the bone marrow make an immunoglobulin light chain, which circulates in the blood. In AL amyloidosis, that light chain misfolds and deposits as amyloid in any of the body’s tissues, except the brain. It interferes with the function of the organ/s affected, leading to organ failure and ultimately, without treatment, to death.
This condition has a poor prognosis if diagnosed late. Late diagnosis still occurs because amyloidosis is uncommon and can present in an enormous number of ways and to numerous different types of doctors and specialists. In the past, there was a lack of effective treatment options, however, treatments and outcomes are now improving rapidly.
Almost nowhere in the world* is there a drug specifically approved for AL amyloidosis and, according to Associate Professor Peter Mollee, that’s a common problem for a lot of rare diseases.
“And the problem with amyloidosis is… it’s a rare disease,” he said.
“It’s tough to raise money and generate awareness for rare diseases. We don’t have a prime minister or film star who has it. It’s not highly visible in the media like breast cancer, heart attacks or kids with cancer. No one can spell amyloidosis, and very few people have heard of it!” explained A/Prof. Mollee.
Back in 2001, while on an overseas fellowship at the Princess Margaret Hospital in Toronto (Canada) A/Prof. Mollee was given a project, to write-up the hospital’s experience in transplanting amyloidosis patients.
“It was then that I became involved in the management of those patients and developed an interest in the disease,” he said.
Putting amyloidosis on the medical map in Australia
When A/Prof. Mollee returned to Australia, in 2003, he found there were no amyloidosis clinics or services here, no patient information, there were a lot of problems with diagnosis management, and there had never been an Australia-wide clinical trial for the disease.
“There was no coordinated approach, so there was a gaping hole in what was required. At the time, a group of Brisbane specialists interested in amyloidosis, together with social worker Ms Pat Neely, had already identified these issues and was working towards developing solutions. I just fitted in with their plans and slowly over the years the situation has improved,” said A/Prof. Mollee.
“Initially, the only philanthropic organisation that would help us was the Leukemia Foundation in Queensland, even though a lot of amyloid is not blood cancer. They were happy to take it on and provide some support, which was invaluable.
“The Leukaemia Foundation funded the first-ever amyloidosis clinical trial in Australia in 2005, and as there was no patient information in Australia at all, they helped us with the first patient information booklet.
“Pat Neely did a research project as part of that clinical trial, interviewing patients and carers, that led to the information in that booklet.
“We specifically found out what the issues for the patients and carers were, as opposed to medical professionals just writing what they thought was important.”
Gradually multi-disciplinary amyloidosis centres were established in the state capitals – in Brisbane, Sydney and Melbourne, and more recently, Perth.
“The Australian Amyloidosis Network (AAN) is an affiliation of these amyloidosis centres, dedicated to the diagnosis and management of Australian patients with all types of amyloidosis,” explained A/Prof. Mollee who, together with Dr Simon Gibbs, Professor Graeme Stewart, Dr Fiona Kwok and Pat Neely, was instrumental in the formation of the AAN.
“The amyloidosis centres have been invaluable because, with all the organs involved with amyloidosis, you need a multiplicity of specialists besides haematologists, particularly cardiologists and renal physicians, because those organs are so often affected, and neurologists as well,” said A/Prof. Mollee.
“We’ve done a lot of work in diagnosis with pathology. That was poor in Australia, and it’s still not optimal, but is improving all the time.
“And we’ve managed to bring a number of trials to Australia, and that’s been really beneficial.
“So there’s a big – well, big for a rare disease – body of activity going on behind us.
“Overall, things are really progressing, never as quickly as you would like, but definitely better than 20 years ago.”
Accessing treatments in AL amyloidosis
“There are a number of issues in Australia, and the main issue is that it’s often difficult to get the drugs you want,” said A/Prof. Mollee.
Despite bortezomib (Velcade®) showing improved response rates and overall survival in the ALLG MM13 trial, A/Prof. Mollee said the treatment was not yet approved for AL amyloidosis by the Therapeutics Goods Administration (TGA) or listed on the Pharmaceutical Benefits Scheme (PBS) for amyloidosis patients.
“So, we’ve got a great drug but it’s not specifically registered for patients with AL amyloidosis at this stage,” said A/Prof. Mollee.
“It’s a similar problem in most countries around the world - there is still no drug approved for amyloidosis, specifically.
In Australia, AL amyloidosis patients can only access bortezomib on the PBS if they also have a diagnosis of myeloma.
“Fortunately, a good proportion of amyloidosis patients in Australia would meet that definition of having myeloma, so they can access drugs on the PBS.”
But not all of them can though, and that’s a problem for those patients who don’t meet the definition of myeloma. It can be difficult for their doctors to get hold of bortezomib, unless they can access it through the hospitals, insurers, or by self-funding.
A/Prof. Mollee said that while there are various ways people with AL amyloidosis can access treatment, none was optimal.
“The main game in Australia, where we’ve got an egalitarian approach to healthcare, is to have bortezomib available to everyone, whether they’re rich or poor, whether they’ve got health insurance or not, no matter where they live; they should have access to this treatment.
“We need to get these agents listed, one, by the TGA to be registered for amyloidosis on the label, and two, to get them funded on the PBS.”
This applies to other drugs besides bortezomib. Many drugs that work well in myeloma also are effective in AL amyloidosis. While our access to PBS-funded drugs for myeloma is quite good, unfortunately it can be much more difficult to access such medicines for AL amyloidosis patients.
A/Prof. Mollee also noted that there is a small proportion of patients for whom it’s not appropriate to use bortezomib, “mostly because they’ve got severe nerve damage as part of their amyloid”.
“It can be dangerous to use bortezomib in such patients. That group aside, there’s also a small group of patients that would not receive initial chemotherapy but be taken straight to a transplant; that’s appropriate as well.
“Another issue in managing patients with AL amyloidosis is that, because of impaired organ function, many treatments can be difficult to tolerate. Patients often have significant heart or renal failure which can limit the type and dose of drugs that can be given. Supportive care to optimise organ function and quality of life becomes very important.”
Clinical trials in AL amyloidosis
The bortezomib-based regimen (cyclophosphamide, bortezomib, dexamethasone) forms the backbone of several clinical trials that have gone forward.
One such recent trial has examined the addition of an anti-CD38 antibody that is effective in myeloma, daratumumab, to the bortezomib-based regimen. Accrual for this trial closed recently in Australia and A/Prof. Mollee said the initial results, which have just been reported in Europe, “were very promising”.
The next trial for newly diagnosed patients which is planned to come to Australia will assess a new anti-fibril antibody called CAEL-101. This new antibody binds to amyloid deposits in the tissues in order to send a signal to the immune system to remove already deposited amyloid from the organs.
The trial plans to test whether the addition of CAEL-101 to bortezomib-based chemotherapy improves the outcome of patients with AL amyloidosis involving the heart.
“Another drug combination, which we hope soon will be trialled for amyloidosis, is isatuximab (a monoclonal antibody to CD38 that’s similar to daratumumab), and pomalidomide (an immunomodulatory drug) in relapsed and refractory amyloidosis. This trial offers a new promising combination treatment to patients whose amyloidosis has come back after initial therapy.
Amyloidosis incidence and prevalence
When asked, how many people in Australia have amyloidosis and of them, how many would have AL amyloidosis, A/Prof. Mollee’s response was, “we don’t know the exact answer”.
“We performed Australia’s first epidemiology study, which was published in 2019, using data from all the pathology laboratories in Queensland that do amyloidosis testing,” he said.
“Until then, we had no data in Australia about how common the disease was, and that’s very standard but essential information for any disease. This shows how far behind the goal posts we were on this disease – we didn’t even know how common amyloidosis was in Australia. That project took five years to complete.
“It’s quite time consuming to get all the ethics approvals and governance approvals necessary for that type of research, especially when it is mostly conducted in doctors’ spare time.”
Based on all the pathology reports that mentioned amyloidosis, the incidence of newly diagnosed amyloidosis is 12 patients per million people per year.
“Unfortunately, that study couldn’t tell us in depth information on the types of amyloid, but we looked at it indirectly and the incidence of AL amyloidosis is probably around eight per million per year. So, based on Australia’s population of 25 million, that’s about 200 new cases per year.”
And A/Prof. Mollee said there was another interesting aspect to amyloidosis.
“A complicating factor in assessing the incidence of all types of amyloidosis is that there is another type of amyloidosis, called transthyretin amyloidosis, that is currently vastly underdiagnosed and wouldn’t have been captured in our study.”
“Autopsy studies on older patients in the general population, aged 90-100, have found one-quarter of them to have amyloid deposits of transthyretin,” said A/Prof. Mollee.
“Those deposits are not enough to cause disease, such as heart failure, but these studies do show how extraordinarily common amyloid deposition is.
“That type of amyloid [transthyretin], typically causes heart problems in older men. In the past, it just hasn’t been diagnosed because doctors tended to not investigate 80-year-olds who get a bit short of breath or have a thick heart on scans. That is all changing now as effective treatments become available.”
A/Prof. Mollee said there were probably thousands of cases in Australia that are undiagnosed, and that transthyretin amyloidosis will become the most common cause of any amyloidosis by far.
“That’s a separate form of amyloidosis and a different issue from AL amyloidosis, but it makes it hard to answer the question about how common amyloidosis is.”
A/Prof. Mollee said there was no prevalence data because there’s no amyloidosis registry in Australia. Amyloidosis is an uncommon disease, but it’s not a notifiable disease like cancer, so we have no good data source to answer such questions.
“Having said that, we’ve got a number of patients with AL amyloidosis who have been treated and their amyloid hasn’t come back. There are long-term survivors and some of them have no evidence of the disease,” said A/Prof. Mollee.
“We’ve seen patients whose organ functions returned completely to normal and, at least on the tests we’ve got available, their organs look normal.”
Whether AL amyloidosis is a blood cancer or a blood disorder, A/Prof. Mollee said, “that’s a difficult question in the field of amyloidosis”.
“This partly comes back to, what is cancer? You think that is a straightforward thing, but it’s not.
“When does a disease go from a pre-cancerous position to a benign cancer, to a malignant cancer? These are concepts that are not straightforward to researchers in the field.
“And it’s very difficult to explain those concepts to the public and patients.
Most patients with AL amyloidosis have an underlying bone marrow condition called ‘MGUS’ which is a monoclonal proliferation of plasma cells and which is generally considered a premalignant condition. MGUS can progress to myeloma in a small percentage of cases.
As such, most patients with AL amyloidosis don’t have what most people think of as cancer in their bone marrow. On the other hand, most drugs on the PBS are only available for patients who have the blood cancer, myeloma. In this regard, it can be an advantage for AL amyloidosis to be considered a blood cancer because accessing treatments becomes easier if you have a diagnosis of myeloma.
“So, it’s caught up in semantics and terminology. AL amyloidosis is definitely a blood disease. It’s closely related to myeloma. Calling it a cancer causes trouble. Not calling it a cancer causes trouble. It’s hard to know what the right thing to say is,” said A/Prof. Mollee.
* Bortezomib is approved for AL amyloidosis in New Zealand.
Fahimeh Taheri’s amyloidosis was picked up very early. She can pinpoint the time when she started developing the disease. It was around February 2012, when she was 54.
She knows that because, as a registered nurse, she sometimes checked her own urine, and there was no presence of protein in the last test she did, two months before a kidney biopsy showed she had amyloid in her kidney. [Amyloid can harm the kidneys’ filtering system, causing protein to leak from your blood into your urine.]
Fahimeh, 62, of Hobart, has been in remission for seven years – since July 2013 – and believes her early diagnosis was important to achieving her disease-free outcome.
She and her family migrated to Australia from Iran in 1998, and Fahimeh, who had been a teacher, changed her career to nursing. She studied and completed her Bachelor of Nursing and had just started a new job at a hospital dialysis unit when she was diagnosed with AL amyloidosis in April 2012.
Fahimeh’s diagnosis and initial treatment
The mother of three started feeling very tired, and by 9pm she was drowsy and sleepy, which was unusual given she was used to staying up well into the night reading. She also noticed a change in the shape of her nails.
“I was sure something was wrong with my body,” said Fahimeh, so she went to see a GP.
The doctor ordered blood tests to check her iron and asked Fahimeh for a urine sample which was tested on the spot. It showed the presence of protein.
“I told the doctor, that’s very strange. I’d never had protein in my urine,” said Fahimeh.
“Then the blood test showed no iron and I was sent to a nephrologist who did the kidney biopsy, and then I had a bone marrow biopsy as well, and that showed I had AL amyloidosis plus smouldering myeloma.”
Her initial reaction was disbelief.
“At first, I was like – it’s wrong, the tests are wrong. I have always been a healthy, happy person and very strong… what happened to me?”
“My response was – it’s a bad dream. I wanted to sleep and get up, open my eyes and say, ‘it was a bad dream’. But it wasn’t.
“My haematologist was so positive explaining the treatments, and at the same time he told me there is no cure!
“I had never heard of amyloidosis, so straight away I went to the internet and read that from diagnosis to finish is six months, maybe a year. It was so depressing.
“When I told my nephrologist this, he said not to look at the internet, and that the treatment had changed from years ago.”
Under the eyes of a nephrologist and haematologist, Fahimeh started chemotherapy in
September 2012 with a course of cyclophosphamide and dexamethasone. Next, she was treated with melphalan.
Then Fahimeh had injections to stimulate her bone marrow to produce stem cells which were then harvested, and in November she had an autologous stem cell transplant.
She went home to recover but a week after the transplant Fahimeh developed a temperature and was admitted to hospital. For the next 10 days she was confined to an isolation room and treated with blood transfusions and antibiotics.
“I was very, very sick. My platelets and haemoglobin were very low. I couldn’t even walk,” said Fahimeh.
She returned home “to a very clean and disinfected area of the house”.
“We didn’t let anybody come to our house,” said Fahimeh.
Three months later when she went to see her haematologist with her husband, Mohammad and daughter, Hoda who is a GP, Fahimeh received the shocking news. The transplant hadn’t worked.
“I burst into tears and I told my daughter, ‘the world is finished for me, that’s it’.
“But the doctor was very optimistic. There were different treatments to try that people were responding well to.”
A new treatment and remission
Fahimeh started the new treatment on Christmas Eve – bortezomib (Velcade®) combined with cyclophosphamide and dexamethasone.
“My results showed that I had AL amyloidosis plus smouldering myeloma, so my haematologist was able to access bortezomib. At that time, it was only available for people with myeloma.”
Fahimeh was on this treatment regimen for six months, until mid-2013. During this time, she halved her work schedule to two days a week as she was exhausted and didn’t feel very well for two or three days after each treatment.
“My body responded perfectly,” said Fahimeh.
Within a year her kidney function had returned to normal, with no presence of protein in her urine, and she is thankful not to be affected by peripheral neuropathy as a side-effect, but when her hair grew back, it was extremely curly!
Fahimeh hasn’t had any further treatment for amyloidosis since but she continues to have three-monthly blood tests, at her request “because I want to make sure everything is okay”, and six-monthly appointments with her haematologist along with a urine test.
Thankful to be in remission
She shows no evidence of either amyloidosis or smouldering myeloma being active.
“At the moment I don’t have anything,” said Fahimeh.
“I don’t know if it will come back. I try not to think about it.
“I don’t know what is going to be in the future, but every day is a bonus for me. Every day I thank god for being healed and in remission for seven years.”
There has been one not-so-small hiccup over the years – heart surgery.
In 2018, Fahimeh noticed she was short of breath when walking, which she put down to having asthma and not using her inhaler every day. Her GP referred her to a cardiologist, and she had a series of tests.
“Then the sad thing – I had to have triple bypass surgery,” said Fahimeh.
“Three months after, I went back to work and back to normal life!”
“They are such a great support. I really appreciate their help, their support and everything,” she said.
“They were so nice to us. When I started treatment and twice when I was in hospital, they gave us a card, so my husband didn’t have to pay for parking. It was great he could stay with me all day. They helped with petrol vouchers too.”
The Leukaemia Foundation also connected Fahimeh with a fellow amyloidosis patient, long-term survivor and retired researcher, Carole Bartlett, who lives in Western Australia.
“She was diagnosed a year before me and is still in remission.
“Carole was a great help to me, to understand I am not alone, there are other people with AL amyloidosis.
“She was so positive. We are still in contact and when she came to Hobart, she came to our place for dinner.”
Fahimeh has travelled to Melbourne many times to attend the Leukaemia Foundation’s annual patient conference.
“I went with my daughter, to gather information, to find out about the new treatments. It brought me hope and happiness feeling you’re not alone.”
Life looks different to Fahimeh now
“My life has changed. Every single day, I thank god I am still alive and it’s such a beautiful day’.
“Every morning when I get up, I go outside. I appreciate that the weather is sunny and I appreciate when it is raining.
“Life is completely different to my eyes than before. Spring is different, summer is different. It looks like I am born again.”
Helping the dialysis patients at work
Fahimeh loves her job and has no plans to retire.
“I am 62 but I feel I’m 42. I don’t think about my age. I think age is just a number,” she said.
Not only does she share her own experiences with a life-threatening disease, to help support and encourage the dialysis patients she sees every day at work, she even does a belly dance for them!
Sharing a joke or a story inevitably results in the sound of a patient’s laughter coming from any room Fahimeh is in.
“They see how positive I am, and they tell me this makes a difference and is life-changing for them.
Fahimeh’s advice to others with amyloidosis
Firstly, unless you are accessing a recommended, trusted website, Fahimeh says, “don’t look at the internet,” because a lot of the information there is old.
“Treatment changes every day and is getting better.
“And don’t think it [an amyloidosis diagnosis] is the end of your life. It’s not. There’s lots of good treatment.
“Being positive makes a big difference. Talk to yourself. Say, ‘I am a fighter’ and ‘this is not going to kill me’.
“Being negative and down, pulls your immune system down as well. A positive attitude builds up your immune system.”
Fahimeh also suggests having a hobby. She loves cooking and reading medical books and doing research.
“I remember, after chemotherapy, I couldn’t concentrate on reading. I’d read a page, then I had to go back and read it again. That was very frustrating.
“I tried getting up and doing a breathing exercise. After five minutes, I’d sit and read that page again. Don’t give up. It’s very important not to give up.
“Exercise is very important for everybody,” said Fahimeh who jumps on her treadmill for at least 30 minutes each day.
“And if you can’t do half an hour, break it up into 10 minutes three times a day.”
Finally, Fahimeh says living with a chronic disease or illness is a big challenge.
“It is normal to grieve and to be sad. Sometimes, I have to tell myself there are people worse than me.
“If you are positive, it brings happiness to your life.
“I try to have a very positive attitude and every day I think about the research to find better treatments for this disease and maybe one day they will find a cure.”
Generous support helped deliver a research breakthrough that could lead to the first drug approved for patients with the rare blood disease, AL amyloidosis.
Back in 2011, the Leukaemia Foundation invested in an international AL amyloidosis clinical trial, headed up in Australia by Associate Professor Peter Mollee.
The trial was run in Australia by the Australasian Leukaemia and Lymphoma Group (ALLG) and took place in seven hospitals around Australia and in 14 countries internationally.
“It enabled us to have enough money to bring the international trial to Australia,” said Assoc. Professor Mollee.
“It wouldn’t have happened without that vital support.
“This was a trial that investigated the effectiveness of a drug called bortezomib in people with AL amyloidosis.”
You may have heard of bortezomib because it’s highly effective at treating a related blood cancer called myeloma.
But AL amyloidosis is quite different to myeloma. The disease sees the build-up of amyloid proteins in tissue and organs of your body and can lead to fatal organ failure.
This year, the results of Assoc. Professor Mollee’s trial were released.
“You’re always looking for a good response from the organs, but also that you may prolong the patient’s life,” said Assoc. Professor Mollee.
“The trial demonstrated the significant benefit of bortezomib in improving response rates and overall survival.
“The 30% absolute improvement in survival is a staggering result almost never seen in blood cancers.”
The project team are now awaiting publication of their results and will then look to submit the new treatment protocol to the Therapeutic Goods Administration, the regulatory body for medicines in Australia.
Assoc. Professor Mollee is grateful to support like yours for ensuring people living with this rare disease have access to improved treatments.
“The Leukaemia Foundation has provided invaluable support since the beginning and none of this would have been possible without the care and dedication of the community – thank you.”
One week before his brother’s formal diagnosis with familial amyloidosis in 2014, Vince O’Donnell discovered he carried the genes that predisposed him to familial amyloidosis polyneuropathy (now known as hereditary amyloidosis polyneuropathy) with cardiomyopathy.
These conditions were listed in a report from a genetic company in the U.S. that Vince received after he and wife, Terri, sent saliva samples to find out about their health and heritage.
“I looked at my test results and thought, God knows what that is. I don’t think I’ve got that,” said Vince.
The following week, after a heart biopsy, his brother, Laurie*, found out he had hereditary amyloidosis polyneuropathy. For years, he had been going to doctors about his breathlessness, carpel tunnel, pain, and peripheral neuropathy.
“Looking back, hindsight tells us our dad and grandmother had the amyloidosis gene,” said Vince, 64, of Queensland.
His only symptoms were being a little breathless, which he had put down to his age, and carpal tunnel syndrome, which he didn’t know was one of the first signs of amyloidosis.
Vince went to see his brother’s heart specialist, had an ECG, ultrasound and heart biopsy, and within a few weeks Vince had a formal diagnosis with familial amyloidosis as well.
Compared to his brother, Vince’s diagnosis was early. To slow development of his disease, Vince started treatment on diflunisal, and he continues to take the anti-inflammatory tablet twice a day. And, with his doctor’s blessing, Vince also takes green tea extract.
Vince “had some harsh decisions to make” after his diagnosis at the age of 59, and given his prognosis of approximately seven years.
He and Terri, who also has some health issues, decided to retire. They sold their house in Brisbane, bought a caravan and hit the road.
Over the intervening years, they have been house-sitting, often small properties with animals, and have travelled extensively in Australia and overseas.
“I know it [amyloidosis] is affecting me but I know I have a fair way to go yet,” said Vince, who sees his amyloidosis haematologist twice a year and his heart specialist on an annual basis.
“I’m on this journey and it’s a slippery slope, but I’m not sliding out of control. I know I’ll hit the bottom one day, but I’m hanging on.
“A combination of things has helped me get to where I am now. Retirement is one. Not going to work every day means there’s less stress. Early medication is two, as well as good family support particularly from my partner of 42 years, and a good diet.”
Vince says he feels pretty good, both physically and emotionally, but he does need a lot of sleep – 10 hours at night, and an afternoon rest.
* Laurie O’Donnell died in November 2017, three years after his diagnosis. Vince’s other sibling, Steve, does not carry the genes for hereditary amyloidosis (County Donegal strain) and none of Vince’s three children do either.
The meeting, in Berlin (Germany) last September (2019), is held every two years by the Amyloidosis Alliance: The Voice of Patients, a global entity dedicated to improving the quality of care and experience of amyloidosis patients by exchanging experiences and constructive interactions at an international level.
Vince and his partner, Terri, link closely with the Australian Amyloidosis Network (AAN) and have been active in the Australian amyloidosis community since Vince was diagnosed with hereditary amyloidosis polyneuropathy with cardiomyopathy in 2014.
In his advocacy role, Vince said he represents Australian patients’ concerns and encourages the inclusion of the patient-perspective in improving diagnosis, treatment and care for all types of amyloidosis.
“The three days of the meeting were full of lectures, talks, networking and information sharing,” said Vince, 64, of Queensland.
The Alliance taskforce presented its findings from the 2018 initiatives, including the improvement of education, accessibility of medications and an upcoming trials report.
Vince said a pilot study presented at the meeting found most GPs didn’t give their patients a referral despite an alert showing the possibility of an amyloidosis diagnosis appearing on their computer screens.
“Ideally, every medical school across all primary healthcare should be educated going forward,” said Vince.
“The AAN does this in some capacity but patients need to be more involved and at the very least made aware this is happening.
“Advancements across the whole sector also need to be promoted to ensure the continued education of general practitioners, specialists, primary health carers and the wider community,” said Vince.
In 2019, new Alliance taskforces started working on Standards for Cure and Care, Research and Trials, Advocacy, and AL Amyloidosis.
“Of particular interest was the Nutritional Aspects report by Dr Anna Hüsing-Kabar (Münster),” said Vince.
“Terri and I have asked to join the Lifestyle taskforce should the initiative be voted in this year.”
At a dinner at the Bode Museum, Vince spoke with fellow members of The Asia-Pacific Regional Network; a subgroup under the Amyloidosis Alliance for patients from Australia, South Korea, Japan and New Zealand.
“We hope China, Thailand, Vietnam and India, along with other Asia Pacific countries will join our regional network,” said Vince.
“Terri and I will continue to advocate for Australia’s formal membership of the Amyloidosis Alliance as we are only classed as an Associated Patients Group.
“We will also continue to meet with our regional network and seek others who want to work with us flying the flag for all Australians living with amyloidosis and their families,” he said.
A new class of drug may soon be available to Australian patients with significant cardiac AL amyloidosis in a Phase III clinical trial, expected to open in mid-2020.
The monoclonal antibody, currently called CAEL101, was designed by the Columbia University Amyloidosis group in the U.S. to bind on to the amylogenic protein and help clear it from the body.
“It’s a different class of drug,” said Dr Hasib Sidiqi, a consultant haematologist at Fiona Stanley Hospital (Perth). Last October, he returned to Australia from a two-year scholarship at the Mayo Clinic (Rochester, U.S.) where his focus was myeloma, amyloidosis and bone marrow transplantation.
Speaking to Amyloidosis Newsabout treatment developments and clinical trials in the pipeline for AL amyloidosis, Dr Sidiqi said treatments generally targeted the plasma cells that produce the amyloidogenic protein. The aim being “to try to kill them off, so you’re shutting the factory of production”.
“CAEL101 targets the actual amyloidogenic protein, to try and help clear it from the body and hopefully even help clear it from the organs that are affected.”
Early Phase I/II studies of CAEL101 showed efficacy, particularly for patients with cardiac involvement, said Dr Sidiq.
Now CAEL101 it is being considered for a Phase III trial, where it would be used in combination with standard therapy – cyclophosphamide, bortezomib and dexamethasone (CyBorD); the regimen commonly used for newly diagnosed amyloidosis patients.
This trial is undergoing feasibility assessment at several centres in Australia, including the Fiona Stanley Hospital.
“If selected, we hope to open the trial later on this year,” said Dr Hasib Sidiqi.
The link between myeloma and amyloidosis treatment
Treatments used for AL amyloidosis tend to be borrowed from the treatments that work for myeloma.
“If we look at amyloidosis pathophysiologically*, abnormal plasma cells produce the amyloidogenic light chains that are then deposited in tissues and cause organ disfunction,” said Dr Sidiqi.
“So, the goal of treatment is to try and stop production of those light chains and we’ve realised that the same treatments that we’ve used for myeloma – a cancer of the plasma cells – work quite well in amyloidosis.
“Amyloidosis patients have unique challenges because organ involvement with cardiac and kidney dysfunction is more common than what we see in myeloma patients.
“The key treatments we have tried over the last 5-10 years have used bortezomib (Velcade®)-based treatment,” he said.
“It works very well for AL amyloidosis and the best data on that treatment comes from the UK National Amyloidosis Consortium.
“They recently published a trial of 900 patients treated with Velcade/bortezomib-based regimens up front for amyloidosis and they showed very promising results.
“Most people will respond to this therapy and those who achieve good responses can go on to have several years without the disease relapsing. That gives us further evidence that the treatment we’ve been using for several years now actually has very good outcomes.”
Dr Sidiqi said some of the other myeloma drugs that are available pose unique challenges in patients with AL amyloidosis and gave the example of carfilzomib.
“It can cause cardiovascular issues such as high blood pressure and, in some patients, heart failure although this is less common,” he said.
“But in our amyloidosis patients, who may already suffer from heart disfunction, carfilzomib is very poorly tolerated, so that is a drug we try and avoid.
“Likewise, other drugs like the immunomodulatory drugs – lenalidomide (Revlimid®) and pomalidomide (Pomalyst®) – tend not to be so well tolerated in the amyloidosis patients as the myeloma patients. Although they have been looked at in smaller studies, overall their use is limited in AL amyloidosis.”
Daratumumab and AL amyloidosis
What Dr Sidiqi said had emerged as a success story in the last 12-24 months was the use of daratumumab (Darzalex®), a monoclonal antibody to CD38, in patients with AL amyloidosis.
“We know daratumumab is a highly effective treatment in myeloma. It’s used in all stages of the disease, from upfront to relapsed settings,” said Dr Sidiqi.
“The first early trials of daratumumab used in AL amyloidosis were reported at the 2017 annual meeting of the American Society of Hematology. One trial from Boston (U.S.) and one from the French group, Intergroupe Francophone du Myélome (IFM), showed that patients with AL amyloidosis treated with daratumumab do exceptionally well.
“They respond, and they respond very quickly, with the majority of responses seen in the first cycle of therapy, and there have been some really amazing responses with people achieving a deep response even after one dose of the drug!
“Those early positive results then translated into an expansion of clinical trials,” said Dr Sidiqi.
One trial is looking at daratumumab in combination with bortezomib, cyclophosphamide and dexamethasone compared to bortezomib, cyclophosphamide and dexamethasone as upfront therapy.
“So, we’re looking at whether the addition of the daratumumab to the existing triplet of drugs that we were using for newly diagnosed patients would add any benefit. That trial opened in a few Australian centres but is now closed to recruitment.
“I think it’s going to show some promising results. We’re eagerly awaiting that because it could really help improve our options for treating AL amyloidosis.
“Daratumumab is a really exciting drug for AL amyloidosis,” said Dr Sidiqi.
“Currently our access to daratumumab in Australia is limited. Myeloma patients are able to access this through Janssen’s compassionate access program. I believe daratumumab is being resubmitted this year to the Pharmaceutical Benefits Advisory Committee for consideration.
“Unfortunately, as far as I am aware there aren’t any trials with daratumumab targeting the AL amyloidosis patient population that are currently open in Australia.”
AAN-initiated clinical trials
However, Dr Sidiqi said the Australian Amyloidosis Network (AAN) – a group of physicians from across the country with four amyloidosis centres – is considering two new Phase II trials for people with AL amyloidosis.
“One is to consider daratumumab in combination with a couple of medications that we sometimes use for AL amyloidosis – melphalan (Alkeran®) and dexamethasone – in patients who have relapsed disease,” he said.
“If they’ve already had CyBorD, that would be a very good trial to have open. It would give these patients access to what we know is a really effective drug for AL amyloidosis.”
Dr Sidiqi said plans are for this trial to be run in collaboration with the Australasian Leukaemia & Lymphoma Group and to recruit 40-60 Australian patients.
The second trial is for isatuximab, a monoclonal antibody to CD38 which has a slightly different structure to daratumumab but is in the same class. It already has been tested and found to be effective in treating myeloma.
“We are working in collaboration with the French group, IFM, to see if we can open a clinical trial using isatuximab in combination with pomalidomide and dexamethasone,” said Dr Sidiqi.
This trial also would be in the relapsed setting, “so if you’ve had treatment before and your disease has come back, that’s what we would be targeting”.
“We hope to open the isatuximab trial in Australia at two or three AAN centres. Again, that would allow us to access what we hope is going to be a very effective drug for AL amyloidosis.”
Both trials are in the negotiation and discussion phase with the industry sponsors that would support the clinical trials.
“You have to have very good organ function and you need to have a good performance status to be considered for that but that’s another option.”
Dr Sidiqi is a member of the AAN, which covers all the amyloidoses.
As good data is not available on the incidence sand prevalence of amyloidosis in Australia, Dr Sidiqi said the AAN also was looking at doing epidemiology studies to gather this information.
Members of the AAN catch up once a month by teleconference.
“It’s a good forum for us to discuss tricky patient cases and come up with a consensus on a treatment plan,” he said.
“While most people with amyloidosis are treated at one of the AAN’s four city centres – in Brisbane, Sydney, Melbourne and Perth – that doesn’t capture all of Australia.
“It’s likely that a lot of other patients are being treated elsewhere by our haematologist colleagues. We are very accessible for opinions as a group and are happy to discuss cases with anyone who wishes to,” said Dr Sidiqi.
* The study of structural and functional changes in tissue and organs that lead to disease.
Cath Armstrong felt “absolute relief” to be diagnosed with amyloidosis in February 2017 because it meant she finally knew what she was dealing with… and it wasn’t all in her head!
Looking back, she believes she’d had amyloidosis for the previous three years; it just hadn’t been diagnosed.
In 2014, she’d spent a week in a Brisbane hospital having tests to find the cause of a range of symptoms – pain up the side of her face, weight loss (12kg in a month) and problems with her digestive tract.
“They couldn’t find out what was wrong and gave me sedatives. I think they thought it was a nervous disorder,” said Cath, 63, who lives at Tamworth (NSW).
“That’s fairly common with amyloidosis if you read about it. People sometimes do one or two stints in a mental health unit before finding out it’s not in their head… there’s actually something physically wrong with them,” she said.
Cath was “out of action” for nearly four months when she couldn’t drive or work, and it took her a long time to recover – over 18 months. She was initially treated by a neurologist for a nerve condition called trigeminal neuralgia. She then saw a musculoskeletal therapist who was also a cranialsacral therapist.
“I had to be very careful what I ate and could only eat really small meals. I didn’t know why but thought I could be gluten intolerant,” said Cath.
A gastroenterologist who did an endoscopy saw evidence that she had stomach ulcers that were healing.
“They didn’t run the Congo red test on the biopsies that is required for a diagnosis of amyloidosis, so didn’t pick up that’s what I had,” said Cath.
Then, in late-2016, she got “really sick” again in the lead-up to Christmas. A bookkeeper, Cath was working as PA for a developer, “doing all the paperwork for 46 residential blocks”. It was challenging and she was under a lot of pressure.
“Normally I don’t have any trouble operating under pressure, but it was too much with my system being unwell,” said Cath.
“I knew there was something wrong, but I didn’t know what it was and because I couldn’t get any answers, I just tried to manage it myself.”
Cath had severe weight loss again, along with bleeding from the bowel and ongoing problems with her digestive tract.
Her GP recommended another endoscopy, but her earliest opportunity to have the procedure in Tamworth was a couple of months later, in February 2017.
She also had a colonoscopy and this time biopsies from both investigations revealed amyloidosis.
“The gastroenterologist did 34 biopsies and every single one was positive to amyloidosis,” said Cath.
“He didn’t know what he was looking for and when he saw me, he said ‘this is not what I was expecting to find’.
“He said, ‘do you know what myeloma is?’ and I said ‘yes’. My sister-in-law had it and had passed away 10 years previously. Then he said, ‘well, amyloidosis is similar’.”
Cath was referred to a haematologist in Tamworth who had a special interest in myeloma and amyloidosis.
“He did a bone marrow biopsy and aspiration and gave the definitive diagnosis of AL amyloidosis, and myeloma as well! Then he ran through the treatment options, saying ‘think about what you want to do’,” said Cath.
“I made the decision pretty quickly because I went away and did a heap of research.”
She started treatment on the CyBorD regimen – cyclophosphamide, bortezomib and dexamethasone, the initial goal being to lower her lambda and kappa light chain ratio readings as much as possible. At that stage they were so high and she wasn’t suitable for an autologous stem cell transplant (SCT) but later that year she was put forward as a candidate for a SCT.
“I wanted to have the transplant in Brisbane because all my family were up there,” said Cath who has three adult children and seven grandchildren.
“It’s really important to have a good network around you. All my kids had different roles in supporting me when I got my diagnosis.
“My eldest girl [Belinda] used to fly down to Tamworth and see me. My second daughter [Rebecca] took time off – 2½ months – when I had the transplant, and my son [Matthew] would come down to see me and filled in if my daughter couldn’t come to the hospital.
“I had somebody there just about every day.”
In November 2017, Cath went to Brisbane for lead-up tests prior to her stem cell harvest, but during the gastroscopy, she “aspirated on the table”, and her children were told she ‘probably wouldn’t make it’.
Cath pulled through and recovered in ICU. But plans for the transplant were delayed. First, she needed two heart stents, but because her lungs were “burnt” from the aspiration and she had a “terrible cough”, she had to wait for her lungs to recover.
In January 2018, Cath’s stem cells were harvested but they didn’t get enough stem cells, so she had a second harvest the following month, and the Leukaemia Foundation helped out with accommodation in Brisbane.
Her transplant was in March. She was hospitalised for seven weeks during and after the transplant and went home to Tamworth in May.
Cath described the transplant as “reasonably successful”.
“The light chain numbers went down to virtually normal. My lambda light chains, which had been really high (about 320 at diagnosis) came down to 20-something (after the transplant).
“One of the problems was my kidneys. They had a lot of trouble recovering after the transplant and even now my kidney function is compromised.
“For a short time after the transplant I didn’t have any chemo, but then the light chain numbers started going up again, so I went back on maintenance chemo – thalidomide and two other drugs.
“That bopped along okay,” said Cath, but the drugs affected her cognitively.
“You’re not as sharp as normal, so number crunching was at times quite challenging. I had the advantage of working from home. If I didn’t feel well, I could have a rest and work later into the evening.
“I never really stopped working,” said Cathy, but she didn’t work much for two months during the transplant.
Then, at the end of the 2019 financial year, she gave up bookwork for the time being when she got “a nasty dose of shingles”. The nerves in her bladder were affected and she had a suprapubic catheter for four months.
This coincided with starting a new drug, lenalidomide, her fifth variation in treatment since her diagnosis.
“It’s expensive because it’s not on the PBS – $6000 a month,” said Cath, who was “very fortunate” to access the drug on compassionate grounds because she had myeloma as well.
She was on lenalidomide until the end of November 2019 when her immune system “had a bit of a crash and burn”.
“My platelets got down to 30; the normal range is 150-400,” she said.
In January (2020), Cath went back on lenalidomide at a reduced dose – one tablet every three days – and when she spoke to Amyloidosis News, she had just found out her immune system was starting to recover.
“My platelets were up to 130 today,” she said.
In mid-2019, Cath decided it was “a bit confusing” to have two haematologists – one in Brisbane, with a team of six or seven specialists including a nephrologist and cardiologist, and one at Tamworth.
“Now I’m just running with the team in Brisbane, where they all work together, which certainly isn’t available in Tamworth,” said Cath, who flies to Brisbane for her four-weekly reviews.
“Usually for a couple of days, before getting the okay to go home. Sometimes I’ve had to stay for up to 2½ weeks to do more blood tests, while they try and figure out what they are going to do with me!
Cath’s approach to managing amyloidosis
“You’ve got to learn to not have too many expectations about anything, to go with the flow and remember that amyloidosis is a disease you’ve got to manage, like diabetes.
“It’s all relative. I read this case today about a guy in the States with exactly the same as me; AL amyloidosis and myeloma and he had a SCT. He was in his early-30s and a personal trainer. He ended up having a heart transplant because his amyloidosis was in the heart and it also went to the kidneys and he had a kidney transplant. Then the myeloma kicked in and his spine started to crumble, so he had two steel rods put in his back. So I think you’ve got to keep it all in perspective and say, ‘this story doesn’t sound too bad does it’?”
“I just deal with things as they arise. I take it as it comes,” said Cath who describes herself as “a bit of a problem solver”.
“If something doesn’t work, I go to plan B, and if that doesn’t work, I go to C, D and E. You’ve just got to have that sort of attitude, not to be negative, and to look for solutions all the time.”
Cath doesn’t have a bucket list.
“You realise after something like this that all of that is irrelevant. What’s most important is family. I network with my friends and have friends stay and I enjoy myself.
“A lot of people probably don’t realise it takes a lot of effort to cope with this illness. It’s ongoing management, and I still get tired,” said Cath.
Her days revolve around daily physio exercises, visiting a physio once a week, exercise classes, regularly seeing her local GP for “other bits of treatment’’, injections to keep her bones strong and post-transplant immunisations.
“My goals now are eliminating as much stress as possible, physically to keep building in strength, and catching up with family and friends,” she said.
Cath’s advice based on her experience
“My advice is to seek help and, if you possibly can, to be well supported by family, and keep them informed. Whoever your support network is, take them on the journey, don’t block them out. You’ve got to include them if you want them to help you. This is a terminal disease, so we have to deal with it together.
“When I was in hospital, and they didn’t think I was going to make it, one of the doctors said to me, ‘you know, not many people of your age (early-60s) come in with power of attorney done, so their kids can do things and make decisions’.
“I did my power of attorney in the nine months when I was being prepared for the SCT, and I’ve since done an Advanced Health Care Directive and made it very clear what my wishes are.
“Don’t to be afraid to ask your specialists questions, even the basic terminology in a blood test. Ask them to explain things to you so you feel you can make an informed decision and you’ve got a clear understanding of what’s happening to you.
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.
“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.
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.”
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.
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.”